矢部 一郎 (ヤベ イチロウ)
医学研究院 専門医学系部門 神経病態学分野 | 教授 |
産学・地域協働推進機構 | 教授 |
社会科学実験研究センター | 教授 |
脳科学研究教育センター | 教授 |
北海道大学病院 | 教授 |
■研究者基本情報
Researchmap個人ページ
ホームページURL
J-Global ID
■経歴
経歴
- 2024年04月 - 現在
北海道大学病院てんかんセンター, 部長 - 2023年10月 - 現在
北海道大学病院軽度認知障害センター, 部長 - 2020年12月 - 現在
北海道大学大学院医学研究院神経病態学分野神経内科学教室, 教授 - 2012年04月 - 2022年10月
北海道大学病院臨床遺伝子診療部, Hokkaido University Hospital, 部長 - 2011年07月 - 2020年11月
北海道大学病院神経内科, Hokkaido University Hospital, 診療教授 - 2008年04月 - 2020年11月
北海道大学大学院医学研究院神経病態学分野神経内科学教室, 准教授 - 2017年01月 - 2017年03月
Houston methodist, Movement Disorders Clinic - 2007年04月 - 2008年03月
北海道大学大学院医学研究科脳科学専攻神経病態学講座神経内科学分野, Graduate School of Medicine, Division of Neurological Science, 准教授 - 2006年11月 - 2007年03月
北海道大学大学院医学研究科脳科学専攻神経病態学講座神経内科学分野, Graduate School of Medicine, Division of Neurological Science, 助教授 - 2005年10月 - 2006年10月
北海道大学大学院医学研究科脳科学専攻神経病態学講座神経内科学分野, Graduate School of Medicine, Division of Neurological Science, 講師 - 2003年10月 - 2005年09月
北海道大学大学院医学研究科脳科学専攻神経病態学講座神経内科学分野, Graduate School of Medicine, Division of Neurological Science, 助手 - 2002年04月 - 2003年09月
北海道大学医学部附属病院神経内科, 医員
■研究活動情報
受賞
論文
- Pretreatment pathology study in anti-LGI1 encephalitis
Kazuki Yamada, Hiroaki Yaguchi, Kaede Ishikawa, Daiki Tanaka, Yuki Oshima, Keiichi Mizushima, Shintaro Fujii, Taichi Nomura, Akihiko Kudo, Hisashi Uwatoko, Shinichi Shirai, Ikuko Takahashi-Iwata, Masaaki Matsushima, Riku Miyaishi, Noriyuki Otsuka, Zen-Ichi Tanei, Shigeru Yamaguchi, Keiko Tanaka, Koji Taniguchi, Shinya Tanaka, Ichiro Yabe
Journal of the Neurological Sciences, 466, 123258, 123258, Elsevier BV, 2024年11月, [国際誌]
英語, 研究論文(学術雑誌) - The Movement Disorder Society Criteria: Its Clinical Usefulness in Multiple System Atrophy
Monami Tarisawa, Masaaki Matsushima, Akihiko Kudo, Ken Sakushima, Yasuhiro Kanatani, Naoki Nishimoto, Jun Sawada, Takeshi Matsuoka, Shin Hisahara, Haruo Uesugi, Naoya Minami, Kazuya Sako, Asako Takei, Akiko Tamakoshi, Norihiro Sato, Hidenao Sasaki, Ichiro Yabe
Internal Medicine, 63, 21, 2903, 2912, Japanese Society of Internal Medicine, 2024年11月01日, [国内誌]
英語, 研究論文(学術雑誌), Objective In 2022, Wenning et al. proposed the Movement Disorder Society Criteria (MDS Criteria) for the Diagnosis of Multiple System Atrophy (MSA). These criteria were expected to provide useful alternatives to the second consensus statement. We examined trends in these diagnostic criteria. Methods We used patient data registered with the Hokkaido Rare Disease Consortium for Multiple System Atrophy, which has been recruiting patients with MSA through medical facilities in Hokkaido since November 2014. Patients were evaluated according to the MDS criteria based on neurological examinations and imaging findings at three separate times: the first evaluation, the time of enrollment (diagnosis), and the most recent evaluation (final evaluation). Results The MDS criteria were examined in 68 of 244 patients enrolled between November 2014 and July 2022. At the initial evaluation, the classifications were as follows: clinically established (n=27; 39.7%); clinically probable (n=13; 19.1%); possible prodromal (n=12; 17.6%); and negative (did not meet criteria (n=16; 23.5%). At the time of diagnosis, the classifications were as follows: clinically established (n=45; 66.2%); clinically probable (n=12; 17.6%); possible prodromal (n=4; 5.9%); and negative (n=7; 10.3%). At the final evaluation, the classifications were as follows: clinically established (n=52; 76.5%); clinically probable (n=9; 13.2%); possible prodromal (n=2; 2.9%); and negative (n=5; 7.4%). Conclusions We were able to clarify the changes in the criteria values and transition of patients due to the clarification of imaging and supportive findings in the MDS criteria. - Pathological study of progressive supranuclear palsy the cases with mutations in
Bassoon
Masahiro Wakita, Hiroaki Yaguchi, Mika Otuski, Satoshi Tanikawa, Yasuo Miki, Ikuko Aiba, Mari Yoshida, Taichi Nomura, Hisashi Uwatoko, Yasunori Mito, Kazuyoshi Sinpo, Takeshi Ikeuchi, Shinya Tanaka, Koichi Wakabayashi, Ichiro Yabe
Neuropathology, Wiley, 2024年10月31日
英語, 研究論文(学術雑誌), Clinical diagnosis of progressive supranuclear palsy (PSP) is difficult due to various phenotypes. Neuropathologically, PSP is defined by neuronal loss in the basal ganglia and brainstem with widespread occurrence of neurofibrillary tangles (NFTs) and accumulation of phosphorylated tau protein in neurons and glial cells in the brain. We previously identified the point mutation p.Pro3866Ala in the Bassoon (BSN) gene in a Japanese family with PSP‐like syndrome. We newly detected BSN mutations in two autopsied PSP cases carrying p.Thr2542Met and p.Glu2759Gly, respectively. The case with p.Thr2542Met mutation showed neurological symptoms including behavioral abnormalities, cognitive dysfunction, and parkinsonism. Brain magnetic resonance imaging (MRI) showed atrophy of the midbrain tegmentum and hippocampus. Pathologically, moderate to severe loss of neurons with gliosis was also found in the substantia nigra, and there was an almost complete loss of neurons with gliosis in the transitional zone of the cornu ammonis (CA) 1 region to the subiculum. NFTs were observed in the globus pallidus, subthalamic nucleus, substantia nigra, and CA1. 4R tau‐dominant tauopathy was detected. The case with p.Glu2759Gly mutation showed neurological symptoms, including right‐dominant motor impairment, right limping gait, postural instability, and cognitive dysfunction. Brain MRI showed mild atrophy of the midbrain tegmentum and left‐dominant parietal lobe atrophy. Pathologically, NFTs were detected in the globus pallidus, subthalamic nucleus, substantia nigra, thalamus, putamen, and brainstem tegmentum. Most neurons were immunopositive for four‐repeat tau, whereas only a few of them harbored three‐repeat tau‐positive NFTs in the hippocampus. We showed the results of a pathological study of PSP cases with BSN mutations; these were two new cases. The clinical phenotypes were similar to the first case in the point of neurological symptoms. Accumulation of four‐repeat tau was dominant. Further autopsies of BSN mutation cases and further elucidation of the molecular biological mechanism are desirable. - A Retrospective Cohort Study of a Newly Proposed Criteria for Sporadic Creutzfeldt–Jakob Disease
Toshiaki Nonaka, Ryusuke Ae, Koki Kosami, Hiroya Tange, Miho Kaneko, Takehiro Nakagaki, Tsuyoshi Hamaguchi, Nobuo Sanjo, Yoshikazu Nakamura, Tetsuyuki Kitamoto, Yoshiyuki Kuroiwa, Kensaku Kasuga, Manabu Doyu, Fumiaki Tanaka, Koji Abe, Shigeo Murayama, Ichiro Yabe, Hideki Mochizuki, Takuya Matsushita, Hiroyuki Murai, Masashi Aoki, Koji Fujita, Masafumi Harada, Masaki Takao, Tadashi Tsukamoto, Yasushi Iwasaki, Masahito Yamada, Hidehiro Mizusawa, Katsuya Satoh, Noriyuki Nishida
Diagnostics, 14, 21, 2424, 2424, MDPI AG, 2024年10月30日
英語, 研究論文(学術雑誌), Background/Objectives: Sporadic Creutzfeldt–Jakob disease (sCJD) is a fatal neurodegenerative disorder traditionally diagnosed based on the World Health Organization (WHO) criteria in 1998. Recently, Hermann et al. proposed updated diagnostic criteria incorporating advanced biomarkers to enhance early detection of sCJD. This study aimed to evaluate the sensitivity and specificity of Hermann’s criteria compared with those of the WHO criteria in a large cohort of patients suspected of prion disease in Japan. Methods: In this retrospective cohort study, we examined the new criteria using data of 2004 patients with suspected prion disease registered with the Japanese Prion Disease Surveillance (JPDS) between January 2009 and May 2023. Patients with genetic or acquired prion diseases or incomplete data necessary for the diagnostic criteria were excluded, resulting in 786 eligible cases. The sensitivity and specificity of the WHO and Hermann’s criteria were calculated by comparing diagnoses with those made by the JPDS Committee. Results: Of the 786 included cases, Hermann’s criteria helped identify 572 probable cases compared with 448 by the WHO criteria. The sensitivity and specificity of the WHO criteria were 96.4% and 96.6%, respectively. Hermann’s criteria demonstrated a sensitivity of 99.3% and a specificity of 95.2%, indicating higher sensitivity but slightly lower specificity. Fifty-five cases were classified as “definite” by both criteria. Conclusions: The findings suggest that Hermann’s criteria could offer improved sensitivity for detecting sCJD, potentially reducing diagnostic oversight. However, caution is advised in clinical practice to avoid misdiagnosis, particularly in treatable neurological diseases, by ensuring thorough exclusion of other potential conditions. - 脳炎・肥厚性硬膜炎【WS】免疫沈降法とショットガンプロテオミクスによる自己抗体測定方法の開発
工藤 彰彦, 矢口 裕章, 渡部 昌, 藤井 信太朗, 野村 太一, 上床 恵, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 田中 惠子, 高橋 秀尚, 畠山 鎮次, 矢部 一郎
神経免疫学, 29, 1, 218, 218, (一社)日本神経免疫学会, 2024年10月
日本語 - Nonspecific inflammatory pseudotumor of the maxillary and temporal fossa: a study of seven cases
Wataru Kakuguchi, Yuichi Ashikaga, Yasuhito Moritani, Shintaro Nakano, Naohiro Ogawa, Rieko Yoshitatsu, Aya Yanagawa-Matsuda, Nako Maishi, Akihiko Kudo, Nanase Okazaki, Yuji Nakamaru, Ichiro Yabe, Yoshihiro Matsuno, Yoichi Ohiro
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 138, 4, 494, 501, Elsevier BV, 2024年10月
英語, 研究論文(学術雑誌) - Chronic lymphoproliferative disorder of natural killer cells-related neurolymphomatosis with severe autonomic dysfunction: a case report
Kazuki Yamada, Takashi Inoue, Shuntaro Nakamura, Kazuhiro Horiuchi, Yutaka Tsutsumi, Satoru Munakata, Satoru Yagi, Yuki Fukami, Masahisa Katsuno, Ichiro Yabe
BMC Neurology, 24, 1, Springer Science and Business Media LLC, 2024年09月28日
英語, 研究論文(学術雑誌) - Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy
Saki Shimada, Takahiro Yamada, Akari Minamoto, Manami Matsukawa, Ichiro Yabe, Hiroshi Tada, Katsutoshi Oda, Arisa Ueki, Satomi Higashigawa, Maki Morikawa, Yuki Sato, Akira Hirasawa, Masanobu Ogawa, Tomohiro Kondo, Masahiro Yoshioka, Masashi Kanai, Manabu Muto, Shinji Kosugi
Journal of Human Genetics, Springer Science and Business Media LLC, 2024年09月17日
英語, 研究論文(学術雑誌) CAG Repeat Expansion inTHAP11 Is Not Detected in a Cohort with Spinocerebellar Ataxia from Hokkaido, the Northernmost Island of Japan
Shinichi Shirai, Keiichi Mizushima, Yuka Shibata, Masaaki Matsushima, Ikuko Iwata, Hiroaki Yaguchi, Ichiro Yabe
Movement Disorders, 39, 9, 1657, 1658, Wiley, 2024年09月17日
英語, 研究論文(学術雑誌)- Feasibility of differentiating gait in Parkinson's disease and spinocerebellar degeneration using a pose estimation algorithm in two-dimensional video
Katsuki Eguchi, Hiroaki Yaguchi, Hisashi Uwatoko, Yuki Iida, Shinsuke Hamada, Sanae Honma, Asako Takei, Fumio Moriwaka, Ichiro Yabe
Journal of the Neurological Sciences, 464, 123158, 123158, Elsevier BV, 2024年09月, [国際誌]
英語, 研究論文(学術雑誌), BACKGROUND: Although pose estimation algorithms have been used to analyze videos of patients with Parkinson's disease (PD) to assess symptoms, their feasibility for differentiating PD from other neurological disorders that cause gait disturbances has not been evaluated yet. We aimed to determine whether it was possible to differentiate between PD and spinocerebellar degeneration (SCD) by analyzing video recordings of patient gait using a pose estimation algorithm. METHODS: We videotaped 82 patients with PD and 61 patients with SCD performing the timed up-and-go test. A pose estimation algorithm was used to extract the coordinates of 25 key points of the participants from these videos. A transformer-based deep neural network (DNN) model was trained to predict PD or SCD using the extracted coordinate data. We employed a leave-one-participant-out cross-validation method to evaluate the predictive performance of the trained model using accuracy, sensitivity, and specificity. As there were significant differences in age, weight, and body mass index between the PD and SCD groups, propensity score matching was used to perform the same experiment in a population that did not differ in these clinical characteristics. RESULTS: The accuracy, sensitivity, and specificity of the trained model were 0.86, 0.94, and 0.75 for all participants and 0.83, 0.88, and 0.78 for the participants extracted by propensity score matching. CONCLUSION: The differentiation of PD and SCD using key point coordinates extracted from gait videos and the DNN model was feasible and could be used as a collaborative tool in clinical practice and telemedicine. - Behavioral and histological analyses of the mouse Bassoon p.P3882A mutation corresponding to the human BSN p.P3866A mutation
Daiki Tanaka, Hiroaki Yaguchi, Kaichi Yoshizaki, Akihiko Kudo, Fumiaki Mori, Taichi Nomura, Jing Pan, Yasuo Miki, Hidehisa Takahashi, Taichi Hara, Koichi Wakabayashi, Ichiro Yabe
Frontiers in Neuroscience, 18, 1414145, 1414145, Frontiers Media SA, 2024年07月26日, [国際誌]
英語, 研究論文(学術雑誌), Tauopathy is known to be a major pathognomonic finding in important neurodegenerative diseases such as progressive supranuclear palsy (PSP) and corticobasal degeneration. However, the mechanism by which tauopathy is triggered remains to be elucidated. We previously identified the point mutation c.11596C > G, p.Pro3866Ala in the Bassoon gene (BSN) in a Japanese family with PSP-like syndrome. We showed that mutated BSN may have been involved in its own insolubilization and tau accumulation. Furthermore, BSN mutations have also been related to various neurological diseases. In order to further investigate the pathophysiology of BSN mutation in detail, it is essential to study it in mouse models. We generated a mouse model with the mouse Bassoon p.P3882A mutation, which corresponds to the human BSN p.P3866A mutation, knock-in (KI) and we performed systematic behavioral and histological analyses. Behavioral analyses revealed impaired working memory in a Y-maze test at 3 months of age and decreased locomotor activity in the home cage at 3 and 12 months of age in KI mice compared to those in wild-type mice. Although no obvious structural abnormalities were observed at 3 months of age, immunohistochemical studies showed elevation of Bsn immunoreactivity in the hippocampus and neuronal loss without tau accumulation in the substantia nigra at 12 months of age in KI mice. Although our mice model did not show progressive cognitive dysfunction and locomotor disorder like PSP-like syndrome, dopaminergic neuronal loss was observed in the substantia nigra in 12-month-old KI mice. It is possible that BSN mutation may result in dopaminergic neuronal loss without locomotor symptoms due to the early disease stage. Thus, further clinical course can induce cognitive dysfunction and locomotor symptoms. - Conventional magnetic resonance imaging key features for distinguishing pathologically confirmed corticobasal degeneration from its mimics: a retrospective analysis of the J-VAC study
Keita Sakurai, Aya M. Tokumaru, Mari Yoshida, Yuko Saito, Koichi Wakabayashi, Takashi Komori, Masato Hasegawa, Takeshi Ikeuchi, Yuichi Hayashi, Takayoshi Shimohata, Shigeo Murayama, Yasushi Iwasaki, Toshiki Uchihara, Motoko Sakai, Ichiro Yabe, Satoshi Tanikawa, Hiroshi Takigawa, Tadashi Adachi, Ritsuko Hanajima, Harutoshi Fujimura, Kentaro Hayashi, Keizo Sugaya, Kazuko Hasegawa, Terunori Sano, Masaki Takao, Osamu Yokota, Tomoko Miki, Michio Kobayashi, Nobutaka Arai, Takuya Ohkubo, Takanori Yokota, Keiko Mori, Masumi Ito, Chiho Ishida, Jiro Idezuka, Yasuko Toyoshima, Masato Kanazawa, Masashi Aoki, Takafumi Hasegawa, Hirohisa Watanabe, Atsushi Hashizume, Hisayoshi Niwa, Keizo Yasui, Keita Ito, Yukihiko Washimi, Akatsuki Kubota, Tatsushi Toda, Kenji Nakashima, Ikuko Aiba
Neuroradiology, Springer Science and Business Media LLC, 2024年07月22日
英語, 研究論文(学術雑誌), Abstract
Purpose
Due to the indistinguishable clinical features of corticobasal syndrome (CBS), the antemortem differentiation between corticobasal degeneration (CBD) and its mimics remains challenging. However, the utility of conventional magnetic resonance imaging (MRI) for the diagnosis of CBD has not been sufficiently evaluated. This study aimed to investigate the diagnostic performance of conventional MRI findings in differentiating pathologically confirmed CBD from its mimics.
Methods
Semiquantitative visual rating scales were employed to assess the degree and distribution of atrophy and asymmetry on conventional T1-weighted and T2-weighted images. Additionally, subcortical white matter hyperintensity (SWMH) on fluid-attenuated inversion recovery images were visually evaluated.
Results
In addition to 19 patients with CBD, 16 with CBD mimics (progressive supranuclear palsy (PSP): 9, Alzheimer’s disease (AD): 4, dementia with Lewy bodies (DLB): 1, frontotemporal lobar degeneration with TAR DNA-binding protein of 43 kDa(FTLD-TDP): 1, and globular glial tauopathy (GGT): 1) were investigated. Compared with the CBD group, the PSP-CBS subgroup showed severe midbrain atrophy without SWMH. The non-PSP-CBS subgroup, comprising patients with AD, DLB, FTLD-TDP, and GGT, showed severe temporal atrophy with widespread asymmetry, especially in the temporal lobes. In addition to over half of the patients with CBD, two with FTLD-TDP and GGT showed SWMH, respectively.
Conclusion
This study elucidates the distinct structural changes between the CBD and its mimics based on visual rating scales. The evaluation of atrophic distribution and SWMH may serve as imaging biomarkers of conventional MRI for detecting background pathologies. - Extended haplotype with rs41524547-G defines the ancestral origin of SCA10
Karen N McFarland, Anjana Tiwari, Vera Hashem, Linwei Zhang, Desmond Zeng, Justin Vincent, Maria J Arredondo, Kristy L Johnson, Shi Rui Gan, Ichiro Yabe, Laurits Skov, Astrid Rasmussen, Tetsuo Ashizawa
Human Molecular Genetics, 33, 18, 1567, 1574, Oxford University Press (OUP), 2024年06月04日
英語, 研究論文(学術雑誌), Abstract
Spinocerebellar ataxia type 10 (SCA10) is a rare autosomal dominant ataxia caused by a large expansion of the (ATTCT)n repeat in ATXN10. SCA10 was described in Native American and Asian individuals which prompted a search for an expanded haplotype to confirm a common ancestral origin for the expansion event. All patients with SCA10 expansions in our cohort share a single haplotype defined at the 5′-end by the minor allele of rs41524547, located ~35 kb upstream of the SCA10 expansion. Intriguingly, rs41524547 is located within the miRNA gene, MIR4762, within its DROSHA cleavage site and just outside the seed sequence for mir4792-5p. The world-wide frequency of rs41524547-G is less than 5% and found almost exclusively in the Americas and East Asia—a geographic distribution that mirrors reported SCA10 cases. We identified rs41524547-G(+) DNA from the 1000 Genomes/International Genome Sample Resource and our own general population samples and identified SCA10 repeat expansions in up to 25% of these samples. The reduced penetrance of these SCA10 expansions may be explained by a young (pre-onset) age at sample collection, a small repeat size, purity of repeat units, or the disruption of miR4762-5p function. We conclude that rs41524547-G is the most robust at-risk SNP allele for SCA10, is useful for screening of SCA10 expansions in population genetics studies and provides the most compelling evidence to date for a single, prehistoric origin of SCA10 expansions sometime prior to or during the migration of individuals across the Bering Land Bridge into the Americas. - 血清VEGF値の陽転化で診断に至ったPOEMS症候群の1例
野村 太一, 岩田 育子, 江口 克紀, 井上 貴司, 足澤 萌奈美, 藤井 信太朗, 田中 大貴, 上床 尚, 白井 慎一, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 64, 6, 430, 430, (一社)日本神経学会, 2024年06月
日本語 - 乾燥症状を伴わずに多彩な神経症状で発症したSjoegren症候群の1例
井上 貴司, 布村 菫, 足澤 萌奈美, 藤井 信太朗, 野村 太一, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 津坂 和文, 小池 春樹, 矢部 一郎
臨床神経学, 64, 6, 431, 431, (一社)日本神経学会, 2024年06月
日本語 - 筋力低下を伴わない高CKの血症を呈したカルパイノパチーの1例
藤井 信太朗, 野村 太一, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 斎藤 良彦, 西野 一三, 矢部 一郎
臨床神経学, 64, 6, 433, 433, (一社)日本神経学会, 2024年06月
日本語 - 北海道地区のプリオン病サーベイランスと非定型的gCJD
岩田 育子, 阿部 恵, 濱田 晋輔, 白井 慎一, 松島 理明, 矢口 裕章, 江口 克紀, 森若 文雄, 矢部 一郎
臨床神経学, 64, 6, 434, 434, (一社)日本神経学会, 2024年06月
日本語 - 今月の症例 腎移植30年後に発症した中枢神経原発移植後リンパ増殖性疾患の1例
石川 楓, 白井 慎一, 上床 尚, 岩田 育子, 松島 理明, 松川 敏大, 山口 秀, 矢口 裕章, 外丸 詩野, 矢部 一郎
日本内科学会雑誌, 113, 6, 980, 985, (一社)日本内科学会, 2024年06月
日本語 - Complete nanopore repeat sequencing of SCA27B (GAA-FGF14ataxia) in Japanese
Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu, Naoki Kihara, Tomoyasu Matsubara, Yasuko Mori, Kenjiro Kunieda, Yusaku Shimizu, Tomoko Toyota, Shinichi Shirai, Masaaki Matsushima, Masaki Okubo, Taishi Wada, Misako Kunii, Ken Johkura, Ryosuke Miyamoto, Yusuke Osaki, Takabumi Miyama, Mai Satoh, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Kazuharu Misawa, Kohei Hamanaka, Haruka Hamanoue, Takeshi Mizuguchi, Hiroyuki Morino, Yuishin Izumi, Takayoshi Shimohata, Kunihiro Yoshida, Hiroaki Adachi, Fumiaki Tanaka, Ichiro Yabe, Naomichi Matsumoto
Journal of Neurology, Neurosurgery & Psychiatry, jnnp, 2024, BMJ, 2024年05月30日, [国際誌]
英語, 研究論文(学術雑誌), Background
Although pure GAA expansion is considered pathogenic in SCA27B, non-GAA repeat motif is mostly mixed into longer repeat sequences. This study aimed to unravel the complete sequencing ofFGF14repeat expansion to elucidate its repeat motifs and pathogenicity.
Methods
We screenedFGF14repeat expansion in a Japanese cohort of 460 molecularly undiagnosed adult-onset cerebellar ataxia patients and 1022 controls, together with 92 non-Japanese controls, and performed nanopore sequencing ofFGF14repeat expansion.
Results
In the Japanese population, the GCA motif was predominantly observed as the non-GAA motif, whereas the GGA motif was frequently detected in non-Japanese controls. The 5′-common flanking variant was observed in all Japanese GAA repeat alleles within normal length, demonstrating its meiotic stability against repeat expansion. In both patients and controls, pure GAA repeat was up to 400 units in length, whereas non-pathogenic GAA-GCA repeat was larger, up to 900 units, but they evolved from different haplotypes, as rs534066520, located just upstream of the repeat sequence, completely discriminated them. Both (GAA)≥250and (GAA)≥200were enriched in patients, whereas (GAA-GCA)≥200was similarly observed in patients and controls, suggesting the pathogenic threshold of (GAA)≥200for cerebellar ataxia. We identified 14 patients with SCA27B (3.0%), but their single-nucleotide polymorphism genotype indicated different founder alleles between Japanese and Caucasians. The low prevalence of SCA27B in Japanese may be due to the lower allele frequency of (GAA)≥250in the Japanese population than in Caucasians (0.15% vs 0.32%–1.26%).
Conclusions
FGF14repeat expansion has unique features of pathogenicity and allelic origin, as revealed by a single ethnic study. - Clinical Characteristics of Patients with Cryptococcal Meningitis in Hokkaido: A Case Series
Monami Tarisawa, Takahiro Kano, Tomoki Ishimaru, Taichi Nomura, Keiichi Mizushima, Kazuhiro Horiuchi, Ikuko Iwata, Shigehisa Ura, Naoya Minami, Hideki Hozen, Ichiro Yabe
Internal Medicine, 63, 9, 1281, 1287, Japanese Society of Internal Medicine, 2024年05月01日
英語, 研究論文(学術雑誌) - Intracerebral transplantation of MRI-trackable autologous bone marrow stromal cells for patients with subacute ischemic stroke
Masahito Kawabori, Satoshi Kuroda, Hideo Shichinohe, Kaoru Kahata, Souichi Shiratori, Satoshi Ikeda, Taisuke Harada, Kenji Hirata, Khin Khin Tha, Masato Aragaki, Shunsuke Terasaka, Yoichi M. Ito, Naoki Nishimoto, Shunsuke Ohnishi, Ichiro Yabe, Kohsuke Kudo, Kiyohiro Houkin, Miki Fujimura
Med, 5, 5, 432, 444.e4, Elsevier BV, 2024年05月
研究論文(学術雑誌) - Lambert-Eaton Myasthenic Syndrome Complicated by Anti-GABA<sub>B</sub> Receptor Encephalitis
Kazuki Yamada, Hiroaki Yaguchi, Kaede Ishikawa, Daiki Tanaka, Yuki Oshima, Keiichi Mizushima, Hisashi Uwatoko, Shinichi Shirai, Ikuko Takahashi-Iwata, Masaaki Matsushima, Keiko Tanaka, Ichiro Yabe
Internal Medicine, 63, 9, 1295, 1300, Japanese Society of Internal Medicine, 2024年05月01日, [国内誌]
英語, 研究論文(学術雑誌), A 74-year-old man experienced diplopia, generalized muscle weakness, and acute respiratory failure. He was diagnosed with Lambert-Eaton myasthenic syndrome (LEMS) and treated with immunotherapy, but no improvement was observed, and additional symptoms, including central apnea and hallucinations, appeared. Subsequent serum and cerebrospinal fluid (CSF) analyses confirmed the presence of GABAB receptor antibodies, indicating the coexistence of autoimmune encephalitis. Although there were no findings of malignancy, it is highly likely that occult small-cell lung carcinoma was present. When atypical symptoms occur in patients with LEMS, it is important to consider the possibility of concomitant autoimmune encephalitis. - Spinocerebellar ataxia type 4 is not detected in a cohort from Hokkaido, the northernmost island of Japan
Shinichi Shirai, Keiichi Mizushima, Yuka Shibata, Masaaki Matsushima, Ikuko Iwata, Hiroaki Yaguchi, Ichiro Yabe
Journal of the Neurological Sciences, 460, 122974, 122974, Elsevier BV, 2024年05月, [国際誌]
英語, 研究論文(学術雑誌) - Significant improvement in paraneoplastic neurological syndromes without identifiable anti-neural antibodies in patients with breast cancer after breast surgery
Tomohiro Oshino, Karin Shikishima, Yumi Moriya, Kaede Ishikawa, Megumi Abe, Hiroaki Yaguchi, Mitsuchika Hosoda, Keiko Tanaka, Ichiro Yabe, Masato Takahashi
International Cancer Conference Journal, 13, 3, 275, 280, Springer Science and Business Media LLC, 2024年04月13日
研究論文(学術雑誌) - Expert teleconsultation involving patients and their primary neurologists for the management of multiple sclerosis in regions without specialists
Yusei Miyazaki, Shigehisa Ura, Kazuhiro Horiuchi, Takeshi Matsuoka, Hideki Houzen, Kazufumi Tsuzaka, Yuichi Makino, Manami Koshida, Genko Oyama, Chika Sato, Ryoji Naganuma, Itaru Amino, Sachiko Akimoto, Masaaki Niino, Naoya Minami, Eri Takahashi, Susumu Ota, Nobutaka Hattori, Ichiro Yabe, Seiji Kikuchi
Clinical and Experimental Neuroimmunology, 2024年04月10日, [査読有り]
英語, 研究論文(学術雑誌) - Dynamic molecular network analysis of iPSC-Purkinje cells differentiation delineates roles of ISG15 in SCA1 at the earliest stage
Hidenori Homma, Yuki Yoshioka, Kyota Fujita, Shinichi Shirai, Yuka Hama, Hajime Komano, Yuko Saito, Ichiro Yabe, Hideyuki Okano, Hidenao Sasaki, Hikari Tanaka, Hitoshi Okazawa
Communications Biology, 7, 1, 413, 413, Springer Science and Business Media LLC, 2024年04月09日, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), Abstract
Better understanding of the earliest molecular pathologies of all neurodegenerative diseases is expected to improve human therapeutics. We investigated the earliest molecular pathology of spinocerebellar ataxia type 1 (SCA1), a rare familial neurodegenerative disease that primarily induces death and dysfunction of cerebellum Purkinje cells. Extensive prior studies have identified involvement of transcription or RNA-splicing factors in the molecular pathology of SCA1. However, the regulatory network of SCA1 pathology, especially central regulators of the earliest developmental stages and inflammatory events, remains incompletely understood. Here, we elucidated the earliest developmental pathology of SCA1 using originally developed dynamic molecular network analyses of sequentially acquired RNA-seq data during differentiation of SCA1 patient-derived induced pluripotent stem cells (iPSCs) to Purkinje cells. Dynamic molecular network analysis implicated histone genes and cytokine-relevant immune response genes at the earliest stages of development, and revealed relevance of ISG15 to the following degradation and accumulation of mutant ataxin-1 in Purkinje cells of SCA1 model mice and human patients. - FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients
Masaaki Matsushima, Hiroaki Yaguchi, Eriko Koshimizu, Akihiko Kudo, Shinichi Shirai, Takeshi Matsuoka, Shigehisa Ura, Atsushi Kawashima, Toshiyuki Fukazawa, Satoko Miyatake, Naomichi Matsumoto, Ichiro Yabe
Journal of Neurology, 271, 6, 3643, 3647, Springer Science and Business Media LLC, 2024年03月12日, [国際誌]
英語, 研究論文(学術雑誌) - 非流暢/失文法型原発性進行性失語(naPPA)の臨床症候と画像所見
大槻 美佳, 中川 賀嗣, 緒方 昭彦, 田島 康敬, 濱田 晋輔, 浦 茂久, 金藤 公人, 保前 英希, 赤池 瞬, 岩田 育子, 松島 理明, 矢部 一郎
高次脳機能研究, 44, 1, 72, 73, (一社)日本高次脳機能学会, 2024年03月
日本語 - Roles of the cerebellum and basal ganglia in temporal integration: Insights from a synchronized tapping task.
Shin-Ichi Tokushige, Shunichi Matsuda, Masayoshi Tada, Ichiro Yabe, Atsushi Takeda, Hiroyasu Tanaka, Megumi Hatakenaka, Hiroyuki Enomoto, Shunsuke Kobayashi, Kazutaka Shimizu, Takahiro Shimizu, Naoki Kotsuki, Satomi Inomata-Terada, Toshiaki Furubayashi, Yaeko Ichikawa, Ritsuko Hanajima, Shoji Tsuji, Yoshikazu Ugawa, Yasuo Terao
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 158, 1, 15, 2024年02月, [国際誌]
英語, 研究論文(学術雑誌), OBJECTIVE: The aim of this study was to clarify the roles of the cerebellum and basal ganglia for temporal integration. METHODS: We studied 39 patients with spinocerebellar degeneration (SCD), comprising spinocerebellar atrophy 6 (SCA6), SCA31, Machado-Joseph disease (MJD, also called SCA3), and multiple system atrophy (MSA). Thirteen normal subjects participated as controls. Participants were instructed to tap on a button in synchrony with isochronous tones. We analyzed the inter-tap interval (ITI), synchronizing tapping error (STE), negative asynchrony, and proportion of delayed tapping as indicators of tapping performance. RESULTS: The ITI coefficient of variation was increased only in MSA patients. The standard variation of STE was larger in SCD patients than in normal subjects, especially for MSA. Negative asynchrony, which is a tendency to tap the button before the tones, was prominent in SCA6 and MSA patients, with possible basal ganglia involvement. SCA31 patients exhibited normal to supranormal performance in terms of the variability of STE, which was surprising. CONCLUSIONS: Cerebellar patients generally showed greater STE variability, except for SCA31. The pace of tapping was affected in patients with possible basal ganglia pathology. SIGNIFICANCE: Our results suggest that interaction between the cerebellum and the basal ganglia is essential for temporal processing. The cerebellum and basal ganglia and their interaction regulate synchronized tapping, resulting in distinct tapping pattern abnormalities among different SCD subtypes. - Reliability of the unified multiple system atrophy rating scale using the telephone
Masaaki Matsushima, Azusa Nagai, Rie Nomachi, Akihiko Kudo, Katsuki Eguchi, Masahiro Wakita, Shinichi Shirai, Ikuko Iwata, Kazuhiro Horiuchi, Takeshi Matsuoka, Shigehisa Ura, Hideki Houzen, Ichiro Yabe
Clinical Neurology and Neurosurgery, 2024年02月
研究論文(学術雑誌) - 【Best Articles of the Year】自己免疫性小脳失調症についての単一施設での20年間の後方視的検討-自己免疫性小脳失調症は全小脳性運動失調症の約5%を占め,鑑別すべき重要な疾患群である
工藤彰彦,矢口裕章,田中惠子,木村暁夫,矢部一郎
北海道医学雑誌, 99, 1, 9, 2024年
日本語 - 【令和5年度 北海道医学会市民公開シンポジウム報告】障がいと共に生きる-全ての人が生きやすい社会を目指して-
山田崇弘,松島理明,矢部一郎
北海道医学雑誌, 99, 1, 5, 2024年
日本語 - The importance of early immunotherapy in anti-GluK2 antibody-positive autoimmune cerebellar ataxia: A case report
Tateishi Y, Yaguchi H, Kudo A, Fujii S, Iwata I, Nomura T, Anada M, Iwami K, Yshino M, Tanaka D, Mizushima K, Uwatoko H, Shirai S, Matsushima M, Kimura A, Tanaka K, Yabe I
J Neurol Sci, 2024年
英語 - Case report Amyloid-beta pathology in a case with dementia with Lewy bodies with a rapidly progressive clinical course similar to Creutzfeldt−Jacob disease
Fujii S, Takahashi-Iwata I, Oshima Y, Horiuchi K, Shimoyama N, Tanei ZI, Satoh K, Kitamoto T, Tanaka S, Yabe I.
Neuropathology, 2024年
英語 - Anti-Tr/DNER antibody-associated paraneoplastic neurological syndrome presenting limbic encephalitis with anaplastic large cell lymphoma: A Case Report
Fujii S, Yaguchi H, Takahashi-Iwata I, Inoue T, Tarisawa M, Nomura T, Kudo A, Uwatoko H, Shirai S, Matsumoto M, Miyaishi R, Otsuka N, Tanaka K, Taniguchi K, Takahashi M, Tanaka S, Yabe I
Intern Med, 2024年
英語 - Pembrolizumab-induced immune-related bilateral vocal cord paralysis
Nomura T, Iwata I, Kimura S, Yabe I (corresponding author)
Intern Med, 2024年
英語 - Are There Shortages and Regional Disparities in Lecanemab Treatment Facilities? A Cross-Sectional Study
Ohashi K, Takahashi-Iwata I, Jieyu Z, Sakushima K, Yabe I, Ogasawara
Health Services Insights, 17, 1, 8, 2024年
英語 - A patient presenting downbeat positioning nystagmus with 19/11 CAG repeats in the CACNA1A gene: A case report
Abe M, Yaguchi H, Fujiwara K, Kudo A, Naganuma R, Uwatoko H, Shirai S, Iwata I, Matsushima M, Yabe I (corresponding):
Neurology Clin Neurosci, 2024年
英語 - The Japan MSA registry: A multicenter cohort study of multiple system atrophy
6. Chikada A, Orimo K, Mitsui J, Matsukawa T, Ishiura H, Toda T, Mizusawa H, Takahashi Y, Katsuno M, Hara K, Onodera O, Ishihara T, Tada M, Kuwabara S, Sugiyama A, Yamanaka Y, Takahashi R, Sawamoto N, Sakato Y, Ishimoto T, Hanajima R, Watanabe Y, Takigawa H, Adachi T, Abe K, Yamashita T, Takashima H, Higashi K, Kira J, Yabe I, Matsushima M, Ogata K, Ishikawa K, Nishida Y, Ishiguro T, Ozaki K, Nagata T, Tsuji S
Neurol Clin Neurosci, 1, 7, 2024年
英語 - 若手の発進 若手に知ってほしい定位・機能神経外科の魅力 痙縮治療の魅力
山崎 和義, 笹森 徹, 岩崎 素之, 白井 慎一, 松島 理明, 矢部 一郎, 藤村 幹
日本定位・機能神経外科学会プログラム・抄録集, 63回, 65, 65, (一社)日本定位・機能神経外科学会, 2024年01月
日本語 - 目で見てわかる遺伝病 神経内科編 遺伝性トランスサイレチン型アミロイドーシス
松島 理明, 矢部 一郎
遺伝子医学, 14, 1, 3, 4, (株)メディカルドゥ, 2024年01月
日本語, 遺伝性トランスサイレチン型(ATTRv)アミロイドーシスは,末梢神経や心臓,腎臓,眼,消化管など全身の諸臓器に異常アミロイドが沈着し障害をきたす疾患である。かつては不治の病の位置づけであったが,1990~2000年代には肝移植が行われ,最近はトランスサイレチン(TTR)四量体安定化剤や遺伝子サイレンシングの技術を用いた核酸医薬が登場し,治療可能な疾患になりつつある。(著者抄録) - Requirement of Repeated Serum VEGF Measurements in POEMS Syndrome
Taichi Nomura, Ikuko Iwata, Katsuki Eguchi, Shintaro Fujii, Takashi Inoue, Monami Tarisawa, Takashi Ishio, Yuichiro Toyama, Hisashi Uwatoko, Shinichi Shirai, Masaaki Matsushima, Hiroaki Yaguchi, Ichiro Yabe
Internal Medicine, Japanese Society of Internal Medicine, 2024年, [国内誌]
英語, 研究論文(学術雑誌), POEMS syndrome is often associated with a poor prognosis. Elevated serum vascular endothelial growth factor (sVEGF) is a useful diagnostic marker with high sensitivity and specificity. However, the relationship between sVEGF elevation and polyneuropathy in POEMS syndrome remains controversial. We herein report a case of polyneuropathy without sVEGF elevation at the first admission. However, at 21 months after the onset, the patient tested positive for sVEGF and was diagnosed with POEMS syndrome. Therefore, it is important to repeatedly measure sVEGF levels in patients with polyneuropathy with an atypical course when POEMS syndrome is suspected, even if the initial sVEGF level is normal. - A retrospective study of autoimmune cerebellar ataxia over a 20-year period in a single institution.
Akihiko Kudo, Hiroaki Yaguchi, Keiko Tanaka, Akio Kimura, Ichiro Yabe
Journal of neurology, 271, 1, 553, 563, 2024年01月, [国際誌]
英語, 研究論文(学術雑誌), BACKGROUND: It is important to differentiate autoimmune cerebellar ataxia (ACA) from neurodegenerative CA, but this is sometimes difficult. We performed a retrospective study in a single institution in Japan over a 20-year period to reveal the clinical features of ACA. METHODS: Patients with CA as the primary neurological symptom were enrolled from those admitted to the Department of Neurology, Hokkaido University Hospital between April 2002 and March 2022. ACA was diagnosed retrospectively according to the following criteria: (1) CA being the predominant symptom; (2) identification of cancer within 2 years of onset; (3) improvement in cerebellar symptoms following immunotherapy; and (4) ruling out alternative causes of CA. Patients fulfilling criteria (1), (2), and (4) were classified as paraneoplastic cerebellar degeneration (PCD), while those fulfilling (1), (3), and (4) were classified as non-PCD and enrolled as patients with ACA. Neurodegenerative diseases, e.g., multiple system atrophy (MSA), were confirmed retrospectively based on generally used diagnostic criteria and enrolled. Furthermore, the ACA diagnostic criteria proposed by Dalmau and Graus were applied retrospectively to the ACA patients to examine the validity of the diagnoses. RESULTS: Among the 243 patients with CA, 13 were enrolled as ACA; five were PCD and eight were non-PCD. Eight of these cases met the proposed diagnostic criteria by Dalmau and Graus. MSA was the most prevalent disease among CA patients, with 93 cases. The incidence of cerebellar atrophy was significantly lower in ACA (3/13) than in MSA (92/92). Cerebrospinal fluid (CSF) pleocytosis was significantly more frequent in ACA than in MSA (4/13 vs. 2/55, respectively). However, there was no significant difference in the presence of oligoclonal bands, increased protein in CSF, and laterality differences in ataxia. CONCLUSION: ACA was present in ~ 5% of Japanese CA patients. The absence of cerebellar atrophy, despite the presence of CA, strongly supports ACA over MSA. While CSF pleocytosis was observed more often in ACA, the positivity rate was only ~ 30%. Since ACA is treatable, further studies are needed to identify additional clinical features and accurate diagnostic biomarkers. - Differentiation of speech in Parkinson's disease and spinocerebellar degeneration using deep neural networks.
Katsuki Eguchi, Hiroaki Yaguchi, Ikue Kudo, Ibuki Kimura, Tomoko Nabekura, Ryuto Kumagai, Kenichi Fujita, Yuichi Nakashiro, Yuki Iida, Shinsuke Hamada, Sanae Honma, Asako Takei, Fumio Moriwaka, Ichiro Yabe
Journal of neurology, 2023年11月21日, [国際誌]
英語, 研究論文(学術雑誌), INTRODUCTION: Assessing dysarthria features in patients with neurodegenerative diseases helps diagnose underlying pathologies. Although deep neural network (DNN) techniques have been widely adopted in various audio processing tasks, few studies have tested whether DNNs can help differentiate neurodegenerative diseases using patients' speech data. This study evaluated whether a DNN model using a transformer architecture could differentiate patients with Parkinson's disease (PD) from patients with spinocerebellar degeneration (SCD) using speech data. METHODS: Speech data were obtained from 251 and 101 patients with PD and SCD, respectively, while they read a passage. We fine-tuned a pre-trained DNN model using log-mel spectrograms generated from speech data. The DNN model was trained to predict whether the input spectrogram was generated from patients with PD or SCD. We used fivefold cross-validation to evaluate the predictive performance using the area under the receiver operating characteristic curve (AUC) and accuracy, sensitivity, and specificity. RESULTS: Average ± standard deviation of the AUC, accuracy, sensitivity, and specificity of the trained model for the fivefold cross-validation were 0.93 ± 0.04, 0.87 ± 0.03, 0.83 ± 0.05, and 0.89 ± 0.05, respectively. CONCLUSION: The DNN model can differentiate speech data of patients with PD from that of patients with SCD with relatively high accuracy and AUC. The proposed method can be used as a non-invasive, easy-to-perform screening method to differentiate PD from SCD using patient speech and is expected to be applied to telemedicine. - Case series: Downbeat nystagmus in SCA27B.
Shinichi Shirai, Keiichi Mizushima, Keishi Fujiwara, Eriko Koshimizu, Masaaki Matsushima, Satoko Miyatake, Ikuko Iwata, Hiroaki Yaguchi, Naomichi Matsumoto, Ichiro Yabe
Journal of the neurological sciences, 454, 120849, 120849, 2023年11月15日, [国際誌]
英語, 研究論文(学術雑誌), BACKGROUND: Spinocerebellar ataxia (SCA) 27B, first reported in late 2022, is caused by the abnormal expansion of GAA repeats in the first intron of the FGF14 gene, which encodes the fibroblast growth factor 14. CASE PRESENTATION: We present two late-onset cases, each manifesting mild cerebellar ataxia accompanied by omnidirectional downbeat nystagmus, which was enhanced in a suspended head position. None of the patients exhibited impaired head impulse or caloric tests. Repeat-primed PCR and targeted long-read nanopore sequence analysis of the FGF14 GAA repeat site identified more than 250 repeats, leading to the diagnosis of SCA27B. DISCUSSION: Downbeat nystagmus is reported to be associated with disturbances in the suppression of the vestibulo-ocular reflex (VOR). Our patients with SCA27B demonstrated downbeat nystagmus, likely due to a disruption of the VOR at the level of the cerebellar cortex, a potentially characteristic clinical feature of SCA27B. We have included video footages of eye movements recorded using Frenzel goggles for these cases. CONCLUSIONS: Omnidirectional downbeat nystagmus may be a distinctive clinical feature of SCA27B. - 神経難病の発症前遺伝カウンセリングの在り方は変化しつつある
松島 理明, 柴田 有花, 山田 崇弘, 矢部 一郎
日本難病医療ネットワーク学会機関誌, 11, 1, 127, 127, 日本難病医療ネットワーク学会, 2023年11月
日本語 - 視神経乳頭炎で発症し,髄膜脳炎症状が軽微であった自己免疫性GFAPアストロサイトパチー(GFAP-A)の1例
藤井 信太朗, 井上 貴司, 足澤 萌奈美, 野村 太一, 田中 大貴, 水島 慶一, 工藤 彰彦, 阿部 恵, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 荻野 陽, 矢部 一郎
臨床神経学, 63, 11, 778, 778, (一社)日本神経学会, 2023年11月
日本語 - V180I変異とM232R変異の複合ヘテロ接合性変異を認めた遺伝性プリオン病の一例
井上 貴司, 阿部 恵, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 堀内 一宏, 矢部 一郎
臨床神経学, 63, 11, 780, 780, (一社)日本神経学会, 2023年11月
日本語 - 北海道における多系統萎縮症レジストリ研究 HoRC-MSA2014-2023
松島 理明, 足澤 萌奈美, 工藤 彰彦, 佐久嶋 研, 金谷 泰宏, 西本 尚樹, 澤田 潤, 松岡 健, 上杉 春雄, 南 尚哉, 佐光 一也, 武井 麻子, 久原 真, 玉腰 暁子, 佐藤 典宏, 佐々木 秀直, 矢部 一郎
臨床神経学, 63, 11, 780, 780, (一社)日本神経学会, 2023年11月
日本語 - 活動性が高く,妊娠出産に際して再発予防薬選択に苦慮した多発性硬化症の1例
野村 太一, 上床 尚, 山田 一貴, 井上 貴司, 足澤 萌奈美, 藤井 信太朗, 田中 大貴, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 63, 11, 782, 782, (一社)日本神経学会, 2023年11月
日本語 - Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan
Keiichi Mizushima, Yuka Shibata, Shinichi Shirai, Masaaki Matsushima, Satoko Miyatake, Ikuko Iwata, Hiroaki Yaguchi, Naomichi Matsumoto, Ichiro Yabe
Journal of Human Genetics, 2023年10月17日, [国際誌]
英語, 研究論文(学術雑誌), In Japan, approximately 30% of spinocerebellar degeneration (SCD) is hereditary, and more than 90% of hereditary SCD is autosomal dominant SCD (AD-SCD). We have previously reported the types of AD-SCD in Hokkaido, twice. In this study, we investigated the status of AD-SCD mainly due to repeat expansions, covering the period since the last report. We performed genetic analysis for 312 patients with a clinical diagnosis of SCD, except for multiple system atrophy at medical institutions in Hokkaido between January 2007 and December 2020. The median age at the time of analysis was 58 (1-86) years. Pathogenic variants causing AD-SCD due to repeat expansion were found in 61.5% (192 cases). Spinocerebellar ataxia (SCA) 6 was the most common type in 25.3% (79 cases), followed by Machado-Joseph disease (MJD)/SCA3 in 13.8% (43), SCA1 in 6.4% (20), SCA2 in 5.1% (16), SCA31 in 4.8% (15), dentatorubral-pallidoluysian atrophy in 4.8% (15), SCA7 in 0.6% (2), and SCA8 in 0.6% (2). SCA17, 27B, 36, and 37 were not found. Compared to previous reports, this study found a higher prevalence of SCA6 and a lower prevalence of MJD/SCA3. An increasing number of cases identified by genetic testing, including cases with no apparent family history, accurately revealed the distribution of disease types in Hokkaido. - Gait video-based prediction of unified Parkinson's disease rating scale score: a retrospective study.
Katsuki Eguchi, Ichigaku Takigawa, Shinichi Shirai, Ikuko Takahashi-Iwata, Masaaki Matsushima, Takahiro Kano, Hiroaki Yaguchi, Ichiro Yabe
BMC neurology, 23, 1, 358, 358, 2023年10月05日, [国際誌]
英語, 研究論文(学術雑誌), BACKGROUND: The diagnosis of Parkinson's disease (PD) and evaluation of its symptoms require in-person clinical examination. Remote evaluation of PD symptoms is desirable, especially during a pandemic such as the coronavirus disease 2019 pandemic. One potential method to remotely evaluate PD motor impairments is video-based analysis. In this study, we aimed to assess the feasibility of predicting the Unified Parkinson's Disease Rating Scale (UPDRS) score from gait videos using a convolutional neural network (CNN) model. METHODS: We retrospectively obtained 737 consecutive gait videos of 74 patients with PD and their corresponding neurologist-rated UPDRS scores. We utilized a CNN model for predicting the total UPDRS part III score and four subscores of axial symptoms (items 27, 28, 29, and 30), bradykinesia (items 23, 24, 25, 26, and 31), rigidity (item 22) and tremor (items 20 and 21). We trained the model on 80% of the gait videos and used 10% of the videos as a validation dataset. We evaluated the predictive performance of the trained model by comparing the model-predicted score with the neurologist-rated score for the remaining 10% of videos (test dataset). We calculated the coefficient of determination (R2) between those scores to evaluate the model's goodness of fit. RESULTS: In the test dataset, the R2 values between the model-predicted and neurologist-rated values for the total UPDRS part III score and subscores of axial symptoms, bradykinesia, rigidity, and tremor were 0.59, 0.77, 0.56, 0.46, and 0.0, respectively. The performance was relatively low for videos from patients with severe symptoms. CONCLUSIONS: Despite the low predictive performance of the model for the total UPDRS part III score, it demonstrated relatively high performance in predicting subscores of axial symptoms. The model approximately predicted the total UPDRS part III scores of patients with moderate symptoms, but the performance was low for patients with severe symptoms owing to limited data. A larger dataset is needed to improve the model's performance in clinical settings. - 【運動失調症の病態と治療】多系統萎縮症の運動失調
松島 理明, 矢部 一郎
脳神経内科, 99, 4, 468, 472, (有)科学評論社, 2023年10月
日本語 - 目で見てわかる遺伝病 神経内科編 ファブリー病
松島 理明, 白井 慎一, 矢部 一郎
遺伝子医学, 13, 4, 3, 4, (株)メディカルドゥ, 2023年10月
日本語 - 中枢神経感染症の診断と治療に対する髄液多項目核酸検査の効果
岩田 育子, 上床 尚, 白井 慎一, 松島 理明, 矢口 裕章, 石黒 信久, 豊嶋 崇徳, 矢部 一郎
NEUROINFECTION, 28, 2, 117, 117, 日本神経感染症学会, 2023年10月
日本語 - 目で見てわかる遺伝病 神経内科編 ファブリー病
松島 理明, 白井 慎一, 矢部 一郎
遺伝子医学, 13, 4, 3, 4, (株)メディカルドゥ, 2023年10月
日本語 - 【運動失調症の病態と治療】多系統萎縮症の運動失調
松島 理明, 矢部 一郎
脳神経内科, 99, 4, 468, 472, (有)科学評論社, 2023年10月
日本語 - 【診断の糸口はここにある 手がかりから紐解く臨床推論】(第10章)神経 [Case 2]手足のしびれ 手足のしびれがあって整形外科でも診てもらっていますが,よくなりません
松島 理明, 矢部 一郎
内科, 132, 3, 652, 655, (株)南江堂, 2023年09月
日本語 - 多系統萎縮症新診断基準の有用性の検討
市之川 萌奈美, 松島 理明, 工藤 彰彦, 佐久嶋 研, 西本 尚樹, 澤田 潤, 松岡 健, 南 尚哉, 佐光 一也, 武井 麻子, 久原 真, 佐藤 典宏, 佐々木 秀直, 矢部 一郎
臨床神経学, 63, Suppl., S249, S249, (一社)日本神経学会, 2023年09月
日本語 - フィンゴリモドの投与間隔と再発予防効果の検討
上床 尚, 佐藤 翔紀, 山田 萌美, 佐藤 和則, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 川島 淳, 深澤 俊行, 矢部 一郎
臨床神経学, 63, Suppl., S320, S320, (一社)日本神経学会, 2023年09月
日本語 - 自己免疫性小脳失調症に対する免疫沈降法と質量分析法を用いた網羅的自己抗体測定方法の開発
工藤 彰彦, 矢口 裕章, 渡部 昌, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 高橋 秀尚, 畠山 鎮次, 矢部 一郎
神経免疫学, 28, 1, 217, 217, (一社)日本神経免疫学会, 2023年09月
日本語 - 視神経脊髄炎関連疾患(NMOSD)に対するサトラリズマブの使用経験
上床 尚, 佐藤 翔紀, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
神経免疫学, 28, 1, 224, 224, (一社)日本神経免疫学会, 2023年09月
日本語 - 【脊髄小脳変性症・多系統萎縮症の最新情報】脊髄小脳変性症・多系統萎縮症 総論
松島 理明, 矢部 一郎
難病と在宅ケア, 29, 6, 6, 8, (株)日本プランニングセンター, 2023年09月
日本語 - 【診断の糸口はここにある 手がかりから紐解く臨床推論】(第10章)神経 [Case 2]手足のしびれ 手足のしびれがあって整形外科でも診てもらっていますが,よくなりません
松島 理明, 矢部 一郎
内科, 132, 3, 652, 655, (株)南江堂, 2023年09月
日本語 - 視神経脊髄炎関連疾患(NMOSD)に対するサトラリズマブの使用経験
上床 尚, 佐藤 翔紀, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
神経免疫学, 28, 1, 224, 224, (一社)日本神経免疫学会, 2023年09月
日本語 - 自己免疫性小脳失調症に対する免疫沈降法と質量分析法を用いた網羅的自己抗体測定方法の開発
工藤 彰彦, 矢口 裕章, 渡部 昌, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 高橋 秀尚, 畠山 鎮次, 矢部 一郎
神経免疫学, 28, 1, 217, 217, (一社)日本神経免疫学会, 2023年09月
日本語 - Prediction of amyloid positron emission tomography positivity using multiple regression analysis of quantitative susceptibility mapping.
Yohei Ikebe, Ryota Sato, Tomoki Amemiya, Niki Udo, Masaaki Matsushima, Ichiro Yabe, Akinori Yamaguchi, Makoto Sasaki, Masafumi Harada, Noriyuki Matsukawa, Yasuo Kawata, Yoshitaka Bito, Toru Shirai, Hisaaki Ochi, Kohsuke Kudo
Magnetic resonance imaging, 103, 192, 197, 2023年08月08日, [国際誌]
英語, 研究論文(学術雑誌), PURPOSE: To develop a method for predicting amyloid positron emission tomography (PET) positivity based on multiple regression analysis of quantitative susceptibility mapping (QSM). MATERIALS AND METHODS: This prospective study included 39 patients with suspected dementia from four centers. QSM images were obtained through a 3-T, three-dimensional radiofrequency-spoiled gradient-echo sequence with multiple echoes. The cortical standard uptake value ratio (SUVR) was obtained using amyloid PET with 18F-flutemetamol, and susceptibility in the brain regions was obtained using QSM. A multiple regression model to predict cortical SUVR was constructed based on susceptibilities in multiple brain regions, with the constraint that cortical SUVR and susceptibility were positively correlated. The discrimination performance of the Aβ-positive and Aβ-negative cohorts was evaluated based on the predicted SUVR using the area under the receiver operating characteristic curve (AUC) and Mann-Whitney U test. RESULTS: The correlation coefficients between true and predicted SUVR were increased by incorporating the constraint, and the AUC to discriminate between the Aβ-positive and Aβ-negative cohorts reached to 0.79 (p < 0.01). CONCLUSION: These preliminary results suggest that a QSM-based multiple regression model can predict amyloid PET positivity with fair accuracy. - 今月の症例 S状結腸にα-synuclein病理を確認した認知症を伴うパーキンソン病の1例
穴田 麻眞子, 工藤 彰彦, 阿部 恵, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 吉田 雅, 種井 善一, 矢部 一郎
日本内科学会雑誌, 112, 8, 1402, 1408, (一社)日本内科学会, 2023年08月
日本語, 74歳男。50歳頃に起立性低血圧や便秘などの自律神経症状が出現した。63歳時に静止的振戦と筋強剛が出現し、パーキンソン病と診断した。その後、認知機能障害と幻視が出現した。経過中にS状結腸捻転を繰り返し、今回、腹腔鏡下S状結腸切除術を施行され、切除標本の病理組織検査で神経叢にα-synucleinの沈着を認められた。本例の経験とこれまでの知見から、消化管神経叢におけるα-synucleinの沈着は、非運動症状を伴うパーキンソン病の進展と関連があることが示唆された。 - 今月の症例 S状結腸にα-synuclein病理を確認した認知症を伴うパーキンソン病の1例
穴田 麻眞子, 工藤 彰彦, 阿部 恵, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 吉田 雅, 種井 善一, 矢部 一郎
日本内科学会雑誌, 112, 8, 1402, 1408, (一社)日本内科学会, 2023年08月
日本語 - Assessment for the timing of comprehensive genomic profiling tests in patients with advanced solid cancers
Hagio K, Kikuchi J, Takada K, Tanabe H, Sugiyama M, Ohhara Y, Amano T, Yuki S, Komatsu Y, Osawa T, Hatanaka K, Hatanaka Y, Mitamura T, Yabe I, Matsuno Y, manabe A, Sakurai A, Ishiguro A, Takahashi M, Yokouchi H, Naruse H, Mizukami Y, Akita H, Kinoshita I
Cancer Sci, 114, 8, 3385, 3395, 2023年08月, [国際誌]
英語, 研究論文(学術雑誌), Comprehensive genomic profiling (CGP) tests have been covered by public insurance in Japan for patients with advanced solid tumors who have completed or are completing standard treatments or do not have them. Therefore, genotype-matched drug candidates are often unapproved or off-label, and improving clinical trial access is critical, involving the appropriate timing of CGP tests. To address this issue, we analyzed the previous treatment data for 441 patients from an observational study on CGP tests discussed by the expert panel at Hokkaido University Hospital between August 2019 and May 2021. The median number of previous treatment lines was two; three or more lines accounted for 49%. Information on genotype-matched therapies was provided to 277 (63%). Genotype-matched clinical trials were ineligible because of an excess number of previous treatment lines or use of specific agents were found in 66 (15%) patients, with the highest proportion in breast and prostate cancers. Many patients met the exclusion criteria of one to two or more treatment lines across cancer types. In addition, previous use of specific agents was a frequent exclusion criterion for breast, prostate, colorectal, and ovarian cancers. The patients with tumor types with a low median number (two or fewer) of previous treatment lines, including most rare cancers, primary unknown cancers, and pancreatic cancers, had significantly fewer ineligible clinical trials. The earlier timing of CGP tests may improve access to genotype-matched clinical trials, with their proportion varying by cancer type. Each relevant society needs to advocate the desirable timing of CGP testing nationwide. - Sez6l2 autoimmunity in a large cohort study
Abe M, Yaguchi H(coerresponding author), Kudo A, Nagai A, Shirai S, Takahashi-Iwata I, Matsushima M, Nakamura N, Isahaya K, Yamano Y, Ashida S, Kasai T, Tanaka K, Watabnabe M, Kondo R, Takahashi H, Hatakeyama S, Takekoshi A, Kimura A, Shiohata T, Yabe I (coerresponding author)
J Neurol Neurosurg Psychiatry, 94, 8, 667, 668, 2023年08月, [最終著者, 責任著者], [国際誌]
英語 - パーキンソン病脳深部刺激療法術後5年目における治療有効性の評価
白井 慎一, 江口 克紀, 山崎 和義, 松島 理明, 川堀 真人, 平田 健司, 藤村 幹, 矢部 一郎
パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 17回, 86, 86, Movement Disorder Society of Japan (MDSJ), 2023年07月
日本語 - 目で見てわかる遺伝病 神経内科編 ミトコンドリア病
松島 理明, 水島 慶一, 矢部 一郎
遺伝子医学, 13, 3, 3, 4, (株)メディカルドゥ, 2023年07月
日本語 - 難治性疾患(難病)を学ぶ 脊髄小脳失調症(SCA)
松島 理明, 矢部 一郎
遺伝子医学, 13, 3, 91, 96, (株)メディカルドゥ, 2023年07月
日本語, 脊髄小脳変性症は,小脳性運動失調を主症状とし,常染色体顕性遺伝(優性遺伝)である脊髄小脳失調症(SCA)が遺伝性の多くを占める。病型により症状は多彩であり,表現促進現象を呈するものもある。二次性運動失調症を除外し遺伝学的検査にて診断が確定する。SCAの治療は現時点では対症療法であるが,新規治療方法開発は進行中である。SCAの発症前診断の遺伝カウンセリングは現時点では慎重に検討する必要があるものの,疾患修飾療法が実用化すれば,その在り方も変わってくることが予想される。(著者抄録) - 肥厚性硬膜炎加療中に両下肢麻痺と進行性意識障害を呈した髄膜脳脊髄炎の1例
山田 一貴, 水島 慶一, 布村 菫, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
NEUROINFECTION, 28, 1, 35, 35, 日本神経感染症学会, 2023年07月
日本語 - 目で見てわかる遺伝病 神経内科編 ミトコンドリア病
松島 理明, 水島 慶一, 矢部 一郎
遺伝子医学, 13, 3, 3, 4, (株)メディカルドゥ, 2023年07月
日本語 - 難治性疾患(難病)を学ぶ 脊髄小脳失調症(SCA)
松島 理明, 矢部 一郎
遺伝子医学, 13, 3, 91, 96, (株)メディカルドゥ, 2023年07月
日本語, 脊髄小脳変性症は,小脳性運動失調を主症状とし,常染色体顕性遺伝(優性遺伝)である脊髄小脳失調症(SCA)が遺伝性の多くを占める。病型により症状は多彩であり,表現促進現象を呈するものもある。二次性運動失調症を除外し遺伝学的検査にて診断が確定する。SCAの治療は現時点では対症療法であるが,新規治療方法開発は進行中である。SCAの発症前診断の遺伝カウンセリングは現時点では慎重に検討する必要があるものの,疾患修飾療法が実用化すれば,その在り方も変わってくることが予想される。(著者抄録) - パーキンソン病脳深部刺激療法術後5年目における治療有効性の評価
白井 慎一, 江口 克紀, 山崎 和義, 松島 理明, 川堀 真人, 平田 健司, 藤村 幹, 矢部 一郎
パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 17回, 86, 86, Movement Disorder Society of Japan (MDSJ), 2023年07月
日本語 - 肥厚性硬膜炎加療中に両下肢麻痺と進行性意識障害を呈した髄膜脳脊髄炎の1例
山田 一貴, 水島 慶一, 布村 菫, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
NEUROINFECTION, 28, 1, 35, 35, 日本神経感染症学会, 2023年07月
日本語 - 当院におけるHBOC症例のフォローアップに関する調査
佐々木 佑菜, 三田村 卓, 松本 隆児, 桑谷 将城, 細田 充主, 安部 崇重, 柴田 有花, 松島 理明, 矢部 一郎, 山田 崇弘
日本遺伝カウンセリング学会誌, 44, 2, 137, 137, (一社)日本遺伝カウンセリング学会, 2023年06月
日本語 - Smoking and younger age at onset in anti-acetylcholine receptor antibody-positive myasthenia gravis
Miyazaki Y, Sakushima K, Niino M, Takahashi E, Oiwa K, Naganuma R, Amino I, Akimoto S, Minami N, Yabe I, Kikuchi S
Immunol Med, 46, 2, 77, 83, 2023年06月
英語 - Video-based detection of epileptic spasms in West syndrome using a deep neural network: A pilot case study
Eguchi K*, Yaguchi H*, Nakakubo S, Nakajima M, Yuki Uedab, Egawa K, Shiraishi H, Yabe I
J Neurol Sci, 449, 120671, 120671, 2023年06月, [最終著者], [国際誌]
英語 - 神経疾患との鑑別を要したEhlers-Danlos症候群の1例
田中 大貴, 上床 尚, 石川 楓, 山田 一貴, 大嶌 祐貴, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 63, 5, 324, 324, (一社)日本神経学会, 2023年05月
日本語 - 病初期より感覚神経障害を認めた球脊髄性筋萎縮症(SBMA)の1例
石川 楓, 山田 一貴, 大嶌 祐貴, 田中 大貴, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 63, 5, 324, 324, (一社)日本神経学会, 2023年05月
日本語 - 2022年における北海道地区のプリオン病サーベイランスについて
岩田 育子, 阿部 恵, 上床 尚, 白井 慎一, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 63, 5, 326, 326, (一社)日本神経学会, 2023年05月
日本語 - 常染色体優性遺伝性脊髄小脳変性症(AD-SCD)の疾患構成
柴田 有花, 松島 理明, 山田 崇弘, 矢部 一郎
臨床神経学, 63, 5, 326, 326, (一社)日本神経学会, 2023年05月
日本語 - 標準的自己免疫性小脳失調症診療の均てん化を目指す試み
矢口 裕章, 工藤 彰彦, 阿部 恵, 野村 太一, 江口 克紀, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎
臨床神経学, 63, 5, 327, 327, (一社)日本神経学会, 2023年05月
日本語 - 家族性筋萎縮性側索硬化症8の症例
新野 正明, 網野 格, 野村 太一, 長沼 亮滋, 宮崎 雄生, 秋本 幸子, 南 尚哉, 菊地 誠志, 岩田 育子, 宮武 聡子, 松本 直通, 矢部 一郎
臨床神経学, 63, 5, 324, 324, (一社)日本神経学会, 2023年05月
日本語 - 両側内包病変を呈したミトコンドリア病の1例
野村 太一, 大岩 慧, 長沼 亮滋, 網野 格, 宮崎 雄生, 秋本 幸子, 新野 正明, 南 尚哉, 菊地 誠志, 工藤 彰彦, 後藤 雄一, 西野 一三, 矢部 一郎
臨床神経学, 63, 5, 327, 327, (一社)日本神経学会, 2023年05月
日本語 - 抗GABAB受容体抗体陽性脳炎を合併したLambert-Eaton症候群(LEMS)の1例
山田 一貴, 松島 理明, 石川 楓, 大嶌 祐貴, 田中 大貴, 水島 慶一, 上床 尚, 白井 慎一, 岩田 育子, 矢口 裕章, 田中 惠子, 矢部 一郎
臨床神経学, 63, 5, 326, 326, (一社)日本神経学会, 2023年05月
日本語 - 【神経・精神領域の薬剤ハンドブック】脊髄小脳変性症治療薬
松島 理明, 矢部 一郎
BRAIN and NERVE: 神経研究の進歩, 75, 5, 0498, 0502, (株)医学書院, 2023年05月
日本語, <文献概要>脊髄小脳変性症や多系統萎縮症に対して,いまだに疾患修飾療法は確立しておらず,現在利用可能なものは対症療法のみである。小脳性運動失調症状に対する保険適用薬剤としては,タルチレリンとプロチレリンがあり,症状進行抑制効果が期待されている。脊髄小脳変性症に伴う痙縮には筋弛緩薬が使用され,多系統萎縮症の自律神経症状には昇圧薬や排尿障害治療薬などが用いられている。今後は新しい機序の治療薬の開発が望まれる。 - Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients
Nakamura R, Tohnai G, Nakatochi M, Atsuta N, Watanabe H, Ito D, Katsuno M, Hirakawa A, Izumi Y, Morita M, Hirayama T, Kano O, Kanai K, Hattori N, Taniguchi A, Suzuki N, Aoki M, Iwata I, Yabe I, et al
J Neurol Neurosurg Psychiatry, jnnp-2022-330851, 2023年05月 - B症状や末梢神経障害を契機に診断された,クリオグロブリン血症性血管炎の1例
足澤 萌奈美, 脇田 雅大, 上床 尚, 阿部 恵, 松島 理明, 矢部 一郎
臨床神経学, 63, 5, 291, 297, (一社)日本神経学会, 2023年05月
日本語 - 神経疾患との鑑別を要したEhlers-Danlos症候群の1例
田中 大貴, 上床 尚, 石川 楓, 山田 一貴, 大嶌 祐貴, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 63, 5, 324, 324, (一社)日本神経学会, 2023年05月
日本語 - 病初期より感覚神経障害を認めた球脊髄性筋萎縮症(SBMA)の1例
石川 楓, 山田 一貴, 大嶌 祐貴, 田中 大貴, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 63, 5, 324, 324, (一社)日本神経学会, 2023年05月
日本語 - 抗GABAB受容体抗体陽性脳炎を合併したLambert-Eaton症候群(LEMS)の1例
山田 一貴, 松島 理明, 石川 楓, 大嶌 祐貴, 田中 大貴, 水島 慶一, 上床 尚, 白井 慎一, 岩田 育子, 矢口 裕章, 田中 惠子, 矢部 一郎
臨床神経学, 63, 5, 326, 326, (一社)日本神経学会, 2023年05月
日本語 - 2022年における北海道地区のプリオン病サーベイランスについて
岩田 育子, 阿部 恵, 上床 尚, 白井 慎一, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 63, 5, 326, 326, (一社)日本神経学会, 2023年05月
日本語 - 常染色体優性遺伝性脊髄小脳変性症(AD-SCD)の疾患構成
柴田 有花, 松島 理明, 山田 崇弘, 矢部 一郎
臨床神経学, 63, 5, 326, 326, (一社)日本神経学会, 2023年05月
日本語 - 標準的自己免疫性小脳失調症診療の均てん化を目指す試み
矢口 裕章, 工藤 彰彦, 阿部 恵, 野村 太一, 江口 克紀, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎
臨床神経学, 63, 5, 327, 327, (一社)日本神経学会, 2023年05月
日本語 - 【神経・精神領域の薬剤ハンドブック】脊髄小脳変性症治療薬
松島 理明, 矢部 一郎
BRAIN and NERVE: 神経研究の進歩, 75, 5, 0498, 0502, (株)医学書院, 2023年05月
日本語, <文献概要>脊髄小脳変性症や多系統萎縮症に対して,いまだに疾患修飾療法は確立しておらず,現在利用可能なものは対症療法のみである。小脳性運動失調症状に対する保険適用薬剤としては,タルチレリンとプロチレリンがあり,症状進行抑制効果が期待されている。脊髄小脳変性症に伴う痙縮には筋弛緩薬が使用され,多系統萎縮症の自律神経症状には昇圧薬や排尿障害治療薬などが用いられている。今後は新しい機序の治療薬の開発が望まれる。 - High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial
Mitsui J, Matsukawa T, Uemura Y, Kawahara T, Chikada A, Porto KJL, Naruse H, Tanaka M, Ishiura H, Toda T, Kuzuyama H, Hirano M, Wada I, Ga T, Moritoyo T, Takahashi Y, Mizusawa H, Ishikawa K, Yokota T, Kuwabara S, Sawamoto N, Takahashi R, Abe K, Ishihara T, Onodera O, Matsuse D, Yamasaki R, Kira JI, Katsuno M, Hanajima R, Ogata K, Takashima H, Matsushima M, Yabe I, Sasaki H, Tsuji S
EClinicalMedicine, 59, 101920, 101920, 2023年04月, [国際誌]
英語, 研究論文(学術雑誌), BACKGROUND: Functionally impaired variants of COQ2, encoding an enzyme in biosynthesis of coenzyme Q10 (CoQ10), were found in familial multiple system atrophy (MSA) and V393A in COQ2 is associated with sporadic MSA. Furthermore, reduced levels of CoQ10 have been demonstrated in MSA patients. METHODS: This study was a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial. Patients with MSA were randomly assigned (1:1) to either ubiquinol (1500 mg/day) or placebo. The primary efficacy outcome was the change in the unified multiple system atrophy rating scale (UMSARS) part 2 at 48 weeks. Efficacy was assessed in all patients who completed at least one efficacy assessment (full analysis set). Safety analyses included patients who completed at least one dose of investigational drug. This trial is registered with UMIN-CTR (UMIN000031771), where the drug name of MSA-01 was used to designate ubiquinol. FINDINGS: Between June 26, 2018, and May 27, 2019, 139 patients were enrolled and randomly assigned to the ubiquinol group (n = 69) or the placebo group (n = 70). A total of 131 patients were included in the full analysis set (63 in the ubiquinol group; 68 in the placebo group). This study met the primary efficacy outcome (least square mean difference in UMSARS part 2 score (-1.7 [95% CI, -3.2 to -0.2]; P = 0.023)). The ubiquinol group also showed better secondary efficacy outcomes (Barthel index, Scale for the Assessment and Rating of Ataxia, and time required to walk 10 m). Rates of adverse events potentially related to the investigational drug were comparable between ubiquinol (n = 15 [23.8%]) and placebo (n = 21 [30.9%]). INTERPRETATION: High-dose ubiquinol was well-tolerated and led to a significantly smaller decline of UMSARS part 2 score compared with placebo. FUNDING: Japan Agency for Medical Research and Development. - Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia.
Hamada S, Takahasi-Iwata I, Satoh K, Kitamoto T, Mizusawa H, Moriwaka F, Yabe I
Human genome variation, 10, 1, 10, 10, 2023年03月29日, [最終著者], [国際誌]
英語, 研究論文(学術雑誌), The N-terminus of the PRNP gene normally contains a 5-octapeptide repeat (R1-R2-R2-R3-R4), and insertions at this locus can cause hereditary prion diseases. In the present study, we found a 5-octapeptide repeat insertion (5-OPRI) in a sibling case of frontotemporal dementia. Consistent with previous literature, 5-OPRI rarely met the diagnostic criteria for Creutzfeldt‒Jakob disease (CJD). We propose 5-OPRI as a suspected causative mutation for early-onset dementia, especially the frontotemporal type. - Novel Partial Deletions, Frameshift and Missense Mutations of CSF1R in Patents with CSF1R-Related Leukoencephalopathy.
24. Ishiguro T, Konno T, Hara N, Bin Z, Okada S, Shibata M, Saika R, Kitano T, Toko M, Nezu T, Hama Y, Kawazoe T, Iwata I, Yabe I, Sato K, Kurita T, Takeda H, toda S, Nishimiya J, Yoshimura T, Tokuda T, Nozaki H, Kasuga K, Miyashita A, Onodera O, Ikeuchi T
European journal of neurology, 2023年03月21日, [国際誌]
英語, 研究論文(学術雑誌), BACKGROUND: CSF1R-related leukoencephalopathy is an adult-onset leukoencephalopathy caused by mutations in CSF1R. The present study aimed to explore the broader genetic spectrum of CSF1R-related leukoencephalopathy in association with clinical and imaging features. METHODS: Mutational analysis of CSF1R was performed for 100 consecutive patients with adult-onset leukoencephalopathy. Sequence and copy number variation (CNV) analyses of CSF1R were performed. The genomic ranges of the deletions were determined by long-read sequencing. Ligand-dependent autophosphorylation of CSF1R was examined in cells expressing the CSF1R mutants identified in this study. RESULTS: We identified CSF1R mutations in 15 patients, accounting for 15% of the adult-onset leukoencephalopathy cases. Seven novel and five previously reported CSF1R mutations were identified. The novel mutations, including three missense and one in-frame 3-bp deletion, were located in the tyrosine kinase domain (TKD) of CSF1R. Functional assays revealed that none of the novel mutations in the TKD showed autophosphorylation of CSF1R. We identified two partial deletions of CSF1R that resulted in the lack of the C-terminal region, including the distal TKD, in two patients. Variable clinical features including cognitive impairment, psychiatric symptoms, and gait disturbance were observed. Various degrees of the white matter lesions and corpus callosum abnormalities on MRI and characteristic calcifications on CT were observed as imaging features. CONCLUSIONS: Our results highlighted the importance of examining the CNV of CSF1R even when Sanger or exome sequencing reveal no CSF1R mutations. Genetic examination of sequences and CNV analyses of CSF1R are recommended for an accurate diagnosis of CSF1R-related leukoencephalopathy. - Efficacy of Intravenous Immunoglobulins against Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids: A Case Report
Tsuchida T, Ura S, Yabe I
Case Reports in Neurology, 15, 1, 48, 53, S. Karger AG, 2023年03月15日, [最終著者]
研究論文(学術雑誌), Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disease of the central nervous system that predominantly affects the brainstem. Apart from corticosteroids, there are few reported treatment options for CLIPPERS, and there is no standard therapy. A 77-year-old man presented with diplopia that had persisted for 5 months. Dysarthria and numbness of the distal right upper extremity and right lips were also observed. Brain magnetic resonance imaging (MRI) revealed a hyperintense area around the brainstem. Symptoms were relieved immediately following intravenous methylprednisolone (IVMP) administration. However, after gradual tapering of oral prednisolone to 5 mg/day, the symptoms relapsed, and brain imaging revealed that the condition had worsened. Intravenous immunoglobulins (IVIg) were administered for recurrence, with no clinical improvement. After each IVMP treatment, the patient recovered promptly. Based on the patient’s symptoms and characteristic MRI findings, exclusion of other diseases, and the significant efficacy of corticosteroids, he was diagnosed with CLIPPERS. There was no recurrence at a maintenance prednisolone dose of 8 mg/day. IVIg had a poor effect on the acute phase of CLIPPERS symptoms. Compared with other immunosuppressants, IVIg is less effective in suppressing the relapse of CLIPPERS. - Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant.
Yamada K, Yaguchi H, Abe M, Ishikawa K, Tanaka D, Oshima Y, Kudo A, Uwatoko H, Shirai S, Matsushima M, Nishino I, Yabe I
Clinical neurology and neurosurgery, 228, 107670, 107670, 2023年03月13日, [最終著者], [国際誌]
英語 - 拡張型心筋症を発症したEmery-Dreifuss型筋ジストロフィーの一剖検例
佐々木 美羽, 種井 善一, 松島 理明, 石垣 隆弘, 桑原 健, 小田 義嵩, 谷川 聖, 津田 真寿美, 矢部 一郎, 田中 伸哉
日本病理学会会誌, 112, 1, 381, 381, (一社)日本病理学会, 2023年03月
日本語 - JCVとCMVの脳幹部重複感染症例におけるウイルスの局在解析
黒田 花音, 種井 善一, 岡崎 ななせ, 工藤 彰彦, 阿部 恵, 寺島 祐樹, 谷川 聖, 津田 真寿美, 矢部 一郎, 田中 伸哉
日本病理学会会誌, 112, 1, 375, 375, (一社)日本病理学会, 2023年03月
日本語 - Becker型筋ジストロフィーの兄弟剖検症例の病理組織学的検討
宮本 裕也, 種井 善一, 谷川 聖, 小田 義崇, 津田 真寿美, 加納 崇裕, 横田 卓, 矢部 一郎, 田中 伸哉
日本病理学会会誌, 112, 1, 378, 378, (一社)日本病理学会, 2023年03月
日本語 - 進行性非流暢性/失文法性失語例に対する構音面への治療的介入の試み 介入効果・維持効果・般化の検証
高倉 祐樹, 大槻 美佳, 芳野 正修, 脇田 雅大, 松島 理明, 廣谷 真, 矢部 一郎
高次脳機能研究, 43, 1, 42, 43, (一社)日本高次脳機能障害学会, 2023年03月
日本語 - 進行性非流暢性/失文法性失語例に対する構音面への治療的介入の試み 介入効果・維持効果・般化の検証
高倉 祐樹, 大槻 美佳, 芳野 正修, 脇田 雅大, 松島 理明, 廣谷 真, 矢部 一郎
高次脳機能研究, 43, 1, 42, 43, (一社)日本高次脳機能障害学会, 2023年03月
日本語 - 拡張型心筋症を発症したEmery-Dreifuss型筋ジストロフィーの一剖検例
佐々木 美羽, 種井 善一, 松島 理明, 石垣 隆弘, 桑原 健, 小田 義嵩, 谷川 聖, 津田 真寿美, 矢部 一郎, 田中 伸哉
日本病理学会会誌, 112, 1, 381, 381, (一社)日本病理学会, 2023年03月
日本語 - Skin biopsies for diagnosing neuronal intranuclear inclusion body disease: A retrospective study of 12 cases
Itamoto S, Yanagi T, Yabe I, Matsuno Y, Ujiie H
J Dermatol, 2023年02月 - Autoimmune Cerebellar Ataxia
Yaguchi H, Yabe I
Clinical Experimental Neuroimmunology, in pres, 2023年, [最終著者]
英語 - 脳脊髄病変を反復し髄液細胞の遺伝子解析によりBing-Neel症候群と診断した1例
大岩 慧,白井慎一,阿部 恵,大東寛幸,岩田育子,大塚拓也,矢部一郎
Brain and Nerve, 75, 1, 69, 75, 2023年, [最終著者]
日本語 - 特集 運動失調症をきたす神経疾患 遺伝性脊髄小脳変性症-概観
白井慎一,矢部一郎
脳神経内科, 98, 1, 13, 18, 2023年, [最終著者]
日本語 - New MDS criteriaの日常診療・臨床試験における使用方法
松島理明,矢部一郎
BRAIN and NERVE, 75, 2, 143, 147, 2023年, [最終著者], [国内誌]
日本語, 研究論文(学術雑誌), The newly revised diagnostic criteria for multiple system atrophy (MSA) have reduced the criteria for diagnosing orthostatic hypotension compared to the conventional diagnostic criteria, but require tests such as MRI and residual urine measurement. Under the new diagnostic criteria, cases that were previously classified as possible MSA with low diagnostic accuracy may become clinically established with higher diagnostic accuracy. However, examination of the cohort treated in our establishment showed that there were cases in which the diagnostic criteria could not be applied when the symptoms and test items necessary for diagnosis were not confirmed. In clinical trials, clinically established or clinically probable MSA are targeted for interventional studies, and possible prodromal MSA are considered to be more important for observational studies. In the future, it will be necessary to confirm the diagnostic accuracy pathologically, accumulate evidence from various clinical tests that are listed as supportive biomarkers, and to develop more useful diagnostic criteria. - Efficacy of Quantitative Susceptibility Mapping with Brain Surface Correction and Vein Removal for Detecting Increase Magnetic Susceptibility in Patients with Alzheimer's Disease.
Yamaguchi A, Kudo K, Sato R, Kawata Y, Udo N, Matsushima M, Yabe I, Sasaki M, Harada M, Matsukawa N, Shirai T, Ochi H, Bito Y
Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine, 22, 1, 87-94, 94, 2023年, [国内誌]
英語, 研究論文(学術雑誌), PURPOSE: Studies on quantitative susceptibility mapping (QSM) have reported an increase in magnetic susceptibilities in patients with Alzheimer's disease (AD). Despite the pathological importance of the brain surface areas, they are sometimes excluded in QSM analysis. This study aimed to reveal the efficacy of QSM analysis with brain surface correction (BSC) and/or vein removal (VR) procedures. METHODS: Thirty-seven AD patients and 37 age- and sex-matched, cognitively normal (CN) subjects were included. A 3D-gradient echo sequence at 3T MRI was used to obtain QSM. QSM images were created with regularization enabled sophisticated harmonic artifact reduction for phase data (RESHARP) and constrained RESHARP with BSC and/or VR. We conducted ROI analysis between AD patients and CN subjects who did or did not undergo BSC and/or VR using a t-test, to compare the susceptibility values after gray matter weighting. RESULTS: The susceptibility values in RESHARP without BSC were significantly larger in AD patients than in CN subjects in one region (precentral gyrus, 8.1 ± 2.9 vs. 6.5 ± 2.1 ppb) without VR and one region with VR (precentral gyrus, 7.5 ± 2.8 vs. 5.9 ± 2.0 ppb). Three regions in RESHARP with BSC had significantly larger susceptibilities without VR (precentral gyrus, 7.1 ± 2.0 vs. 5.9 ± 2.0 ppb; superior medial frontal gyrus, 5.7 ± 2.6 vs. 4.2 ± 3.1 ppb; putamen, 47,8 ± 16.5 vs. 40.0 ± 15.9 ppb). In contrast, six regions showed significantly larger susceptibilities with VR in AD patients than in CN subjects (precentral gyrus, 6.4 ± 1.9 vs. 4.9 ± 2.7 ppb; superior medial frontal gyrus, 5.3 ± 2.7 vs. 3.7 ± 3.3 ppb; orbitofrontal cortex, -2.1 ± 2.7 vs. -3.6 ± 3.2 ppb; parahippocampal gyrus, 0.1 ± 3.6 vs. -1.7 ± 3.7 ppb; putamen, 45.0 ± 14.9 vs. 37.6 ± 14.6 ppb; inferior temporal gyrus, -3.4 ± 1.5 vs. -4.4 ± 1.5 ppb). CONCLUSION: RESHARP with BSC and VR showed more regions of increased susceptibility in AD patients than in CN subjects. This study highlights the efficacy of this method in facilitating the diagnosis of AD. - 一過性の好酸球増多によりLoeffler心内膜炎を発症し多発脳梗塞に至った1例
石川 楓, 阿部 恵, 山田 一貴, 大嶌 祐貴, 田中 大貴, 水島 慶一, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 青柳 裕之, 矢部 一郎
臨床神経学, 62, 12, 974, 974, (一社)日本神経学会, 2022年12月
日本語 - MT-TN遺伝子にまれな点変異を認めたミトコンドリア病の1例
田中 大貴, 江口 克紀, 石川 楓, 山田 一貴, 大嶌 祐貴, 水島 慶一, 工藤 彰彦, 阿部 恵, 長井 梓, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 西野 一三, 後藤 雄一, 矢部 一郎
臨床神経学, 62, 12, 975, 975, (一社)日本神経学会, 2022年12月
日本語 - 免疫グロブリン静注療法により筋力改善を認めたSLONM-MGUSの1例
山田 一貴, 上床 尚, 江口 克紀, 石川 楓, 石丸 誠己, 大嶌 祐貴, 田中 大貴, 水島 慶一, 工藤 彰彦, 阿部 恵, 長井 梓, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 西野 一三, 矢部 一郎
臨床神経学, 62, 12, 976, 976, (一社)日本神経学会, 2022年12月
日本語 - 北海道における多系統萎縮症レジストリ研究 HoRC-MSA2014-2022
松島 理明, 足澤 萌奈美, 工藤 彰彦, 佐久嶋 研, 金谷 泰宏, 西本 尚樹, 澤田 潤, 松岡 健, 久原 真, 上杉 春雄, 南 尚哉, 佐光 一也, 武井 麻子, 玉腰 暁子, 佐藤 典宏, 佐々木 秀直, 矢部 一郎, 北海道保健福祉部健康安全局地域保健課感染症・特定疾患グループ
臨床神経学, 62, 12, 976, 976, (一社)日本神経学会, 2022年12月
日本語 - 長期経過を追った成人発症アレキサンダー病の1例
大嶌 祐貴, 岩田 育子, 佐藤 翔紀, 石川 楓, 山田 一貴, 田中 大貴, 上床 尚, 白井 慎一, 松島 理明, 原田 太以佑, 矢口 裕章, 矢部 一郎
臨床神経学, 62, 12, 977, 977, (一社)日本神経学会, 2022年12月
日本語 - 一過性の好酸球増多によりLoeffler心内膜炎を発症し多発脳梗塞に至った1例
石川 楓, 阿部 恵, 山田 一貴, 大嶌 祐貴, 田中 大貴, 水島 慶一, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 青柳 裕之, 矢部 一郎
臨床神経学, 62, 12, 974, 974, (一社)日本神経学会, 2022年12月
日本語 - MT-TN遺伝子にまれな点変異を認めたミトコンドリア病の1例
田中 大貴, 江口 克紀, 石川 楓, 山田 一貴, 大嶌 祐貴, 水島 慶一, 工藤 彰彦, 阿部 恵, 長井 梓, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 西野 一三, 後藤 雄一, 矢部 一郎
臨床神経学, 62, 12, 975, 975, (一社)日本神経学会, 2022年12月
日本語 - 免疫グロブリン静注療法により筋力改善を認めたSLONM-MGUSの1例
山田 一貴, 上床 尚, 江口 克紀, 石川 楓, 石丸 誠己, 大嶌 祐貴, 田中 大貴, 水島 慶一, 工藤 彰彦, 阿部 恵, 長井 梓, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 西野 一三, 矢部 一郎
臨床神経学, 62, 12, 976, 976, (一社)日本神経学会, 2022年12月
日本語 - 北海道における多系統萎縮症レジストリ研究 HoRC-MSA2014-2022
松島 理明, 足澤 萌奈美, 工藤 彰彦, 佐久嶋 研, 金谷 泰宏, 西本 尚樹, 澤田 潤, 松岡 健, 久原 真, 上杉 春雄, 南 尚哉, 佐光 一也, 武井 麻子, 玉腰 暁子, 佐藤 典宏, 佐々木 秀直, 矢部 一郎, 北海道保健福祉部健康安全局地域保健課感染症・特定疾患グループ
臨床神経学, 62, 12, 976, 976, (一社)日本神経学会, 2022年12月
日本語 - 長期経過を追った成人発症アレキサンダー病の1例
大嶌 祐貴, 岩田 育子, 佐藤 翔紀, 石川 楓, 山田 一貴, 田中 大貴, 上床 尚, 白井 慎一, 松島 理明, 原田 太以佑, 矢口 裕章, 矢部 一郎
臨床神経学, 62, 12, 977, 977, (一社)日本神経学会, 2022年12月
日本語 - [National survey of presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases-system development for after the establishment of therapies].
Yuka Shibata, Masaaki Matsushima, Momoko Kato, Hyangri Chang, Katsuya Nakamura, Katsutoshi Oda, Kunihiro Yoshida, Yoshiki Sekijima, Tatsushi Toda, Ichiro Yabe
Rinsho shinkeigaku = Clinical neurology, 62, 10, 773, 780, 2022年10月22日, [国内誌]
日本語, 研究論文(学術雑誌), As therapies for hereditary neuromuscular diseases are developed, the need for presymptomatic genetic testing and genetic counseling for early treatment is expected to increase. In Japan, there is no uniformly recommended protocol for presymptomatic genetic testing. In order to provide basic data for the establishment of a presymptomatic genetic testing system, we surveyed medical genetics departments in Japan about their current status (response rate: 67.4%). The questionnaire survey revealed that approximately 60% of facilities had established their own procedures for presymptomatic genetic testing, but the approaches used varied from facility to facility. The interview survey enabled us to identify the essential factors for the establishment of a presymptomatic genetic testing system for each case, each facility, and at the overall level. In the future, there is a need to develop a standardized protocol to help establish a presymptomatic genetic testing system. - 抗ミトコンドリアM2抗体陽性筋炎17例の臨床的特徴
長井 梓, 永井 利幸, 矢口 裕章, 藤井 信太朗, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 堀内 一宏, 浦 茂久, 安斉 俊久, 矢部 一郎
神経治療学, 39, 6, S263, S263, (一社)日本神経治療学会, 2022年10月
日本語 - 帯状疱疹性髄膜脳炎後に血管狭窄が出現し,ステロイド治療が有効であった1例
上床 尚, 大嶌 祐貴, 阿部 恵, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 浦 茂久, 矢部 一郎
NEUROINFECTION, 27, 2, 195, 195, 日本神経感染症学会, 2022年10月
日本語 - 自己免疫性自律神経節障害6症例の長期予後の検討
岩田 育子, 阿部 恵, 上床 尚, 白井 慎一, 松島 理明, 矢口 裕章, 廣谷 真, 中根 俊成, 矢部 一郎
日本自律神経学会総会プログラム・抄録集, 75回, 145, 145, 日本自律神経学会, 2022年10月
日本語 - 抗ミトコンドリアM2抗体陽性筋炎17例の臨床的特徴
長井 梓, 永井 利幸, 矢口 裕章, 藤井 信太朗, 上床 尚, 白井 慎一, 岩田 育子, 松島 理明, 堀内 一宏, 浦 茂久, 安斉 俊久, 矢部 一郎
神経治療学, 39, 6, S263, S263, (一社)日本神経治療学会, 2022年10月
日本語 - MOG抗体関連脳炎の臨床的特徴の検討
大嶌 祐貴, 山田 一貴, 白井 慎一, 岩田 育子, 金子 仁彦, 高橋 利幸, 田中 惠子, 藤原 一男, 浦 茂久, 矢部 一郎
神経治療学, 39, 6, S254, S254, (一社)日本神経治療学会, 2022年10月
日本語 - 脳深部刺激療法術後4年の経過に関する12例の検討
白井 慎一, 江口 克紀, 山崎 和義, 松島 理明, 加納 崇裕, 笹森 徹, 平田 健司, 大槻 美佳, 北川 まゆみ, 寳金 清博, 佐々木 秀直, 藤村 幹, 矢部 一郎
パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 16回, 80, 80, Movement Disorder Society of Japan (MDSJ), 2022年07月
日本語 - 胸腺腫摘除術後に発症した重症筋無力症の1例
石丸 誠己, 布村 菫, 穴田 麻眞子, 水島 慶一, 佐藤 翔紀, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 62, 7, 575, 575, (一社)日本神経学会, 2022年07月
日本語 - 異なる臨床像を呈する副腎白質ジストロフィー同胞例
柴田 有花, 松島 理明, 矢部 一郎
臨床神経学, 62, 7, 576, 576, (一社)日本神経学会, 2022年07月
日本語 - 北海道地区のプリオン病サーベイランスと否定例の解析
岩田 育子, 阿部 恵, 濱田 晋輔, 白井 慎一, 松島 理明, 矢口 裕章, 森若 文雄, 矢部 一郎
臨床神経学, 62, 7, 576, 576, (一社)日本神経学会, 2022年07月
日本語 - 発症前診断後の継続的支援により早期治療導入に至った遺伝性トランスサイレチン型アミロイドーシス
松島 理明, 柴田 有花, 白井 慎一, 岩田 育子, 矢口 裕章, 矢部 一郎
臨床神経学, 62, 7, 577, 577, (一社)日本神経学会, 2022年07月
日本語 - 神経サルコイドーシスに血管炎による頭蓋内内頸動脈狭窄を伴った1例
穴田 麻眞子, 岩田 育子, 瀬尾 祥, 石丸 誠己, 布村 菫, 水島 慶一, 工藤 彰彦, 佐藤 翔紀, 阿部 恵, 白井 慎一, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 62, 7, 577, 577, (一社)日本神経学会, 2022年07月
日本語 - 世界1例目のSez612抗体陽性小脳性運動失調症の臨床経過
阿部 恵, 矢口 裕章, 長井 梓, 工藤 彰彦, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎
臨床神経学, 62, 7, 577, 577, (一社)日本神経学会, 2022年07月
日本語 - 髄膜増強像を呈した自己免疫性GFAPアストロサイトパチー(GFAP-A)の1例
布村 菫, 水島 慶一, 佐藤 翔紀, 工藤 彰彦, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 62, 7, 578, 578, (一社)日本神経学会, 2022年07月
日本語 - 胸腺腫摘除術後に発症した重症筋無力症の1例
石丸 誠己, 布村 菫, 穴田 麻眞子, 水島 慶一, 佐藤 翔紀, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 62, 7, 575, 575, (一社)日本神経学会, 2022年07月
日本語 - 異なる臨床像を呈する副腎白質ジストロフィー同胞例
柴田 有花, 松島 理明, 矢部 一郎
臨床神経学, 62, 7, 576, 576, (一社)日本神経学会, 2022年07月
日本語 - 北海道地区のプリオン病サーベイランスと否定例の解析
岩田 育子, 阿部 恵, 濱田 晋輔, 白井 慎一, 松島 理明, 矢口 裕章, 森若 文雄, 矢部 一郎
臨床神経学, 62, 7, 576, 576, (一社)日本神経学会, 2022年07月
日本語 - 発症前診断後の継続的支援により早期治療導入に至った遺伝性トランスサイレチン型アミロイドーシス
松島 理明, 柴田 有花, 白井 慎一, 岩田 育子, 矢口 裕章, 矢部 一郎
臨床神経学, 62, 7, 577, 577, (一社)日本神経学会, 2022年07月
日本語 - 神経サルコイドーシスに血管炎による頭蓋内内頸動脈狭窄を伴った1例
穴田 麻眞子, 岩田 育子, 瀬尾 祥, 石丸 誠己, 布村 菫, 水島 慶一, 工藤 彰彦, 佐藤 翔紀, 阿部 恵, 白井 慎一, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 62, 7, 577, 577, (一社)日本神経学会, 2022年07月
日本語 - 世界1例目のSez612抗体陽性小脳性運動失調症の臨床経過
阿部 恵, 矢口 裕章, 長井 梓, 工藤 彰彦, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎
臨床神経学, 62, 7, 577, 577, (一社)日本神経学会, 2022年07月
日本語 - 髄膜増強像を呈した自己免疫性GFAPアストロサイトパチー(GFAP-A)の1例
布村 菫, 水島 慶一, 佐藤 翔紀, 工藤 彰彦, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 62, 7, 578, 578, (一社)日本神経学会, 2022年07月
日本語 - 脳深部刺激療法術後4年の経過に関する12例の検討
白井 慎一, 江口 克紀, 山崎 和義, 松島 理明, 加納 崇裕, 笹森 徹, 平田 健司, 大槻 美佳, 北川 まゆみ, 寳金 清博, 佐々木 秀直, 藤村 幹, 矢部 一郎
パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 16回, 80, 80, Movement Disorder Society of Japan (MDSJ), 2022年07月
日本語 - A diagnostic index based on quantitative susceptibility mapping and voxel-based morphometry may improve early diagnosis of Alzheimer's disease.
Sato R, Kudo K, Udo N, Matsushima M, Yabe I, Yamaguchi A, Tha KK, Sasaki M, Harada M, Matsukawa N, Amemiya T, Kawata Y, Bito Y, Ochi H, Shirai T
European radiology, 32, 7, 4479, 4488, 2022年07月, [国際誌]
英語, 研究論文(学術雑誌), OBJECTIVES: Voxel-based morphometry (VBM) is widely used to quantify the progression of Alzheimer's disease (AD), but improvement is still needed for accurate early diagnosis. We evaluated the feasibility of a novel diagnosis index for early diagnosis of AD based on quantitative susceptibility mapping (QSM) and VBM. METHODS: Thirty-seven patients with AD, 24 patients with mild cognitive impairment (MCI) due to AD, and 36 cognitively normal (NC) subjects from four centers were included. A hybrid sequence was performed by using 3-T MRI with a 3D multi-echo GRE sequence to obtain both a T1-weighted image for VBM and phase images for QSM. The index was calculated from specific voxels in QSM and VBM images by using a linear support vector machine. The method of voxel extraction was optimized to maximize diagnostic accuracy, and the optimized index was compared with the conventional VBM-based index using receiver operating characteristic analysis. RESULTS: The index was optimal when voxels were extracted as increased susceptibility (AD > NC) in the parietal lobe and decreased gray matter volume (AD < NC) in the limbic system. The optimized proposed index showed excellent performance for discrimination between AD and NC (AUC = 0.94, p = 1.1 × 10-10) and good performance for MCI and NC (AUC = 0.87, p = 1.8 × 10-6), but poor performance for AD and MCI (AUC = 0.68, p = 0.018). Compared with the conventional index, AUCs were improved for all cases, especially for MCI and NC (p < 0.05). CONCLUSIONS: In this preliminary study, the proposed index based on QSM and VBM improved the diagnostic performance between MCI and NC groups compared with the VBM-based index. KEY POINTS: • We developed a novel diagnostic index for Alzheimer's disease based on quantitative susceptibility mapping (QSM) and voxel-based morphometry (VBM). • QSM and VBM images can be acquired simultaneously in a single sequence with little increasing scan time. • In this preliminary study, the proposed diagnostic index improved the discriminative performance between mild cognitive impairment and normal control groups compared with the conventional VBM-based index. - 発語失行および劣位半球優位の脳萎縮と血流低下を認めた大脳皮質基底核変性症候群の1例
穴田 麻眞子, 石丸 誠己, 布村 菫, 水島 慶一, 工藤 彰彦, 佐藤 翔紀, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 白井 慎一, 松島 理明, 矢口 裕章, 矢部 一郎, 大槻 美佳
臨床神経学, 62, 4, 332, 332, (一社)日本神経学会, 2022年04月
日本語 - 北海道における多系統萎縮症レジストリ研究:HoRC-MSA2014-2021
松島 理明, 佐久嶋 研, 金谷 泰宏, 西本 尚樹, 澤田 潤, 松岡 健, 久原 真, 上杉 春雄, 南 尚哉, 佐光 一也, 武井 麻子, 玉腰 暁子, 佐藤 典宏, 佐々木 秀直, 矢部 一郎
臨床神経学, 62, 4, 333, 333, (一社)日本神経学会, 2022年04月
日本語 - Good症候群を背景に小脳及び脳幹に限局する病変を呈した進行性多巣性白質脳症((PML)の1例
布村 菫, 石丸 誠己, 穴田 麻眞子, 水島 慶一, 佐藤 翔紀, 工藤 彰彦, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 62, 4, 334, 334, (一社)日本神経学会, 2022年04月
日本語 - 非典型的な症状であるが、seronegative重症筋無力症(SNMG)と考えられた2例
石丸 誠己, 布村 菫, 穴田 麻眞子, 大岩 慧, 水島 慶一, 佐藤 翔紀, 工藤 彰彦, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 62, 4, 335, 335, (一社)日本神経学会, 2022年04月
日本語 - 発語失行および劣位半球優位の脳萎縮と血流低下を認めた大脳皮質基底核変性症候群の1例
穴田 麻眞子, 石丸 誠己, 布村 菫, 水島 慶一, 工藤 彰彦, 佐藤 翔紀, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 白井 慎一, 松島 理明, 矢口 裕章, 矢部 一郎, 大槻 美佳
臨床神経学, 62, 4, 332, 332, (一社)日本神経学会, 2022年04月
日本語 - 北海道における多系統萎縮症レジストリ研究:HoRC-MSA2014-2021
松島 理明, 佐久嶋 研, 金谷 泰宏, 西本 尚樹, 澤田 潤, 松岡 健, 久原 真, 上杉 春雄, 南 尚哉, 佐光 一也, 武井 麻子, 玉腰 暁子, 佐藤 典宏, 佐々木 秀直, 矢部 一郎
臨床神経学, 62, 4, 333, 333, (一社)日本神経学会, 2022年04月
日本語 - Good症候群を背景に小脳及び脳幹に限局する病変を呈した進行性多巣性白質脳症((PML)の1例
布村 菫, 石丸 誠己, 穴田 麻眞子, 水島 慶一, 佐藤 翔紀, 工藤 彰彦, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 62, 4, 334, 334, (一社)日本神経学会, 2022年04月
日本語 - 非典型的な症状であるが、seronegative重症筋無力症(SNMG)と考えられた2例
石丸 誠己, 布村 菫, 穴田 麻眞子, 大岩 慧, 水島 慶一, 佐藤 翔紀, 工藤 彰彦, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
臨床神経学, 62, 4, 335, 335, (一社)日本神経学会, 2022年04月
日本語 - Cat Scratch Disease-associated Encephalitis Followed by Parkinsonism: A Case Report.
Nakamura M, Ura S, Yabe I, Otsuki M, Soma H, Ogata A
Internal medicine (Tokyo, Japan), 61, 20, 3115, 3120, 2022年03月19日, [国内誌]
英語, 研究論文(学術雑誌), Cat scratch disease (CSD) is a zoonotic infection caused by Bartonella henselae typically resulting in self-limited regional lymphadenopathy. Encephalitis is a complication with a supposedly benign prognosis, but we encountered an exceptional case. A 19-year-old Japanese woman presented with status epilepticus. She was diagnosed with CSD-associated encephalitis based on her history of contact with a kitten and a high titre of serum IgG to B. henselae. Multimodal treatment ameliorated her encephalitis, but neurological sequelae including spastic paraparesis, persisted. After several months, she developed age-disproportionate parkinsonism inconsistent with a neurodegenerative disease. In conclusion, CSD-associated encephalitis can result in severe neurological sequelae and post-encephalitic parkinsonism. - SLEとGood症候群の治療経過中に脳幹障害を来たした一例
黒田 花音, 種井 善一, 岡崎 ななせ, 工藤 彰彦, 阿部 恵, 小田 義崇, 谷川 聖, 杉野 弘和, 矢部 一郎, 田中 伸哉
日本病理学会会誌, 111, 1, 356, 356, (一社)日本病理学会, 2022年03月
日本語 - SLEとGood症候群の治療経過中に脳幹障害を来たした一例
黒田 花音, 種井 善一, 岡崎 ななせ, 工藤 彰彦, 阿部 恵, 小田 義崇, 谷川 聖, 杉野 弘和, 矢部 一郎, 田中 伸哉
日本病理学会会誌, 111, 1, 356, 356, (一社)日本病理学会, 2022年03月
日本語 - Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments.
Takaki Taniguchi, Masahiro Ando, Yuji Okamoto, Akiko Yoshimura, Yujiro Higuchi, Akihiro Hashiguchi, Nozomu Matsuda, Mamoru Yamamoto, Eisuke Dohi, Makoto Takahashi, Masanao Yoshino, Taichi Nomura, Masaaki Matsushima, Ichiro Yabe, Yui Sanpei, Hiroyuki Ishiura, Jun Mitsui, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima
Journal of human genetics, 67, 6, 353, 362, 2022年01月14日, [国際誌]
英語, 研究論文(学術雑誌), BACKGROUND AND AIMS: Some hereditary transthyretin (ATTRv) amyloidosis patients are misdiagnosed as Charcot-Marie-Tooth disease (CMT) at onset. We assess the findings to identify ATTRv amyloidosis among patients with suspected CMT to screen transthyretin gene variants for treatments. METHODS: We assessed clinical, cerebrospinal fluid, and electrophysiological findings by comparing ATTRv amyloidosis patients with suspected CMT (n = 10) and CMT patients (n = 489). RESULTS: The median (interquartile range) age at onset of neurological symptoms was 69 (64.2-70) years in the ATTRv amyloidosis vs 12 (5-37.2) years in CMT group (Mann-Whitney U, p < 0.01). The proportion of patients with initial sensory symptoms was 70% in the ATTRv amyloidosis group vs 7.1% in CMT group (Fisher's exact, p < 0.01). The proportion of patients with histories of suspected chronic inflammatory demyelinating polyneuropathy (CIDP) were 50% in the ATTRv amyloidosis group vs 8.7% in CMT group (Fisher's exact, p < .01). Other measures and outcomes were not different between the two groups. Five of the six patients with ATTRv amyloidosis received treatment and survived. INTERPRETATION: For effective treatments, the transthyretin gene should be screened in patients with suspected CMT with old age at onset of neurological symptoms, initial sensory symptoms, and histories of suspected CIDP. - 《学会抄録》非集積地における遺伝性トランスサイレチン型アミロイドーシスの診療経験.
松島理明,足澤萌奈美,野村太一,大嶌祐貴,芳野正修,柴田有花,脇田雅大,上床 尚,白井慎一,岩田育子,矢口裕章,矢部一郎
末梢神経, 33, 2, 355, 2022, 日本末梢神経学会, 2022年, [最終著者]
日本語 - 【Best Article of the Year】不適切なメタ認知状態は,遺伝カウンセリング来談者の状態不安を増大させる
柴田有花,松島理明,竹内 恵,加藤ももこ,矢部一郎
北海道医学雑誌, 97, 2, 81, 2022年, [最終著者]
日本語 - 【Best Article of the Year】アーキタイプ様JCウイルスが検出された軽症自験例から考察される進行性多巣性白質脳症の病態機序
岩見昂亮,中道一生,松島理明,長井 梓,白井慎一,中久保 祥,岩田育子,山田雅文,矢部一郎
北海道医学雑誌, 97, 1, 11, 2022年, [最終著者]
日本語 - 小脳性運動失調症の最近の話題~免疫介在性小脳性運動失調症を中心に
矢口裕章,矢部一郎
神経治療学, 39, 3, 195, 199, 2022年, [最終著者]
日本語 - Anti-myelin oligodendrocyte glycoprotein antibody-associated encephalitis with cortical hyperintensity and pathologically confirmed extensive demyelination
Iwami K, Takahashi-Iwata I, Eguchi K, Nagai A, Shirai S, Matsushima M, Yaguchi H, Nakazato S, Tanikawa S, Tagawa Y, Shinmei Y, Takahashi T, Tanaka S, Yabe I( corresponding author
Neuroimmunology Reports, 2022年 - Rescue extracranial-intracranial bypass for ischemic stroke secondary to progressive human immunodeficiency virus-associated vasculopathy
Mizushima M, Sugiyama T, Eguchi K, Tarisawa M, Tokairin K, Ito M, Hashimoto D, Yabe I, Fujimoto M
JNLS-A, 2022年 - Autoimmune glial fibrillary acidic protein astrocytopathy presenting with area postrema syndrome-like symptoms without medulla oblongata lesions
Iwami K, Nomura T, Seo S, Nojima S, Tsuzaka K, Kimura A, Shimohata T, Yabe I
Neuroimmunomodulation, 29, 4, 433, 438, 2022年, [最終著者] - Cat Scratch Disease-associated Encephalitis Followed by Parkinsonism: A Case Report
Nakamura M, Ura S, Yabe I, Otsuki M, Soma H, Ogata A
Intern Med, 61, 20, 3115, 3120, 2022年 - Reversible centripetal cerebral vasculitis in pneumococcal meningitis
Nomura T, Ura S, Yaguchi H, Yabe I
Intern Med, 2022年 - Immune-medicated cerebellar ataxia with neurosarcoidosis
Mizushima K, Yaguchi H, Sato S, Yabe I
Intern Med, 2022年 - Randomized phase 2 study of perampanel for sporadic amyotrophic lateral sclerosis
Aizawa H, Kato H, Oba K, Kawahara T, Okubo Y, Saito T, Naito M, Urushitani M, Tamaoka A, Nakamagoe K, Ishii K, Kanda T, Katsuno M, Atsuta N, Maeda Y, Nagai M, Nishiyama K, Ishiura H, Toda T, Kawata A, Abe K, Yabe I, Takahashi-Iwata I, Sasaki H, Warita H, Aoki M, Sobue G, Mizusawa H, Matsuyama Y, Haga T, Kwak S
J Neurol, 269, 2, 885, 896, 2022年
研究論文(学術雑誌), Objective: To evaluate the efficacy and safety of perampanel in patients with sporadic amyotrophic lateral sclerosis (SALS). Methods: This randomized, double-blind, placebo-controlled, multicenter, phase 2 clinical study was conducted at 12 sites. Patients with probable or definite ALS as defined by revised El Escorial criteria were enrolled. Sixty-six patients were randomly assigned (1:1:1) to receive placebo, 4 mg perampanel, or 8 mg perampanel daily for 48 weeks. Adverse events (AEs) were recorded throughout the trial period. The primary efficacy outcome was the change in Amyotrophic Lateral Sclerosis Rating Scale-Revised (ALSFRS-R) score after 48 weeks of treatment. Results: One patient withdrew before starting the treatment. Of 65 patients included, 18 of 22 patients randomized to placebo (82%), 14 of 22 patients randomized to 4 mg perampanel (64%), and 7 of 21 patients randomized to 8 mg perampanel (33%) completed the trial. There was a significant difference in the change of ALSFRS-R scores [− 8.4 (95% CI − 13.9 to − 2.9); p = 0.015] between the placebo and the perampanel 8 mg group, primarily due to worsening of the bulbar subscore in the perampanel 8 mg group. Serious AEs were more frequent in the perampanel 8 mg group than in the placebo group (p = 0.0483). Conclusions: Perampanel was associated with a significant decline in ALSFRS-R score and was linked to worsening of the bulbar subscore in the 8 mg group. - Association of Smoking and Generalized Manifestations of Myasthenia Gravis
Miyazaki Y, Niino M, Sakushima K, Takahashi E, Naganuma R, Amino I, Akimoto S, Minami N, Yabe I, Kikuchi S
Intern Med, 61, 11, 1693, 1698, 2022年
英語 - Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments
Taniguchi T, Ando M, Okamoto Y, Yoshimura A, Higuchi Y, Hashiguchi A, Matsuda N, Yamamoto M, Dohi E, Takahashi M, Yoshino M, Nomura T, Matsushima M, Yabe I, Sanpei Y, Ishiura H, Mitsui J, Nakagawa M, Tsuji S, Takashima H
J Hum Genet, 67, 6, 353, 362, 2022年
英語 - A Diagnostic Index Based on Quantitative Susceptibility Mapping and Voxel-Based Morphometry May Improve Early Diagnosis of Alzheimer’s Disease
Sato R, Kudo K, Udo N, Matsushima M, Yabe I, Yamaguchi A, Tha KK, Sasaki M, Harada M, Matsukawa N, Amemiya T, Kawata Y, Bito Y, Ochi H, Shirai T
European Radiol, 32, 4479, 4488, 2022年 - Number of surgeries performed during the lifetime of patients with myelomeningocele
Nonaka M, Isozaki H, Komori Y, Kamei T, Takeda J, Nonaka Y, Yabe I, Zaitsu M, Nakashima K, Asai A
J Neurosurg Pediatr, 29, 479, 487, 2022年 - Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis
Tohnai G, Nakamura R, Atsuta N, Nakatochi M, Hayashi N, Ito D, Watanabe H, Watanabe H, Katsuno M, Izumi Y, Taniguchi A, Kanai K, Morita M, Kano O, Kuwabara S, Oda M, Abe K, Aoki M, Aiba I, Okamoto K, Mizoguchi K, Ishihara T, Kawata A, Yokota T, Hasegawa K, Nagano I, Yabe I, tanaka F, Kuru S, Hattori N, Nakashima K, Kaji R, Sobue G, Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS
Neurobiol Aging, 113, 131, 136, 2022年
英語, 研究論文(学術雑誌), DNAJC7 has recently been identified as an amyotrophic lateral sclerosis (ALS) gene via large-scale exome analysis, and its involvement in ALS is still unclear in various populations. This study aimed to determine the frequencies and characteristics of the DNAJC7 variants in a Japanese ALS cohort. A total of 807 unrelated Japanese patients with sporadic ALS were screened via exome analysis. In total, we detected six rare missense variants and one splice-site variant of the DNAJC7 gene, which are not reported in the Japanese public database. Furthermore, the missense variants are located around the TPR domain, which is important for the function of DNAJC7. The total frequency of the DNAJC7 variants in Japanese ALS patients was estimated at 0.87%. Collectively, these results suggest that variants of DNAJC7 are rare cause of Japanese patients with sporadic ALS. - Efficacy of Quantitative Susceptibility Mapping with Brain Surface Correction and Vein Removal for Detecting Increase Magnetic Susceptibility in Patients with Alzheimer's Disease
Yamaguchi A, Kudo K, Sato R, Kawata Y, Udo N, Matsushima M, Yabe I, Sasaki M, Harada M, Matsukawa N, Shirai T, Ochi H, Bito Y
Magn Reson Med Sci, 2022年 - Moyamoya disease associated with a deficiency of complement component 6
Kato M, Kudo Y, Hatase M, Tsuchida N, Sugiyama T, Fujimura M, Yabe I, Inoue N, Atsumi T
Journal of Stroke and Cerebrovascular Diseases, 31, 8, 106601, 106601, 2022年, [国際誌]
英語, 研究論文(学術雑誌), OBJECTIVES: Complement component 6 (C6) deficiency is a very rare genetic defect that leads to significantly diminished synthesis, secretion, or function of C6. In the current report, we demonstrate a previously undescribed, homozygous missense mutation in exon 17 of the C6 gene (c.2545A>G p.Arg849Gly) in a 35-year-old Japanese woman with moyamoya disease and extremely low levels of CH50 (<7.0 U/mL). MATERIALS AND METHODS: The complement gene analysis using hybridization capture-based next generation sequencing was performed. CH50 was determined in patient's plasma mixed with plasma from a healthy donor or purified human C6 protein. Western blot was performed on patient's plasma using polyclonal antibodies against C6, with healthy donor's plasma and purified human C6 protein as positive controls while C6-depleted human serum as a negative control. The carriage of ring finger protein 213 variant (c.14576G>A p.Arg4859Lys), a susceptibility gene for moyamoya disease, was examined by direct sequencing. RESULTS: CH50 mixing test clearly showed a deficiency pattern, being rescued by addition of only 1% healthy donor's plasma or 1 μg/mL purified human C6 protein (1/50-1/100 of physiological concentration). Western blot revealed the absence of C6 protein in the patient's plasma, confirming a quantitative deficiency of C6. The ring finger protein 213 variant was not detected. CONCLUSIONS: Our data implies that unrecognized complement deficiencies would be harbored in cerebrovascular diseases with unknown etiologies. - Current status and challenges of neurosurgical procedures for patients with myelomeningocele in real-world Japan
Nonaka M, Komori Y, Isozaki H, Ueno K, Kamei T, Takeda J, Nonaka Y, Yabe I, Zaitsu M, Nakashima K, Asai A
Childs Nerv Syst, 2022年 - Effect of donepezil for dementia prevention in Parkinson’s disease with severe hyposmia (The DASH-PD study): A randomized long-term placebo-controlled trial
Baba T, Takeda A, Murakami A, Koga T, Isomura T, Mori E, DASH-PD study group
EClinicalMedicine, 51, 101571, 101571, 2022年, [国際誌]
英語, 研究論文(学術雑誌), BACKGROUND: Dementia greatly contributes to poor prognosis in patients with Parkinson's disease (PD). We previously reported that severe olfactory dysfunction may be a good predictor of Parkinson's disease dementia (PDD). In this trial, we investigated whether early administration of donepezil to patients with severe hyposmia can reduce the development of PDD. METHODS: This was a multi-centre, randomized, double-blind, parallel group, placebo-controlled trial in patients with non-demented PD with severe hyposmia (The Donepezil Application for Severe Hyposmic Parkinson's Disease [DASH-PD] study). A total of 201 patients were randomly allocated to receive donepezil or placebo in addition to standard therapy for PD. Patients were followed up every 6 months until the onset of PDD or for a maximum of 4 years. The primary endpoint was the onset of dementia. The secondary endpoint was cognitive impairment measured by Addenbrooke's Cognitive Examination-Revised (ACE-R) and the Clinical Dementia Rating (CDR).(UMIN000009958: February 2013 to May 2019). FINDINGS: A total of 201 hyposmic patients with PD were randomly assigned to a treatment: 103 to donepezil and 98 to placebo. Overall, 141 (70%) patients completed the 4-year intervention. During follow-up, 7 of 103 (6.8%) patients in the donepezil group and 12 of 98 (12.2%) patients in the placebo group developed PDD; however, the hazard ratio of PDD incidence was not statistically significant (hazard ratio (HR), 0.609; 95% confidence interval, 0.240 to 1.547; p = 0.2969). At week 208, the patients in the donepezil group had better scores on the ACE-R (p < 0.005) and the CDR (p < 0.005) than those taking placebo. INTERPRETATION: Administration of donepezil to PD patients with severe olfactory dysfunction for 4 years did not change the incidence of dementia but had a beneficial effect on neuropsychological function, with good tolerability. FUNDING: The Ministry of Health Labour and Welfare and the Japan Agency for Medical Research and Development provided funding for this study. - Clinical features of anti-mitochondrial M2 antibody-positive myositis: case series of 17 patients
Nagai A, Nagai T, Yaguchi H, Fujii S, Uwatoko H, Shirai S, Horiuchi K, Iwata I, Matsushima M, Ura S, Anzai T, Yabe I (corresponding author
J Neurol Sci, 442, 120391, 120391, 2022年, [国際誌]
英語, 研究論文(学術雑誌), OBJECTIVE: In 2012, a large number of myositis cases with anti-mitochondrial M2 (AMA-M2) antibody, which had well been known as the serological hallmark for primary biliary cholangitis (PBC), were reported in Japan. Recently, some case series from Japan, France, America, China and India have shown that approximately 2.5% to 19.5% of patients with myositis have AMA-M2 antibody. The objective of this study was to clarify the prevalence, clinical features, treatment outcome, and severity determinants of AMA-M2 positive myositis. METHODS: This study was a multicenter observational study. We enrolled patients who were diagnosed with myositis during a ten-year period between 2012 and 2021. RESULTS: Of the total of 185 patients with inflammatory myopathy, 17 patients were positive for AMA-M2 antibody. The typical symptoms were weakness mainly involving paravertebral muscles, weight loss, respiratory failure, and cardiac complications. Thirteen of the 17 patients had cardiac complications. A strong correlation was found between respiratory failure and modified Rankin Scale (mRS) score. A strong correlation was also found between respiratory failure and body weight, indicating that weight loss can be an indicator of potential progression of respiratory failure. Six of the 17 patients were complicated by malignancy. CONCLUSIONS: This study showed significant correlations between % vital capacity (VC), body mass index (BMI), and mRS score in patients with AMA-M2-positive myositis. Immunotherapy often improved CK level and respiratory dysfunction. We therefore propose that %VC and BMI should be monitored as disease indicators in treatment of AMA-M2-positive myositis. - Practice of hereditary ATTR amyloidosis in non-endemic areas in Japan
Matsushima M, Tarisawa M, Nomura T, Oshima Y, Yoshino M, Shibata Y, Wakita M, Shirai S, Takahashi-Iwata I, Yaguchi H, Yabe I
Intern Med, 2022年 - 成人発症の遺伝性神経・筋疾患における発症前診断の全国調査-治療法確立時代の体制構築に向けて-
柴田有花,松島理明,加藤ももこ,張 香理,中村勝哉,織田克利,吉田邦広,関島良樹,戸田達史,矢部一郎(corresponding)
臨床神経学, 62, 10, 773, 780, (一社)日本神経学会, 2022年, [最終著者, 責任著者]
日本語, 遺伝性神経・筋疾患に対する治療薬の開発・研究の進展により,早期治療を目的とした発症前診断と遺伝カウンセリングの必要性が増大すると予想されるが,本邦には発症前診断に対する統一した見解に基づく実施手順が存在しない.標準化された実施体制構築のための基礎資料とすることを目的に,全国の遺伝子医療部門を対象に現状調査を実施した(回答率67.4%).質問紙調査の結果,約60%の施設が発症前診断実施までの手順を独自に定めていたが,内容は施設により異なった.半構造化面接調査では,対象者の経験や見解から体制構築に必要な要因が抽出された.今後,体制構築の一助となる発症前診断に関する標準的な手順書が求められる.(著者抄録) - 新しい診断基準~パーキンソン病研究Up date
江口克紀, 矢部一郎
BIO Clinica, 37, 5, 11, 15, 2022年, [最終著者]
日本語 - 科学的なプレゼンテーションと発表の仕方
松島理明, 矢部一郎
Brain and Nerve, 74, 17, 21, 2022年 - 【脳神経内科医のキャリアパスとリーダーシップ】科学的なプレゼンテーションと発表の仕方
松島 理明, 矢部 一郎
BRAIN and NERVE: 神経研究の進歩, 74, 1, 0017, 0021, (株)医学書院, 2022年01月
日本語, <文献概要>効果的でわかりやすい発表を行うために,スライド,ポスターともに聴衆の印象に残るような見映えを意識して作成することが重要である。1枚のスライドに示す情報量は多くせず,見やすく作成することが望ましい。また,発表の最初に全体の構成を示し,短い言葉や文で内容を組み立てることが推奨される。さらに,聴衆が理解しやすい発表をするために,事前練習を十分に行い,自分自身で発表内容をしっかりと咀嚼しておく必要がある。 - 脳深部刺激療法において電極周囲air貯留による可逆的なインピーダンス異常が生じた一例
越前谷 行真, 山崎 和義, 白井 慎一, 江口 克紀, 松島 理明, 矢部 一郎
日本定位・機能神経外科学会プログラム・抄録集, 61回, 106, 106, (一社)日本定位・機能神経外科学会, 2022年01月
日本語 - [Methods of Scientific Presentation and Announcement].
Masaaki Matsushima, Ichiro Yabe
Brain and nerve = Shinkei kenkyu no shinpo, 74, 1, 17, 21, 2022年01月, [国内誌]
日本語, 研究論文(学術雑誌), The appearance of slides and posters is important to allow an effective and easy-to-understand presentation. It is desirable to limit the amount of information shown on one slide, paying attention to the layout, colors, fonts, etc., and to create easy-to-read slides. At the beginning of the presentation, it is recommended to show the outline of the whole presentation, and to assemble the contents by connecting short words and sentences. In addition, to make a presentation that is easy for the audience to understand, it is necessary to practice thoroughly in advance and to be familiar with the content of the presentation. - Inappropriate Metacognitive Status Increases State Anxiety in Genetic Counseling Clients.
Shibata Y, Matsushima M, Takeuchi M, Kato M, Yabe I
Frontiers in psychology, 13, 871416, 871416, 2022年, [最終著者], [国際誌]
英語, 研究論文(学術雑誌), Background: Many genetic counseling (GC) studies have focused on anxiety status because clients of GC often feel anxious during their visits. Metacognition is known to be one of the causes of having an inappropriate thinking style. In this study, we examined the relationship between anxiety and the metacognitive status of GC clients according to their characteristics. Methods: The participants were 106 clients who attended their first GC session in our hospital from November 2018 to March 2021. The survey items were the clients' characteristics, anxiety status at the time of the visit, and metacognitive status. Results: High state anxiety and high trait anxiety were observed in 34.9 and 11.3% of clients, respectively. Clients who were a relative or had a family history were significantly more likely to have high state anxiety. As for metacognitive status, only negative beliefs about thoughts concerning uncontrollability and danger were associated with having an anxiety status. Furthermore, multivariate analysis showed that negative beliefs about thoughts concerning uncontrollability and danger were an independent determinant of higher state anxiety, but not being a relative or having a family history. Metacognitive status scores were significantly lower in clients than in the control group. Conclusion: State anxiety was shown to be more dependent on negative beliefs about thoughts concerning uncontrollability and danger of GC clients than their characteristics such as being a relative or having a family history. The results of this study will contribute to the development of new GC psychosocial support measures to address the anxiety of GC clients. - Quantitative magnetic resonance imaging for evaluating of the cerebrospinal fluid kinetics with 17O-labeled water tracer: A preliminary report
Sugimori H, Kameda H, Harada T, Ishizaki K, Kajiyama M, Kimura T, Udo N, Matsushima M, Nagai A, Wakita M, Kusumi I, Yabe I, Kudo K
Magnetic Resonance Imaging, 87, 77, 85, 2022年, [国際誌]
英語, 研究論文(学術雑誌), The aim of this study was to evaluate the feasibility of kinetic analysis of cerebrospinal fluid (CSF) using 17O-labeled water tracer. Four subjects (two idiopathic normal pressure hydrocephalus (iNPH) and two possible AD dementia patients) were prospectively included. Injectable formulation of 17O-labeled water containing 10 mol% of H217O (PSO17), was intrathecally administered to the subjects with the lateral decubitus position between the 3rd and 4th lumbar vertebrae. MRI acquisitions were performed in four-time points, before PSO17 administration, 1, 8, and 24 h after PSO17 administration. The 3-dimensional fast spin echo sequence was used. After image registration for all four-time points data, polygonal regions of interest (ROIs) were set in the 14 regions to obtain the signal intensity of CSF. Each signal intensity within the ROI was converted to 17O concentration [%]. The peak concentration at one hour after administration, the slope of concentration changes after PSO17 administration [%/s], and the root mean square error (RMSE) for evaluating the performance of a fitting were calculated. There was no significant difference in peak concentration between the iNPH and AD group. The slope in the AD group (-2.25 ± 1.62 × 10-3 [%/h]) was significantly smaller than in the iNPH group (-1.21 ± 2.31 × 10-3 [%/h]), which suggests the speed of CSF clearance in the iNPH group was slower than AD group. The RMSE indicating the fit to the concentration change in the AD group (4.86 ± 4.74 × 10-3) was also significantly smaller than in the iNPH group (8.64 ± 7.56 × 10-3). The kinetic evaluation of CSF using 17O-labeled water was feasible, and this preliminary study suggests that the differentiation of iNPH and possible AD dementia can be achieved using this method. - [A case of Guillain-Barré syndrome following hepatitis E virus infection].
Monami Tarisawa, Ryo Ando, Katsuki Eguchi, Megumi Abe, Masaaki Matsushima, Ichiro Yabe
Rinsho shinkeigaku = Clinical neurology, 61, 12, 869, 873, 2021年12月22日, [国内誌]
日本語, 研究論文(学術雑誌), An 81-year-old man presented with limb weakness and dysesthesia approximately 10 days after eating pork liver. His neurological examination revealed muscle weakness predominantly centered in the lower limbs and absence of deep tendon reflex, and cerebrospinal fluid analysis showed elevated proteins with normal cell counts. Furthermore, his nerve conduction studies revealed distal motor latency prolongation and decreased motor nerve conduction velocities in the bilateral median, ulnar, tibial, and peroneal nerves. Lastly, serological analysis was performed for hepatitis E virus markers, resulting in a positive result for hepatitis E virus (HEV)-IgA antibody and HEV-RNA. Given all these findings, the patient was diagnosed with acute HEV-associated Guillain-Barré syndrome (GBS), and intravenous immunoglobulin treatment was administered for five days. Following this, muscle weakness and dysesthesia gradually improved. As observed in this report, the number of HEV-associated GBS cases has been increasing over the past several years. Therefore, HEV infection should be considered in GBS patients who have a history of pork consumption or have been suffering from liver dysfunction. - 【アルツハイマー病以外の神経変性疾患】多系統萎縮症/特発性小脳失調症/遺伝性脊髄小脳変性症
工藤 彰彦, 松島 理明, 矢部 一郎
Geriatric Medicine, 59, 12, 1177, 1180, (株)ライフ・サイエンス, 2021年12月
日本語, 脊髄小脳変性症は孤発性の疾患である多系統萎縮症と特発性小脳失調症、遺伝性脊髄小脳変性症に大きく分けられる。多系統萎縮症は小脳性運動失調、パーキンソニズム、自律神経障害を中心に多彩な臨床症状を来すため、症状と病期に応じた適切なマネジメントを実践することが重要である。特発性小脳失調症については近年、診断基準が新たに定義されており、二次性失調症の除外が重要である。遺伝性脊髄小脳変性症の診療では脳神経内科診療のみならず、遺伝学的検査と遺伝カウンセリングを基盤とした臨床遺伝診療を実践する必要がある。(著者抄録) - E型肝炎ウイルス感染を契機に発症したGuillain-Barre症候群の1例
足澤 萌奈美, 安藤 遼, 江口 克紀, 阿部 恵, 松島 理明, 矢部 一郎
臨床神経学, 61, 12, 869, 873, (一社)日本神経学会, 2021年12月
日本語, 症例は81歳男性.豚レバー摂取後約10日で四肢脱力と異常感覚が出現した.徒手筋力検査では下肢優位の筋力低下があり,深部腱反射は四肢で低下していた.髄液検査で蛋白細胞解離,神経伝導検査では四肢で脱髄所見を認めた.血液検査ではE型肝炎ウイルス(hepatitis E virus,以下HEVと略記)-IgA,HEV-RNAがともに陽性であり,HEV感染を契機としたGuillain-Barre症候群(GBS)と診断した.免疫グロブリン大量静注療法を施行し,筋力低下・異常感覚はともに軽快した.近年HEV感染によるGBSの報告数は増加傾向であり,豚肉の摂食歴や原因不明の肝機能障害がある症例においては,HEV感染も考慮し精査を行うべきである.(著者抄録) - Anti-myelin oligodendrocyte glycoprotein antibody-associated encephalitis with cortical hyperintensity and pathologically confirmed extensive demyelination
Kosuke Iwami, Ikuko Takahashi-Iwata, Katsuki Eguchi, Azusa Nagai, Shinichi Shirai, Masaaki Matsushima, Hiroaki Yaguchi, Shinichi Nakazato, Satoshi Tanikawa, Yoshiaki Tagawa, Yasuhiro Shinmei, Toshiyuki Takahashi, Shinya Tanaka, Ichiro Yabe
Neuroimmunology Reports, 1, 100032, 100032, Elsevier BV, 2021年12月
研究論文(学術雑誌) - Correlation of active contact location with weight gain after subthalamic nucleus deep brain stimulation: a case series
Katsuki Eguchi, Shinichi Shirai, Masaaki Matsushima, Takahiro Kano, Kazuyoshi Yamazaki, Shuji Hamauchi, Toru Sasamori, Toshitaka Seki, Kenji Hirata, Mayumi Kitagawa, Mika Otsuki, Tohru Shiga, Kiyohiro Houkin, Hidenao Sasaki, Ichiro Yabe
BMC Neurology, 21, 1, Springer Science and Business Media LLC, 2021年12月
研究論文(学術雑誌),Abstract
Background
Weight gain (WG) is a frequently reported side effect of subthalamic deep brain stimulation; however, the underlying mechanisms remain unclear. The active contact locations influence the clinical outcomes of subthalamic deep brain stimulation, but it is unclear whether WG is directly associated with the active contact locations. We aimed to determine whether WG is associated with the subthalamic deep brain stimulation active contact locations.
Methods
We enrolled 14 patients with Parkinson’s disease who underwent bilateral subthalamic deep brain stimulation between 2013 and 2019. Bodyweight and body mass index were measured before and one year following the surgery. The Lead-DBS Matlab toolbox was used to determine the active contact locations based on magnetic resonance imaging and computed tomography. We also created sweet spot maps for WG using voxel-wise statistics, based on volume of tissue activation and the WG of each patient. Fluorodeoxyglucose-positron emission tomography data were also acquired before and one year following surgery, and statistical parametric mapping was used to evaluate changes in brain metabolism. We examined which brain regions’ metabolism fluctuation significantly correlated with increased body mass index scores and positron emission tomography data.
Results
One year after surgery, the body mass index increase was 2.03 kg/m2. The sweet spots for WG were bilateral, mainly located dorsally outside of the subthalamic nucleus (STN). Furthermore, WG was correlated with increased metabolism in the left limbic and associative regions, including the middle temporal gyrus, inferior frontal gyrus, and orbital gyrus.
Conclusions
Although the mechanisms underlying WG following subthalamic deep brain stimulation are possibly multifactorial, our findings suggest that dorsal stimulation outside of STN may lead to WG. The metabolic changes in limbic and associative cortical regions after STN-DBS may also be one of the mechanisms underlying WG. Further studies are warranted to confirm whether dorsal stimulation outside of STN changes the activities of these cortical regions.
- Association of Smoking and Generalized Manifestations of Myasthenia Gravis.
Yusei Miyazaki, Masaaki Niino, Ken Sakushima, Eri Takahashi, Ryoji Naganuma, Itaru Amino, Sachiko Akimoto, Naoya Minami, Ichiro Yabe, Seiji Kikuchi
Internal medicine (Tokyo, Japan), 2021年11月06日, [国内誌]
英語, 研究論文(学術雑誌), Objectives Smoking is a known risk factor for the development and progression of autoimmune diseases. Previous studies in ocular myasthenia gravis (MG) patients showed that smoking is associated with the severity of symptoms and progression to generalized MG. However, whether smoking affects MG symptoms in patients with a broader clinical spectrum of presentations is unknown. Therefore, in this study, the associations of smoking with the clinical characteristics of MG were analyzed in a cohort of patients including those with generalized, seronegative, and thymoma-associated MG. Methods The smoking history was investigated in a cross-sectional study of 187 patients with MG followed in a referral hospital for neurology. The association of smoking with MG-activities of daily living score at survey, the presence of generalized manifestations, and the age of onset was assessed using multiple regression models. Results Neither current nor prior smoking habit was associated with the MG-activities of daily living score at survey. However, smoking exposure after MG onset was significantly associated with the presence of generalized manifestations during the disease course (odds ratio, 3.57; 95% confidence interval, 1.04, 12.3). The smoking history before or at onset of MG was not associated with the age of onset. Conclusion Smoking exposure after the onset is associated with generalized manifestations of MG in our cohort of patients with a broad clinical spectrum of presentations. - 親のリピート数の短い筋強直性ジストロフィー1型家系では父親からの遺伝で表現促進現象が認められる
柴田 有花, 松島 理明, 加藤 ももこ, 矢部 一郎
日本遺伝カウンセリング学会誌, 42, 3, 319, 323, (一社)日本遺伝カウンセリング学会, 2021年11月
日本語, 筋強直性ジストロフィー1型(myotonic dystrophy type 1:DM1)は、DMPK遺伝子のCTGリピートの過剰伸長を原因とするトリプレットリピート病であり、次世代に変異アレルを受け継いだ際に表現促進現象が起きる場合がある。今回、明らかなDM1関連症状はないがCTG52リピートと軽微な伸長を認めた50代の父親と、握力・上肢・頸部屈筋の筋力低下、左室収縮障害等を呈しCTG350リピートを認めた20代の息子の父子例を経験した。古典型DM1症例に対する遺伝カウンセリングを実施する際に、両親に明らかなDM1関連症状がない場合は、父親からの表現促進現象が起きている可能性も考慮し、家族歴聴取および情報提供を行う必要がある。(著者抄録) - 姿勢推定機械学習モデルを利用した正常圧水頭症患者の歩行ケイデンス定量評価
江口 克紀, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
神経治療学, 38, 6, S276, S276, (一社)日本神経治療学会, 2021年10月
日本語 - 感覚障害を合併し遠位優位の筋力低下を生じた重症筋無力症の1例
工藤 彰彦, 大岩 慧, 白井 慎一, 岩田 育子, 松島 理明, 矢口 裕章, 矢部 一郎
神経治療学, 38, 6, S287, S287, (一社)日本神経治療学会, 2021年10月
日本語 - 免疫介在性小脳性運動失調症における抗Sez6l2抗体の検討
阿部 恵, 矢口 裕章, 長井 梓, 白井 慎一, 岩田 育子, 松島 理明, 芦田 真士, 笠井 高士, 木村 暁夫, 下畑 享良, 矢部 一郎
神経免疫学, 26, 1, 133, 133, (一社)日本神経免疫学会, 2021年10月
日本語 - Progressive multifocal leukoencephalopathy with mild clinical conditions and detection of archetype-like JC virus in cerebrospinal fluid.
Kosuke Iwami, Kazuo Nakamichi, Masaaki Matsushima, Azusa Nagai, Shinichi Shirai, Sho Nakakubo, Ikuko Takahashi-Iwata, Masafumi Yamada, Ichiro Yabe
Journal of neurovirology, 27, 6, 917, 922, 2021年09月22日, [国際誌]
英語, 研究論文(学術雑誌), Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system with a poor prognosis and is primarily caused by JC virus (JCV) with a mutation called prototype. We encountered a case of PML with moderate progression and analyzed the mutational patterns of JCV in the cerebrospinal fluid (CSF). A 19-year-old Japanese woman with mild neurological symptoms was diagnosed with combined immunodeficiency following pneumocystis pneumonia. Brain magnetic resonance imaging scan showed multiple brain lesions, and real-time polymerase chain reaction testing detected JCV in the CSF, leading to the diagnosis of PML. The disease course of PML was stable after administration of mefloquine and mirtazapine with immunoglobulin replacement therapy. In the JCV genome cloned from the patient CSF, DNA sequences of the gene encoding the capsid protein (VP1) and the non-coding control region exhibited small mutations. However, they were quite similar to those of the archetype JCV, which persists asymptomatically in healthy individuals. These findings provide insight into the mutational characteristics of JCV in PML with mild symptoms and progression. - AIDS治療中に脳梗塞で発症し、原因検索に苦慮した中枢神経限局性血管炎の1例
足澤 萌奈美, 江口 克紀, 阿部 恵, 岩田 育子, 松島 理明, 橋本 大吾, 杉山 拓, 矢部 一郎
NEUROINFECTION, 26, 2, 48, 48, 日本神経感染症学会, 2021年09月
日本語 - 非流暢/失文法型原発性進行性失語(naPPA)を呈したPick病
大槻 美佳, 谷川 聖, 中川 賀嗣, 廣谷 真, 江口 克紀, 白井 慎一, 岩田 育子, 松島 理明, 脇田 雅大, 芳野 正修, 大嶌 祐貴, 水島 慶一, 田中 伸哉, 佐々木 秀直, 矢部 一郎
日本神経心理学会総会プログラム・予稿集, 45回, 112, 112, 日本神経心理学会, 2021年09月
日本語 - 失構音/発語失行を主症状とする進行性非流暢性/失文法性失語(naPPA)例に対する「構音の歪み」の軽減に向けた治療的介入の試み
高倉 祐樹, 大槻 美佳, 芳野 正修, 脇田 雅大, 松島 理明, 廣谷 真, 矢部 一郎
日本神経心理学会総会プログラム・予稿集, 45回, 113, 113, 日本神経心理学会, 2021年09月
日本語 - Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family
Kato M, Michigami T, Tachikawa K, Kato M, Yabe I, Shimizu T, Asaka T, Kitagawa Y, Atsumi T
J Bone Miner Metab, 39, 5, 804, 809, 2021年09月 - 脊髄性筋萎縮症の出生前遺伝学的検査についての検討
加藤ももこ, 柴田有花, 矢部一郎
難病と在宅ケア, 27, 5, 41, 45, 2021年08月 - Chronic deep brain stimulation reduces cortical β-γ phase amplitude-coupling in patients with Parkinson's disease
Katsuki Eguchi, Shinichi Shirai, Masaaki Matsushima, Takahiro Kano, Tomohiro Ichikawa, Kazuyoshi Yamazaki, Shuji Hamauchi, Toru Sasamori, Toshitaka Seki, Mayumi Kitagawa, Hideaki Shiraishi, Kiyohiro Houkin, Hidenao Sasaki, Ichiro Yabe
Parkinsonism & Related Disorders, 89, 148, 150, Elsevier BV, 2021年08月
研究論文(学術雑誌) - 卵巣奇形腫の切除を受ける患者における抗NMDA受容体脳炎の発症率(Incidence of anti-NMDAR encephalitis in patients undergoing resection of ovarian teratoma)
Yaguchi Hiroaki, 辻 隆裕, 平山 恵美, 田中 惠子, 水戸 泰紀, 矢部 一郎, 田島 康敬
てんかん研究, 39, 2, 381, 381, (一社)日本てんかん学会, 2021年07月
英語 - 高度難聴、視力低下、著明な脳石灰化を主症状としたミトコンドリア病(m.12264C>T)の1例
大岩 慧, 瀬尾 祥, 足澤 萌奈美, 田中 大貴, 工藤 彰彦, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 長沼 亮滋, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎, 西山 一三, 後藤 雄一
臨床神経学, 61, 7, 502, 502, (一社)日本神経学会, 2021年07月
日本語 - B症状や末梢神経障害を契機に診断された、クリオグロブリン(CG)血管炎の1例
足澤 萌奈美, 大岩 慧, 瀬尾 祥, 田中 大貴, 工藤 彰彦, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 原田 晋平, 遠藤 知之, 矢部 一郎
臨床神経学, 61, 7, 503, 503, (一社)日本神経学会, 2021年07月
日本語 - 大脳皮質脳炎で再発した抗MOG抗体陽性脳炎の1例
田中 大貴, 大岩 慧, 瀬尾 祥, 足澤 萌奈美, 工藤 彰彦, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎
臨床神経学, 61, 7, 503, 503, (一社)日本神経学会, 2021年07月
日本語 - 猫ひっかき病による脳症後にパーキンソニズムを呈した1例
中村 雅一, 浦 茂久, 矢部 一郎, 大槻 美佳, 西村 洋昭, 相馬 広幸, 輿水 修一, 新保 和賢, 緒方 昭彦
臨床神経学, 61, 7, 504, 504, (一社)日本神経学会, 2021年07月
日本語 - 猫ひっかき病による脳症後にパーキンソニズムを呈した1例
中村 雅一, 浦 茂久, 矢部 一郎, 大槻 美佳, 西村 洋昭, 相馬 広幸, 輿水 修一, 新保 和賢, 緒方 昭彦
臨床神経学, 61, 7, 504, 504, (一社)日本神経学会, 2021年07月
日本語 - 機械学習による歩行動画からのパーキンソン病患者UPDRSスコアの予測
江口 克紀, 白井 慎一, 松島 理明, 加納 崇裕, 山崎 和義, 濱内 祝嗣, 笹森 徹, 関 俊隆, 北川 まゆみ, 大槻 美佳, 寳金 清博, 佐々木 秀直, 矢部 一郎
パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 15回, 75, 75, Movement Disorder Society of Japan (MDSJ), 2021年07月
日本語 - 高度難聴、視力低下、著明な脳石灰化を主症状としたミトコンドリア病(m.12264C>T)の1例
大岩 慧, 瀬尾 祥, 足澤 萌奈美, 田中 大貴, 工藤 彰彦, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 長沼 亮滋, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎, 西山 一三, 後藤 雄一
臨床神経学, 61, 7, 502, 502, (一社)日本神経学会, 2021年07月
日本語 - B症状や末梢神経障害を契機に診断された、クリオグロブリン(CG)血管炎の1例
足澤 萌奈美, 大岩 慧, 瀬尾 祥, 田中 大貴, 工藤 彰彦, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 原田 晋平, 遠藤 知之, 矢部 一郎
臨床神経学, 61, 7, 503, 503, (一社)日本神経学会, 2021年07月
日本語 - 大脳皮質脳炎で再発した抗MOG抗体陽性脳炎の1例
田中 大貴, 大岩 慧, 瀬尾 祥, 足澤 萌奈美, 工藤 彰彦, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎
臨床神経学, 61, 7, 503, 503, (一社)日本神経学会, 2021年07月
日本語 - Randomized phase 2 study of perampanel for sporadic amyotrophic lateral sclerosis
Hitoshi Aizawa, Haruhisa Kato, Koji Oba, Takuya Kawahara, Yoshihiko Okubo, Tomoko Saito, Makiko Naito, Makoto Urushitani, Akira Tamaoka, Kiyotaka Nakamagoe, Kazuhiro Ishii, Takashi Kanda, Masahisa Katsuno, Naoki Atsuta, Yasushi Maeda, Makiko Nagai, Kazutoshi Nishiyama, Hiroyuki Ishiura, Tatsushi Toda, Akihiro Kawata, Koji Abe, Ichiro Yabe, Ikuko Takahashi-Iwata, Hidenao Sasaki, Hitoshi Warita, Masashi Aoki, Gen Sobue, Hidehiro Mizusawa, Yutaka Matsuyama, Tomohiro Haga, Shin Kwak
Journal of Neurology, 269, 2, 885, 896, Springer Science and Business Media LLC, 2021年06月30日, [国際誌]
英語, 研究論文(学術雑誌),Abstract
Objective
To evaluate the efficacy and safety of perampanel in patients with sporadic amyotrophic lateral sclerosis (SALS).
Methods
This randomized, double-blind, placebo-controlled, multicenter, phase 2 clinical study was conducted at 12 sites. Patients with probable or definite ALS as defined by revised El Escorial criteria were enrolled. Sixty-six patients were randomly assigned (1:1:1) to receive placebo, 4 mg perampanel, or 8 mg perampanel daily for 48 weeks. Adverse events (AEs) were recorded throughout the trial period. The primary efficacy outcome was the change in Amyotrophic Lateral Sclerosis Rating Scale-Revised (ALSFRS-R) score after 48 weeks of treatment.
Results
One patient withdrew before starting the treatment. Of 65 patients included, 18 of 22 patients randomized to placebo (82%), 14 of 22 patients randomized to 4 mg perampanel (64%), and 7 of 21 patients randomized to 8 mg perampanel (33%) completed the trial. There was a significant difference in the change of ALSFRS-R scores [− 8.4 (95% CI − 13.9 to − 2.9);p = 0.015] between the placebo and the perampanel 8 mg group, primarily due to worsening of the bulbar subscore in the perampanel 8 mg group. Serious AEs were more frequent in the perampanel 8 mg group than in the placebo group (p = 0.0483).
Conclusions
Perampanel was associated with a significant decline in ALSFRS-R score and was linked to worsening of the bulbar subscore in the 8 mg group.
- 脳神経内科医を対象とした遺伝カウンセリング・ロールプレイの試み
竹内 千仙, 神原 容子, 西郷 和真, 矢部 一郎, 石浦 浩之, 松川 敬志, 池川 敦子, 柴田 有花, 張 香理, 吉田 邦広
日本遺伝カウンセリング学会誌, 42, 1, 143, 152, (一社)日本遺伝カウンセリング学会, 2021年05月
日本語, 脳神経内科領域には遺伝性疾患が多く、遺伝カウンセリングの重要性は広く認識されているものの、実際にその知識やスキルを十分に習得している脳神経内科医は少ない。われわれは第60回日本神経学会学術大会において、代表的な神経疾患についての遺伝カウンセリング教育コースを開催したのでその開催概要を報告し、参加者による評価を報告する。教育コースには27名の参加があり、参加者がクライエント役と遺伝カウンセリング担当者役を担い、ロールプレイを行った。終了後のアンケートでは、参加者の理解度・満足度ともに非常に高く、ロールプレイを行ったこと自体が高評価であった。教育コースの内容に対する否定的な意見はなく、継続を希望する声も多かった。脳神経内科医にとって、ロールプレイにより模擬的な遺伝カウンセリングを学ぶことは有効であり、今後の継続を予定している。(著者抄録) - Clinical significance of comprehensive genomic profiling tests covered by public insurance in patients with advanced solid cancers in Hokkaido, Japan.
Junko Kikuchi, Yoshihito Ohhara, Kohichi Takada, Hiroki Tanabe, Kazuteru Hatanaka, Toraji Amano, Kanako C Hatanaka, Yutaka Hatanaka, Takashi Mitamura, Momoko Kato, Yuka Shibata, Ichiro Yabe, Akira Endoh, Yoshito Komatsu, Yoshihiro Matsuno, Minako Sugiyama, Atsushi Manabe, Akihiro Sakurai, Masato Takahashi, Hirohito Naruse, Yoshihiro Torimoto, Hirotoshi Dosaka-Akita, Ichiro Kinoshita
Japanese journal of clinical oncology, 51, 5, 753, 761, 2021年04月30日, [国際誌]
英語, 研究論文(学術雑誌), BACKGROUND: Comprehensive cancer genomic profiling has been used recently for patients with advanced solid cancers. Two cancer genomic profiling tests for patients with no standard treatment are covered by Japanese public health insurance since June 2019. METHODS: We prospectively analyzed data of 189 patients with solid cancers who underwent either of the two-cancer genomic profiling tests at Hokkaido University Hospital and its liaison hospitals and whose results were discussed in molecular tumor board at Hokkaido University Hospital between August 2019 and July 2020. RESULTS: All 189 patients had appropriate results. Actionable gene alterations were identified in 93 patients (49%). Frequent mutations included PIK3CA (12%) mutation, BRCA1/2 alteration (7%), ERBB2 amplification (6%) and tumor mutation burden-High (4%). The median turnaround time from sample shipping to acquisition by the expert panel was 26 days. Although 115 patients (61%) were provided with information for genotype-matched therapies, only 21 (11%) received them. Notably, four of eight patients below the age of 20 years were provided information for genotype-matched therapies, and three received them. Their response rates and disease control rates were 29% and 67%, respectively. Most patients who did not undergo the genotype-matched therapies were provided information for only investigational drugs in phases I and II at distant clinical trial sites in central Japan. Twenty-six patients were informed of suspected germline findings, while 11 patients (42%) received genetic counseling. CONCLUSIONS: The publicly reimbursed cancer genomic profilings may lead to the modest but favorable therapeutic efficacy of genotype-matched therapy for solid cancer patients with no standard therapy. However, poor access to genotype-matched therapy needs to be resolved. - The disease sites of female genital cancers of BRCA1/2-associated hereditary breast and ovarian cancer: a retrospective study.
Takashi Mitamura, Masayuki Sekine, Masami Arai, Yuka Shibata, Momoko Kato, Shiro Yokoyama, Hiroko Yamashita, Hidemichi Watari, Ichiro Yabe, Hiroyuki Nomura, Takayuki Enomoto, Seigo Nakamura
World journal of surgical oncology, 19, 1, 36, 36, 2021年02月02日, [国際誌]
英語, Disease sites of female genital tract cancers of BRCA1/2-associated hereditary breast and ovarian cancer (HBOC) are less understood than non-hereditary cancers. We aimed to elucidate the disease site distribution of genital cancers in women with the germline BRCA1 and BRCA2 pathogenic variants (BRCA1+ and BRCA2+) of HBOC. For the primary disease site, the proportion of fallopian tube and peritoneal cancer was significantly higher in BRCA2+ (40.5%) compared with BRCA1+ (15.4%) and BRCA- (no pathogenic variant, 12.8%). For the metastatic site, the proportion of peritoneal dissemination was significantly higher in BRCA1+ (71.9%) than BRCA- (55.1%) and not different from BRCA2+ (71.4%). With one of the most extensive patients, this study supported the previous reports showing that the pathogenic variants of BRCA1/2 were involved in the female genitalia's disease sites. - パーキンソン病における両側STN-DBS後の体重増加と刺激位置との関連についての検討
江口 克紀, 矢部 一郎, 白井 慎一, 松島 理明, 加納 崇裕, 山崎 和義, 濱内 祝嗣, 笹森 徹, 関 俊隆, 北川 まゆみ, 大槻 美佳, 寳金 清博, 佐々木 秀直
パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 14回, 83, 83, Movement Disorder Society of Japan (MDSJ), 2021年02月
日本語 - 北海道大学病院における新型コロナウイルス感染症の影響と対策
加藤ももこ, 柴田有花, 矢部一郎(corresponding author
日本遺伝カウンセリング学会誌, 41, 4, 280, 283, 2021年02月
日本語 - EEG contribution to the diagnosis of antibody negative autoimmune encephalitis: a case report
Mito M, Sakurai K, Nakamura Y, Nagai A, Seo S, Tanaka K, Yabe I, Kusumi I
Case Rep Neurol, 13, 3, 739, 743, 2021年, [国際誌]
英語, Autoimmune encephalitis (AE) is a group of inflammatory brain diseases that are characterized by prominent neuropsychiatric symptoms. Early therapeutic intervention is important for AE. Therefore, without waiting for autoantibody test results, clinicians must consider the possibility of AE based solely on clinical symptoms and conventional test results. The case described herein is of antibody-negative encephalitis with abnormalities shown only by EEG, which contributed to the diagnosis and treatment. The patient, a 20-year-old woman, showed autonomic seizures in addition to movement disorders, psychiatric symptoms, and cognitive dysfunction, which worsened subacutely. Her seizures and movement disorders were not responsive to antiepileptic medications. Results obtained from MRI and cerebrospinal fluid (CSF) were normal; EEG findings showed repeated spikes in the right temporal area, with changes over time. Based on the clinical course and EEG, along with administered immunotherapy, which resolved seizures, movement disorders, and psychiatric symptoms, we suspected AE. For diagnosis of AE and for evaluating treatment responsiveness, EEG was useful. Results indicate that EEG can assist clinicians even with AE cases for which MRI and CSF findings are normal. - E型肝炎ウイルス感染を契機に発症したGuillain-Barré症候群の1例
足澤萌奈美, 安藤 遼, 江口克紀, 阿部 恵, 松島理明, 矢部一郎
臨床神経学, 61, 869, 873, 2021年 - 親のリピート数が短い筋強直性1型家系は父親からの遺伝で促進現象が認められる
柴田有花, 松島理明, 加藤ももこ, 矢部一郎
日本遺伝カウンセリング学会誌, 42, 319, 323, 2021年 - A prospective registry study of multiple system atrophy in Hokkaido, Japan: natural history and symptom assessment scales followed for 5 years
Matsushima M, Yabe I, Sakushima K, Kanatani Y, Nishimoto N, Matsuoka T, Sawada J, Uesugi H, Sako K, Takei A, Tamakoshi A, Shimohama S, Sato N, Kikuchi S, Sasaki H
BMJ Open, 11, e045100, 2021年 - Clinical significance of comprehensive genomic profiling tests covered by public insurance in patients with advanced solid cancers in Hokkaido, Japan
Kikuchi J, Ohhara Y, Takada K, Tanabe H, Hatanaka K, Amano T, Hatanaka K, Hatanaka Y, Mitamura T, Kato M, Shibata Y, Yabe I, Endoh A, Komatsu Y, Matsuno Y, Sugiyama M, Manabe A, Sakurai A, Takahashi M, Naruse H, Torimoto Y, Dosaka-Akita H, Kinoshita I
Jpn J Clin Oncol, 51, 753, 761, 2021年 - The disease sites of female genital cancers of hereditary breast and ovarian cancer: a retrospective study
Mitamura T, Sekine M, Arai M, Shibata Y, Kato M, Yokoyama S, Yamashita H, Watari H, Yabe I, Nomura H, Enomoto T, Nakamura S
World J Surg Oncol, 19, 36, 2021年 - Impact of clinical targeted sequencing on endocrine responsiveness in estrogen receptor-positive, HER2-negative metastatic breast cancer
Hagio K, Amano T, Hayashi H, Takeshita T, Oshino T, Kikuchi J, Ohhara Y, Yabe I, Kinoshita I, Nishihara H, Yamashita H
Sci Rep, 11, 8109, 2021年 - Chronic deep brain stimulation reduces cortical β-γ phase amplitude-coupling in patients with Parkinson’s disease
Eguchi K, Shirai S, Matsushima M, Kano T, Ichikawa T, Yamazaki K, Hamauchi S, Sasamori T, Seki T, Kitagawa M, Shiraishi H, Houkin K, Sasaki H, Yabe I
Parkinsonism Relat Disord, 89, 148, 150, 2021年 - Progressive multifocal leukoencephalopathy with mild clinical conditions and detection of archetype-like JC virus in cerebrospinal fluid
Iwami K, Nakamichi K, Matsushima M, Nagai A, Shirai S, Nakakubo S, Takahashi-Iwata I, Yamada M, Yabe I
J Neuroviol, 27, 917, 922, 2021年 - 神経疾患の遺伝カウンセリング・ロールプレイの試み
竹内千仙,西郷和真,矢部一郎,石浦浩之,松川敬志,神原容子,池川敦子,柴田有花,張 香理,吉田邦広
日本遺伝カウンセリング学会誌, 42, 143, 152, 2021年 - 多系統萎縮症/特発性小脳失調症/遺伝性脊髄小脳変性症
工藤彰彦, 松島理明, 矢部一郎
Geriatric Medicine, 59, 1177, 1180, 2021年 - Bassoon proteinopathy
脇田雅大, 長井 梓, 矢口裕章, 矢部一郎
脳神経内科, 95, 482, 488, 2021年 - タウオパチー病態に関与する素因遺伝子.TOPICS.
矢部一郎
医学のあゆみ, 278, 2, 164, 165, 2021年 - 剖検によりはじめて診断に至った孤発性Creutzfeldt-Jakob病(sCJD)MM2皮質型の80代男性例
豊島 貴信, 中村 洋祐, 中山 智央, 伊藤 規絵, 大久保 由希子, 小林 信義, 千葉 進, 岩田 育子, 矢部 一郎, 佐々木 秀直
臨床神経学, 61, 1, 53, 53, (一社)日本神経学会, 2021年01月
日本語 - Improved long-term survival with edaravone therapy in patients with amyotrophic lateral sclerosis: a retrospective single-center study in Japan
Houzen H, Kano T, Horiuchi K, Wakita M, Nagai A. Yabe I
Pharmaceuticals, 14, 705, 2021年, [最終著者] - Meta-iodobenzylguanidine myocardial scintigraphy in Perry disease
Mishima T, Fujioka S, Nishioka K, Li Y, Sato K, Houzen H, Yabe I, Shiomi K, Eriguchi M, Hara H, Hattori N, Tsuboi Y
Parkinsonism Relat Disord, 83, 49, 53, 2021年 - 北海道におけるプリオン病サーベイランス状況について
岩田 育子, 濱田 晋輔, 白井 慎一, 松島 理明, 森若 文雄, 矢部 一郎, 佐々木 秀直
臨床神経学, 61, 1, 53, 53, (一社)日本神経学会, 2021年01月
日本語 - 舞踏病を初発症状とした続発性抗リン脂質抗体症候群の1例
藤井 信太朗, 大嶌 祐貴, 堀内 一宏, 岩見 昴亮, 野村 太一, 長井 梓, 江口 克紀, 脇田 雅大, 佐藤 智香, 長沼 亮滋, 白井 慎一, 岩田 育子, 松島 理明, 加藤 将, 矢部 一郎
臨床神経学, 61, 1, 54, 54, (一社)日本神経学会, 2021年01月
日本語 - 長大な脊髄病変を繰り返したBing-Neel症候群の1例
大岩 慧, 瀬尾 祥, 足澤 萌奈美, 田中 大貴, 工藤 彰彦, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎, 大東 寛幸, 新野 正明
臨床神経学, 61, 1, 54, 54, (一社)日本神経学会, 2021年01月
日本語 - 非定型Logopenic型原発性進行性失語様の言語症状を呈した若年性Alzheimer病の1例
足澤 萌奈美, 大岩 慧, 瀬尾 祥, 田中 大貴, 工藤 彰彦, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 大槻 美佳, 矢部 一郎
臨床神経学, 61, 1, 55, 55, (一社)日本神経学会, 2021年01月
日本語 - Inflammatory Myopathy Associated with Anti-mitochondrial Antibody Presenting Only with Respiratory Failure
Fujii S, Horiuchi K, Oshima Y, Eguchi K, Nagai A, Iwata I, Matsushima M, Yabe I
Intern Med, 60, 3801, 3804, Japanese Society of Internal Medicine, 2021年, [最終著者]
研究論文(学術雑誌) - Adult-onset Alexander disease with transient swelling of the medulla oblongata
Oshima Y, Takahashi-Iwata I, Sato S, Harada T, Yoshida T, Yabe I, corresponding author
Neurology, 97, 602, 605, 2021年, [最終著者, 責任著者] - Myositis with Anti-mitochondrial Antibody Type 2 with Diplopia and Ptosis
Nomura T, Iwami K, Nagai A, Tsuzaka K, Yabe I
Intern Med, 60, 3325, 3328, 2021年, [最終著者] - 後遺症なく経過したダニ媒介脳炎の1例
田中大貴, 阿部 恵, 黒島研美, 浦 茂久, 吉田一人, 矢部一郎
臨床神経学, 61, 310, 313, 2021年, [最終著者] - 北海道におけるプリオン病サーベイランス状況について
岩田 育子, 濱田 晋輔, 白井 慎一, 松島 理明, 森若 文雄, 矢部 一郎, 佐々木 秀直
臨床神経学, 61, 1, 53, 53, (一社)日本神経学会, 2021年01月
日本語 - 舞踏病を初発症状とした続発性抗リン脂質抗体症候群の1例
藤井 信太朗, 大嶌 祐貴, 堀内 一宏, 岩見 昴亮, 野村 太一, 長井 梓, 江口 克紀, 脇田 雅大, 佐藤 智香, 長沼 亮滋, 白井 慎一, 岩田 育子, 松島 理明, 加藤 将, 矢部 一郎
臨床神経学, 61, 1, 54, 54, (一社)日本神経学会, 2021年01月
日本語 - 長大な脊髄病変を繰り返したBing-Neel症候群の1例
大岩 慧, 瀬尾 祥, 足澤 萌奈美, 田中 大貴, 工藤 彰彦, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎, 大東 寛幸, 新野 正明
臨床神経学, 61, 1, 54, 54, (一社)日本神経学会, 2021年01月
日本語 - 非定型Logopenic型原発性進行性失語様の言語症状を呈した若年性Alzheimer病の1例
足澤 萌奈美, 大岩 慧, 瀬尾 祥, 田中 大貴, 工藤 彰彦, 阿部 恵, 江口 克紀, 長井 梓, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 大槻 美佳, 矢部 一郎
臨床神経学, 61, 1, 55, 55, (一社)日本神経学会, 2021年01月
日本語 - Multiple system atrophy in Hokkaido, Japan: a prospective registry study of natural history and symptom assessment scales followed for 5 years
Masaaki Matsushima, Ichiro Yabe, Ken Sakushima, Yasuhiro Kanatani, Naoki Nishimoto, Takeshi Matsuoka, Jun Sawada, Haruo Uesugi, Kazuya Sako, Asako Takei, Akiko Tamakoshi, Shun Shimohama, Norihiro Sato, Seiji Kikuchi, Hidenao Sasaki
BMJ OPEN, 11, 2, BMJ PUBLISHING GROUP, 2021年
英語, 研究論文(学術雑誌), Objectives Multiple system atrophy (MSA) is a refractory neurodegenerative disease, but novel treatments are anticipated. An accurate natural history of MSA is important for clinical trials, but is insufficient. This regional registry was launched to complement clinical information on MSA. Setting Patient recruitment started in November 2014 and is ongoing at the time of submission. The number of participating facilities was 66. Postal surveys were sent to medical facilities and patients with MSA in Hokkaido, Japan. Participants After obtaining written consent from 196 participants, 184 overview surveys and 115 detailed surveys were conducted. Primary and secondary outcome measures An overview survey evaluated conformity to diagnostic criteria and a detailed survey implemented an annual assessment based on the Unified Multiple System Atrophy Rating Scale (UMSARS). Results At the time of registration, 58.2% of patients were diagnosed with cerebellar symptoms predominant type MSA (MSA-C) and 29.9% were diagnosed with parkinsonism predominant type MSA (MSA-P). UMSARS Part score of 4 or 5 accounted for 53.8% of participants. The higher the UMSARS Part score, the higher the proportion of MSA-P. At baseline, levodopa was used by 69 patients (37.5%) and the average levodopa dose was 406.7 mg/day. The frequency of levodopa use increased over time. Eleven cases changed from MSA-C to MSA-P during the study, but the opposite was not observed. Information about survival and causes of death was collected on 54 cases. Half of deaths were respiratory-related. Sudden death was recorded even in the group with UMSARS Part score of 1. Conclusions This study is the first large-scale prospective MSA cohort study in Asia. MSA-C was dominant, but the use of antiparkinsonian drugs increased over the study period. Changes from MSA-C to MSA-P occurred, but not vice versa. - Impact of clinical targeted sequencing on endocrine responsiveness in estrogen receptor-positive, HER2-negative metastatic breast cancer
Hagio K, Amano T, Hayashi H, Takeshita T, Oshino T, Kikuchi J, Ohhara Y, Yabe I, Kinoshita I, Nishihara H, Yamashita H
Sci Rep, 11, 1, 8109, 2021年 - 脊髄小脳変性症・多系統萎縮症の治療.
松島理明, 矢部一郎
難病と在宅ケア, 印刷中, 2021年, [最終著者]
日本語 - Relationships of drooling with motor symptoms and dopamine transporter imaging in drug-naïve Parkinson's disease.
Mito Y, Yabe I, Yaguchi H, Sato C, Takei T, Terae S, Tajima Y
Clin Neurol Neurosurg, 195, 10591, 2021年
英語 - Relations of clinical symptoms with dopamine transporter imaging in drug-naïve Parkinson's disease.
Mito Y, Yabe I, Yaguchi H, Sato C, Takei T, Terae S, Tajima Y
Clin Neurol Neurosurg, 196, 105960, 2021年
英語 - Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review
Shibata Y, Matsushima M, Matsukawa T, Ishiura H, Tsuji S, Yabe I (corresponding author
J Hum Genet, 66, 5, 535, 537, 2021年, [最終著者], [国際誌]
英語, 研究論文(学術雑誌), Adrenoleukodystrophy (ALD) is an X-linked disease that affects primarily the white matter of the central nervous system and adrenal cortex. A correlation between genotypes and phenotypes has not been observed. Here, we present two Japanese siblings with a novel missense variant (c.1887T > G) in the ABCD1 gene who presented with different clinical phenotypes, i.e., adolescent cerebral and cerebello-brainstem types. We also review the literature focusing on the variation in the clinical phenotypes within ALD families. In our review, 61.9% of sibling pairs presented with the same clinical type of ALD and 59.1% of sibling pairs presented with a similar age of onset. Conversely, 15.4% of sibling pairs had a similar age of onset, but different clinical types of ALD. To observe the correlation between genotypes and phenotypes, it is important to diagnose early and to accumulate reports describing age of onset, first onset symptom, and progression of the symptom. - 診断に苦慮した、高齢発症で家族歴の明らかではない遺伝性トランスサイレチン型アミロイドポリニューロパチーの2例
野村 太一, 松島 理明, 大嶌 祐貴, 芳野 正修, 水島 慶一, 江口 克紀, 脇田 雅大, 白井 慎一, 岩田 育子, 甲谷 太郎, 今本 鉄平, 岡田 宏美, 矢部 一郎, 佐々木 秀直
末梢神経, 31, 2, 381, 381, 日本末梢神経学会, 2020年12月
日本語 - パーキンソン病における両側STN-DBS後の体重増加と刺激位置との関連についての検討
江口 克紀, 白井 慎一, 山崎 和義, 濱内 祝嗣, 松島 理明, 加納 崇裕, 笹森 徹, 平田 健司, 関 俊隆, 志賀 哲, 大槻 美佳, 寳金 清博, 佐々木 秀直, 矢部 一郎
日本定位・機能神経外科学会プログラム・抄録集, 60回, 97, 97, (一社)日本定位・機能神経外科学会, 2020年12月
日本語 - 脊髄小脳変性症の病型ごとの時間的統合の限界
徳重 真一, 松田 俊一, 他田 正義, 矢部 一郎, 武田 篤, 田中 洋康, 畠中 めぐみ, 榎本 博之, 小林 俊輔, 清水 和敬, 清水 崇宏, 花島 律子, 辻 省次, 宇川 義一, 寺尾 安生
臨床神経学, 60, Suppl., S382, S382, (一社)日本神経学会, 2020年11月
日本語 - Becker型筋ジストロフィーの保因者診断に関する検討
柴田 有花, 松島 理明, 加藤 ももこ, 矢部 一郎
臨床神経学, 60, Suppl., S529, S529, (一社)日本神経学会, 2020年11月
日本語 - 脊髄性筋萎縮症の出生前診断についての検討
加藤 ももこ, 松島 理明, 河口 哲, 柴田 有花, 矢部 一郎
臨床神経学, 60, Suppl., S529, S529, (一社)日本神経学会, 2020年11月
日本語 - [Two elderly cases of transthyretin amyloid polyneuropathy without a family history].
Taichi Nomura, Yuki Oshima, Masanao Yoshino, Masaaki Matsushima, Ichiro Yabe, Hidenao Sasaki
Rinsho shinkeigaku = Clinical neurology, 60, 10, 688, 692, 2020年10月24日, [国内誌]
日本語, 研究論文(学術雑誌), We report two cases of transthyretin familial amyloid polyneuropathy (ATTR-FAP) from non-endemic areas. Both cases showed chronic progressive distal limb numbness and weakness. Due to nonspecific symptoms, they were not diagnosed for a long period of time. A nerve conduction study revealed axonal neuropathy in the lower limbs and carpal tunnel syndrome. An echo test showed thickness of the left ventricle, one of the red flag symptom clusters of ATTR-FAP. Genetic analysis revealed a mutation in the transthyretin gene. In cases with chronic progressive neuropathy, it is important to consider a differential diagnosis of ATTR-FAP. - 複合免疫不全症の診断を契機に進行性多巣性白質脳症が判明した若年女性の1例
岩見 昂亮, 松島 理明, 長井 梓, 白井 慎一, 中久保 祥, 岩田 育子, 山田 雅文, 矢部 一郎
神経治療学, 37, 6, S245, S245, (一社)日本神経治療学会, 2020年10月
日本語 - パーキンソン病に対する深部脳刺激療法後の脳波β位相-広域γ振幅カップリングの変化に関する検討
江口 克紀, 矢部 一郎, 白井 慎一, 山崎 和義, 濱内 祝嗣, 松島 理明, 加納 崇裕, 笹森 徹, 関 俊隆, 大槻 美佳, 寳金 清博, 佐々木 秀直
臨床神経生理学, 48, 5, 507, 507, (一社)日本臨床神経生理学会, 2020年10月
日本語 - パーキンソン病に対する深部脳刺激療法後の脳波β位相-広域γ振幅カップリングの変化に関する検討
江口 克紀, 矢部 一郎, 白井 慎一, 山崎 和義, 濱内 祝嗣, 松島 理明, 加納 崇裕, 笹森 徹, 関 俊隆, 大槻 美佳, 寳金 清博, 佐々木 秀直
臨床神経生理学, 48, 5, 534, 534, (一社)日本臨床神経生理学会, 2020年10月
日本語 - 出生前診断における均衡型転座
柴田 有花, 川目 裕, 矢部 一郎
日本遺伝カウンセリング学会誌, 41, 3, 91, 96, (一社)日本遺伝カウンセリング学会, 2020年09月
日本語, 均衡型相互転座は一般集団の400人に1人の割合で発生し、表現型が正常な個人であっても次世代に不均衡型の配偶子を伝える可能性があることから、不妊や習慣流産、また不均衡型の核型を有する児の出生と関連する。また、均衡型転座ではG-bandでは確認できない微細欠失等が生じることで、表現型に異常をきたすことがある。出生前診断における均衡型転座の取り扱いにおいては、偶発的所見として発見されること、表現型が確実に予測できないこと、将来に課題が残ること、両親の保因者診断としての検査が考慮されること等、多くの課題が存在するため、遺伝カウンセリングを担当する医療者がジレンマを抱える場面がある。今回、胎児後頸部透亮像(nuchal translucency:NT)の肥厚を契機に羊水染色体検査を実施した結果、偶発的に胎児の均衡型転座が発見された症例をもとに、ジレンマへの対応を考察する。(著者抄録) - Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.
Hideyuki Hayashi, Shigeki Tanishima, Kyoko Fujii, Ryo Mori, Chihiro Okada, Emmy Yanagita, Yuka Shibata, Ryosuke Matsuoka, Toraji Amano, Takahiro Yamada, Ichiro Yabe, Ichiro Kinoshita, Yoshito Komatsu, Hirotoshi Dosaka-Akita, Hiroshi Nishihara
Cancer science, 111, 10, 3926, 3937, 2020年08月08日, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), Precision medicine is a promising strategy for cancer treatment. In this study, we developed an in-house clinical sequencing system to perform a comprehensive cancer genomic profiling test as a clinical examination and analyzed the utility of this system. Genomic DNA was extracted from tumor tissues and peripheral blood cells collected from 161 patients with different stages and types of cancer. A comprehensive targeted amplicon exome sequencing for 160 cancer-related genes was performed using next-generation sequencing (NGS). The sequencing data were analyzed using an original bioinformatics pipeline, and multiple cancer-specific gene alterations were identified. The success rate of our test was 99% (160/161), while re-biopsy was required for 24% (39/161) of the cases. Potentially actionable and actionable gene alterations were detected in 91% (145/160) and 46% (73/160) of the patients, respectively. The actionable gene alterations were frequently detected in PIK3CA (9%), ERBB2 (8%), and EGFR (4%). High tumor mutation burden (TMB) (≥10 mut/Mb) was observed in 12% (19/160) of the patients. The secondary findings in germline variants considered to be associated with hereditary tumors were detected in 9% (15/160) of the patients. Seventeen patients (11%, 17/160) were treated with genotype-matched therapeutic agents, and the response rate was 47% (8/17). The median turnaround time for physicians was 20 days, and the median survival time after the initial visit was 8.7 months. The results of the present study prove the feasibility of implementing in-house clinical sequencing as a promising laboratory examination technique for precision cancer medicine. - [A case of tibial nerve palsy due to intraneural ganglion cysts].
Katsuki Eguchi, Shinichi Shirai, Ikuko Iwata, Masaaki Matsushima, Ichiro Yabe
Rinsho shinkeigaku = Clinical neurology, 60, 8, 549, 553, 2020年08月07日, [国内誌]
日本語, 研究論文(学術雑誌), A 39-year-old man presented with an 8-month history of pain and paresthesia of the right foot sole and difficulty in the right toe dorsiflexion. A neurological examination revealed weakness in performing both the ankle and right foot toe dorsiflexion, reduced right planta pedis sensation, and absent right Achilles tendon reflex. Tinel's sign was present on the right popliteal fossa and medial part of the right ankle. MRI of the right knee showed multiple cystic lesions in his right tibial nerve. The cystic lesions extended from the popliteal fossa and were thought to be intraneural ganglion cysts. On MRI performed 4 months later, most of the cystic lesions spontaneously vanished. Therefore, intraneural ganglia should be considered when atypical mononeuropathy, such as tibial nerve palsy, is present. - 関節拘縮が軽微であり,2度の冠動脈塞栓症が診断の契機となったEmery-Dreifuss型筋ジストロフィーの1例
藤井信太朗, 江口克紀, 佐藤智香, 斎藤良彦, Ari Luh Indrawati, 白井慎一, 西野一三, 矢部一郎
臨床神経学, 60, 8, 554, 559, 日本神経学会, 2020年08月07日, [査読有り], [責任著者], [国内誌]
日本語, 研究論文(学術雑誌),症例は42歳,男性.2度の冠動脈塞栓症の既往があり,筋疾患の精査目的に当科紹介となった.40歳頃から筋力低下を自覚し,肩甲周囲,上腕,下腿の筋萎縮を認めた.筋生検標本の免疫染色でエメリン蛋白の完全欠損を認め,遺伝子検査でemerin(EMD)遺伝子に病原性変異を確認しEmery-Dreifuss型筋ジストロフィー(Emery-Dreifuss muscular dystrophy; EDMD)と診断した.EDMDは発症早期の関節拘縮,肩甲上腕下腿型の筋萎縮,心機能障害を3徴とする.本症例では明らかな関節拘縮を認めなかったが,経過や臨床症状は症例により様々であり,早期診断することで心臓突然死を防ぎ得る.臨床診断に難渋した場合は当疾患も念頭に置き筋生検,遺伝子検査を行う必要がある.
- 神経内ガングリオンと考えられた神経内多発嚢胞性病変による脛骨神経麻痺
江口克紀, 白井慎一, 岩田育子, 松島理明, 矢部一郎
臨床神経学, 60, 8, 549, 553, (一社)日本神経学会, 2020年08月, [査読有り], [最終著者]
日本語, 症例は39歳男性.右足底のしびれで発症し,徐々に感覚障害が悪化するとともに足趾の屈曲が困難になった.発症8か月後に当科を受診した.右下腿の脛骨神経支配筋の筋力低下,右アキレス腱反射低下,足底の表在覚低下があり,右膝窩および足根管部でチネルサインを認めた.MRIにて,右膝関節から連続し脛骨神経内に侵入する多発嚢胞性病変を認め,画像所見から神経内ガングリオンと考えられた.非典型的な末梢神経障害の症例ではチネルサインや腫瘤触知の有無を触診・打診にて確認し,神経内ガングリオンを考慮してMRIなどの画像検査を行うべきである.(著者抄録) - 免疫療法が奏功した小細胞肺癌合併抗CV2/CRMP5抗体陽性脊髄症の1例
佐藤智香, 加納崇裕, 矢部一郎, 佐々木秀直
臨床神経学, 60, 8, 560, 564, 2020年08月, [査読有り] - Risk factors for lymph node metastasis of ovarian, fallopian tube and primary peritoneal cancer in hereditary breast and ovarian cancer syndrome
Takashi Mitamura, Masayuki Sekine, Masami Arai, Yuka Shibata, Momoko Kato, Shiro Yokoyama, Hiroko Yamashita, Hidemichi Watari, Ichiro Yabe, Hiroyuki Nomura, Takayuki Enomoto, Seigo Nakamura
Japanese Journal of Clinical Oncology, 50, 12, 1380, 1385, Oxford University Press (OUP), 2020年07月17日, [査読有り], [国際誌]
英語, 研究論文(学術雑誌),Abstract
Background
To establish an individualized surgical strategy for lymphadenectomy in ovarian cancer patients with the germline BRCA1 and BRCA2 pathogenic variants (BRCA1+ and BRCA2+), we investigated the clinicopathological characteristics that are involved in the increased risk of lymph node metastasis.
Methods
We retrospectively reviewed the data of Japanese women registered in the database of the Japanese Hereditary Breast and Ovarian Cancer Consortium, who underwent BRCA1 and BRCA2 genetic testing.
Results
We evaluated the predictors of lymph node metastasis in all patients with the information of age at the diagnosis, disease site, histological subtype, 2014 FIGO stage, personal breast cancer history and family history; 233, 153 and 32 patients in the BRCA− (no pathogenic variant), BRCA1+ and BRCA2+ groups, respectively. The prevalence of lymph node metastasis was not markedly different between BRCA− (20.0%), BRCA1+ (18.4%) and BRCA2+ (26.2%). Multivariate analysis revealed an absence of a family history of ovarian cancer as an independent predictor for an increased risk of lymph node metastasis in BRCA1+, and the prevalence of lymph node metastasis was 11.7 and 42.0% in the groups with and without a family history of ovarian cancer, respectively. This subgroup without a family history of ovarian cancer did not show any correlation with a particular variant of BRCA1, including two common variants of c.188 T > A and c.2800C > T.
Conclusions
This study suggested that certain genetic factors related to the penetrance of hereditary breast and ovarian cancer syndrome altered the frequency of lymph node metastasis in BRCA1+ ovarian cancer, and family history may be useful to personalize the indication of lymphadenectomy.
- 非集積地の遺伝性トランスサイレチン型アミロイドーシスにおける治療選択と家族への影響
松島 理明, 柴田 有花, 加藤 ももこ, 矢部 一郎
日本遺伝カウンセリング学会誌, 41, 2, 62, 62, 日本遺伝カウンセリング学会, 2020年06月
日本語 - 臨床像が異なる副腎白質ジストロフィーの同胞をもつ女性に対する保因者診断の経験
柴田 有花, 松島 理明, 加藤 ももこ, 松川 敬志, 石浦 浩之, 辻 省次, 矢部 一郎
日本遺伝カウンセリング学会誌, 41, 2, 62, 62, 日本遺伝カウンセリング学会, 2020年06月
日本語 - がん遺伝子パネル検査の二次的所見の開示希望に関わる因子の検討 北海道大学での症例をもとに
吉岡 正博, 山田 崇弘, 柴田 有香, 近藤 知大, 林 秀幸, 西原 広史, 矢部 一郎, 秋田 弘俊, 武藤 学, 木下 一郎, 小杉 真司
日本遺伝カウンセリング学会誌, 41, 2, 75, 75, 日本遺伝カウンセリング学会, 2020年06月
日本語 - Cerebellar rotation abnormalities observed in Machado-Joseph Disease
Nomura T, Iwata I, Harada T, Yabe I, corresponding author
Intern Med, 59, 3253, 3254, 2020年06月, [査読有り] - 【Best Articles of the Year】多系統萎縮症およびパーキンソン病における血漿中microRNA発現量変化の検討
上床 尚, 濱 結香, 高橋-岩田育子, 白井慎一, 松島理明, 矢部一郎, 内海 潤, 佐々木秀直
北海道医学雑誌, 95, 1, 32, 2020年05月, [査読有り] - Familial chilblain lupus with TREX1 mutation and cerebrovascular disease
Nohara T, Yanagi T, Yabe I, Ota N, Kanazawa N, Ujiie H, Kosumi H, Mai Y, Shimizu H
Lancet Rheumatology, 2, E724, 2020年03月, [査読有り] - Effect of rovatirelin in patients with cerebellar ataxia: two randomised double-blind placebo-controlled phase 3 trials.
Masatoyo Nishizawa, Osamu Onodera, Akihiro Hirakawa, Yoshitaka Shimizu, Masayuki Yamada
Journal of neurology, neurosurgery, and psychiatry, 91, 3, 254, 262, BMJ, 2020年03月, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), OBJECTIVE: To investigate the efficacy of rovatirelin, a thyrotropin-releasing hormone analogue, for ataxias in patients with spinocerebellar degeneration (SCD). METHODS: Two multicentre, randomised, double-blind, placebo-controlled phase 3 studies (KPS1301, KPS1305) enrolled patients with predominant cerebellar ataxia, including SCA6, SCA31 or cortical cerebellar atrophy. KPS1301 enrolled patients with truncal ataxia and KPS1305 enrolled patients with truncal and limb ataxia. Each study included 4 weeks of pretreatment, a 28-week or 24-week treatment period and 4 weeks of follow-up. Patients were randomised (1:1:1) to rovatirelin (1.6 or 2.4 mg) or placebo in KPS1301, and randomised (1:1) to rovatirelin 2.4 mg or placebo in KPS1305. The primary endpoint was change in Scale for the Assessment and Rating of Ataxia (SARA) total scores. Pooled analysis was performed in patients who met the SARA recruitment criteria of KPS1305. RESULTS: From October 2013 to May 2014, KPS1301 enrolled 411 patients; 374 were randomised to rovatirelin 1.6 mg (n=125), rovatirelin 2.4 mg (n=126) or placebo (n=123). From November 2016 to August 2017, KPS1305 enrolled 241 patients; 203 were randomised to rovatirelin 2.4 mg (n=101) or placebo (n=102). The primary endpoint showed no significant difference between rovatirelin and placebo in these two studies. In the pooled analysis (n=278), the difference between rovatirelin 2.4 mg (n=140) and placebo (n=138) was -0.61 (-1.64 vs -1.03; 95% CI -1.16 to -0.06; p=0.029) in the adjusted mean change in the SARA total score. CONCLUSIONS: Rovatirelin is a potentially effective treatment option for SCD. TRIAL REGISTRATION NUMBER: NCT01970098; NCT02889302. - Constant current stimulation may improve apraxia of eyelid opening induced by deep brain stimulation
Eguchi K, Yabe I, Shirai S, Iwata I, Matsushima M, Yamazaki K, Hamauchi S, Sasamori T, Seki T, Houkin K, Sasaki H
Interdisciplinary Neurosurgery, 19, 100565, 100565, 2020年03月, [査読有り]
英語, 研究論文(学術雑誌) - MM2 cortical form of sporadic Creutzfeldt-Jakob disease without progressive dementia and akinetic mutism: A case deviating from current diagnostic criteria.
Ikuko Takahashi-Iwata, Ichiro Yabe, Akihiko Kudo, Katsuya Eguchi, Masahiro Wakita, Shinichi Shirai, Masaaki Matsushima, Takanobu Toyoshima, Susumu Chiba, Satoshi Tanikawa, Shinya Tanaka, Katsuya Satoh, Tetsuyuki Kitamoto, Hidenao Sasaki
Journal of the neurological sciences, 412, 116759, 116759, 2020年02月24日, [査読有り], [国際誌]
英語 - 小脳型多系統萎縮症におけるプロトン密度強調画像を用いた小脳の信号強度の検討
山口 晃典, 原田 太以佑, 工藤 與亮, 松島 理明, 矢部 一郎, 佐々木 秀直
Japanese Journal of Radiology, 38, Suppl., 1, 1, (公社)日本医学放射線学会, 2020年02月
日本語 - Neurovascular changes in magnetic resonance imagining and single-photon emission computed tomography during migraine attack in patients with FHM2 mutations
Nagai A, Tanaka D, Kuroshima K, Ura S, Yoshida K, Takahashi Y, Yabe I
Cephalagia Reports, 3, 1, 4, 2020年02月, [査読有り], [最終著者] - Incidence of anti-NMDAR encephalitis in patients undergoing resection of ovarian teratoma in a single institution
Hiroaki Yaguchi, Takahiro Tsuji, Ichiro Yabe, Emi Hirayama, Taichi Nomura, Ikkei Ohashi, Yasunori Mito, Keiko Tanaka, Yasutaka Tajima
Journal of the Neurological Sciences, 409, 116608, 116608, Elsevier BV, 2020年02月, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), OBJECTIVE: The objective of this study was to determine the incidence of anti-NMDAR encephalitis in patients in whom a teratoma was removed. As far as we know, there has been no report on the incidence of anti-NMDAR encephalitis in patients in whom a teratoma was removed. METHODS: This study was a single-institutional observational study. We enrolled patients who were diagnosed with teratoma in the Department of Pathology, Sapporo City General Hospital during a nine-year period between January 2008 and December 2016. RESULTS: In Sapporo City General Hospital, 6 NMDAR encephalitis cases were detected during the 9-year period. In the same 9-year period, a pathological diagnosis of teratoma was made in 343 cases in the hospital. Anti-NMDAR encephalitis patients with a teratoma accounted for only 1.17% of all teratoma patients. Three of the 4 anti-NMDAR encephalitis patients with a teratoma underwent second removal of a teratoma, and no nervous tissue was detected pathologically. CONCLUSIONS: In this study, we determined the association between teratoma with anti-NMDAR encephalitis and teratoma without anti-NMDAR encephalitis in cases in a single institution. As far as we know, this report is the first report on the incidence of anti-NMDAR encephalitis in teratoma patients. - A case of paraneoplastic myelopathy associated with anti-CV2/CRMP5 antibodies with small-cell lung cancer
Chika Sato, Takahiro Kano, Ichiro Yabe, Hidenao Sasaki
Clinical Neurology, 60, 8, 560, 564, Societas Neurologica Japonica, 2020年
日本語, 研究論文(学術雑誌), A 66-year-old woman with small-cell lung cancer and cancer-associated retinopathy with anti-recoverin antibodies presented with subacute paraplegia associated with recurrence of lung cancer. Although a spinal cord MRI did not show any visible lesion, the neurological symptoms and cerebrospinal fluid findings indicated myelitis. Anti-CV2/CRMP5 antibodies were also positive and the patient was diagnosed with paraneoplastic myelopathy. After medication with prednisolone, her neurological symptoms improved and she survived over three years without recurrence of neurological symptoms. In general, paraneoplastic myelopathy is refractory against immunotherapy but in this case, immunotherapy was successful and resulted in long-term survival. We recommend examining anti-neuronal antibodies and choose and continue the appropriate immunotherapy. - MM2 cortical form of sporadic Creutzfeldt-Jakob disease without progressive dementia and akinetic mutism: A case deviating from current diagnostic criteria
Takahashi-Iwata I, Yabe I, corresponding author, Kudo A, Eguchi K, Wakita M, Shirai S, Matsushima M, Toyoshima T, Chiba S, Tanikawa S, Tanaka S, Satoh K, Kitamoto T, Sasaki H
J Neurol Sci, 412, 116759, 2020年 - 高齢発症で家族歴がなく、診断に時間を要した家族性アミロイドポリニューロパチーの2例
野村 太一, 大嶌 祐貴, 芳野 正修, 水島 慶一, 江口 克紀, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎, 佐々木 秀直
臨床神経学, 60, 1, 93, 93, (一社)日本神経学会, 2020年01月
日本語 - 脊髄性筋萎縮症3型成人例へのヌシネルセン投与経験
岩見 昂亮, 芳野 正修, 水島 慶一, 大嶌 祐貴, 江口 克紀, 脇田 雅大, 佐藤 智香, 長沼 亮滋, 白井 慎一, 岩田 育子, 松島 理明, 相馬 広幸, 矢部 一郎, 佐々木 秀直
臨床神経学, 60, 1, 95, 95, (一社)日本神経学会, 2020年01月
日本語 - 脊髄空洞症.難病研究の進歩
矢部一郎
生体の科学, 71, 424, 425, 2020年
日本語 - Frequency of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis of the removal teratoma patients from a single institution.
Yaguchi H, Tsuji T, Yabe I, Hirayama K, Tanaka K, Mito Y, Tajima Y
J Neurol Sci, 409, 11608, 2020年
英語 - Clinical factors affecting evoked magnetic fields in patients with Parkinson's disease
Naganuma R, Yabe I (corresponding author, Takeuchi M, Morishita K, Nakane S, Takase R, Takahashi-Iwata I, Matsushima M, Otsuki M, Shiraishi H, Sasaki H
PLoS One, 15, 9, e0232808, 2020年, [国際誌]
英語, 研究論文(学術雑誌), Studies on evoked responses in Parkinson's disease (PD) may be useful for elucidating the etiology and quantitative evaluation of PD. However, in previous studies, the association between evoked responses and detailed motor symptoms or cognitive functions has not been clear. This study investigated the characteristics of the visual (VEF), auditory (AEF), and somatosensory (SEF) evoked magnetic fields in patients with Parkinson's disease (PD), and the correlations between evoked fields and the patient's clinical characteristics, motor symptoms, and cognitive functions. Twenty patients with PD and 10 healthy controls (HCs) were recruited as participants. We recorded VEF, AEF, and SEF, collected clinical characteristics, performed physical examinations, and administered 10 cognitive tests. We investigated differences in the latencies of the evoked fields between patients with PD and HCs. We also evaluated the correlation of the latencies with motor symptoms and cognitive functioning. There were significant differences between the two groups in 6 of the cognitive tests, all of which suggested mild cognitive impairment in patients with PD. The latencies of the VEF N75m, P100m, N145m, AEF P50m, P100m, and SEF P60m components were greater in the patients with PD than in the HCs. The latencies mainly correlated with medication and motor symptoms, less so with cognitive tests, with some elements of the correlations remaining significant after Bonferroni correction. In conclusion, the latencies of the VEF, AEF, and SEF were greater in PD patients than in HCs and were mainly correlated with medication and motor symptoms rather than cognitive functioning. Findings from this study suggest that evoked fields may reflect basal ganglia functioning and are candidates for assessing motor symptoms or the therapeutic effects of medication in patients with PD. - A retrospective epidemiological study of tick-borne encephalitis virus in patients with neurological disorders in Hokkaido, Japan.
Yoshii K, Takahashi-Iwata I, Shirai S, Kobayashi S, Yabe I, Sasaki H
Microorganisms, 8, e1672, 2020年
英語 - Cardiac Involvement with Anti-mitochondrial Antibody-Positive Myositis Mimicking Cardiac Sarcoidosis
Kadosaka T, Tsujinaga S, Iwano H, Kamiya K, Nagai A, Mizuguchi Y, Motoi K, Omote K, Nagai T, Yabe I, Anzai T
ESC Heart Fail, 7, 4315, 4319, 2020年, [国際誌]
英語, Anti-mitochondrial antibody (AMA)-positive myositis is an atypical inflammatory myopathy characterized by chronic progressive respiratory muscle weakness, muscular atrophy, and cardiac involvement. Arrhythmias, cardiomyopathy, and myocarditis have been reported as cardiac manifestations. Herein, we present the first report of a patient diagnosed with having AMA-positive myositis with cardiac involvement mimicking cardiac sarcoidosis. - A patient with spastic paralysis finally diagnosed as V180I genetic Creutzfeldt-Jakob disease 9 years after onset
Nomura T, Iwata I, Naganuma R, Matsushima M, Satoh K, Kitamoto T, Yabe I, corresponding author
Prion, 14, 1, 226, 231, 2020年, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), Genetic Creutzfeldt-Jakob disease (gCJD) with a mutation in codon 180 of the prion protein gene (V180I gCJD) is the most common form of gCJD in Japan, but only a few cases have been reported in Europe and the United States. It is clinically characterized by occurring in the elderly and presenting as slowly progressive dementia, although it generally shows less cerebellar and pyramidal symptoms than sporadic CJD. Here, we report a patient with V180I gCJD who initially presented with slowly progressive spastic paralysis with neither cerebrospinal fluid (CSF) nor magnetic resonance imaging (MRI) abnormalities. His symptoms progressed gradually, and after 9 years, he displayed features more typical of CJD. Diffusion-weighted MRI revealed high-intensity signals in the cortical gyrus, and there was a marked increase of 14-3-3 protein and total tau protein in the CSF, but he was negative for the real-time quaking-induced conversion assay. Although the time course was more consistent with Gerstmann-Sträussler-Scheinker disease than CJD, genetic testing revealed V180I gCJD. This is the first report of a patient with V180I gCJD who initially presented with spastic paralysis, and also the first to reveal that it took 9 years from disease onset for cortical dysfunction to develop and for MRI and CSF abnormalities to be detectable. In conclusion, we should screen for V180I gCJD in elderly patients presenting with slowly progressive spastic paralysis. - 高齢発症で家族歴の明らかではない遺伝性トランスサイレチン型アミロイドポリニューロパチーの2例
野村太一, 大嶌祐貴, 芳野正修, 松島理明, 矢部一郎, 佐々木秀直
臨床神経学, 60, 10, 688, 692, 2020年, [査読有り] - 歯状核赤核淡蒼球ルイ体萎縮症の不随意運動; Chorea, athetosis, dystonia, dyskinesia
白井慎一, 矢部一郎
脳神経内科, 92, 1, 12, 17, 2020年, [査読有り]
日本語 - 頸部リンパ節転移巣のがん遺伝子パネル検査によりBRCA1生殖細胞変異が見つかった再発乳癌の1例
高桑佑佳,鈴木はる菜,萩尾加奈子,押野智博,守谷結美,天野虎次,柴田有花,矢部一郎,秋田弘俊,山下啓子
北海道外科雑誌, 64, 2, 43, 46, 2020年, [査読有り] - Emery-Dreifuss型筋ジストロフィー(EDMD)の1例
藤井 信太朗, 岩見 昴亮, 野村 太一, 高橋 俊樹, 長井 梓, 江口 克紀, 脇田 雅大, 佐藤 智香, 長沼 亮滋, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎, 藤田 篤史, 西野 一三
臨床神経学, 60, 1, 92, 92, (一社)日本神経学会, 2020年01月, [査読有り]
日本語 - 【さまざまな神経筋疾患を理解する】脊髄小脳変性症
松島 理明, 矢部 一郎
ディサースリア臨床研究, 9, 1, 83, 90, 日本ディサースリア臨床研究会, 2019年12月
日本語, 脊髄小脳変性症(SCD)は小脳性運動失調を主症状とする進行性神経変性疾患で,1/3は遺伝性,2/3は非遺伝性である.遺伝性のうちの多くは常染色体優性遺伝性であり,非遺伝性の多くは多系統萎縮症(MSA)に該当する.この他に二次性運動失調症もあるため,鑑別が必要である.SCDは病型によって運動失調症状に加えてさまざまな症状がみられる.MSAでは起立性低血圧などの自律神経障害が目立つほか,パーキンソン症状も合併し得る.SCDの診断に脳MRIなど画像診断は有用だが,診断確定のために遺伝学的検査や除外診断を要する.現時点でSCDの根治療法はなく,対症療法,リハビリテーションでの対応となる.将来的には遺伝子治療などの新たな治療法が期待される.(著者抄録) - 脊髄小脳変性症
松島理明, 矢部一郎
ディサースリア臨床研究, 9, 1, 83, 90, 日本ディサースリア臨床研究会, 2019年12月, [最終著者]
日本語, 脊髄小脳変性症(SCD)は小脳性運動失調を主症状とする進行性神経変性疾患で,1/3は遺伝性,2/3は非遺伝性である.遺伝性のうちの多くは常染色体優性遺伝性であり,非遺伝性の多くは多系統萎縮症(MSA)に該当する.この他に二次性運動失調症もあるため,鑑別が必要である.SCDは病型によって運動失調症状に加えてさまざまな症状がみられる.MSAでは起立性低血圧などの自律神経障害が目立つほか,パーキンソン症状も合併し得る.SCDの診断に脳MRIなど画像診断は有用だが,診断確定のために遺伝学的検査や除外診断を要する.現時点でSCDの根治療法はなく,対症療法,リハビリテーションでの対応となる.将来的には遺伝子治療などの新たな治療法が期待される.(著者抄録) - 本邦のLEMSを合併する傍腫瘍性小脳変性症の臨床的特徴
北之園 寛子, 本村 政勝, 中岡 賢治朗, 金本 正, 太田 理絵, 島 智秋, 長岡 篤志, 吉村 俊祐, 宮崎 禎一郎, 白石 裕一, 立石 洋平, 入岡 隆, 矢部 一郎, 佐藤 聡, 辻畑 光宏, 辻野 彰
臨床神経学, 59, Suppl., S278, S278, (一社)日本神経学会, 2019年11月
日本語 - パーキンソン病患者における聴覚誘発脳磁場の検討
長沼 亮滋, 竹内 恵, 森下 きらり, 中根 進児, 高橋 育子, 松島 理明, 大槻 美佳, 白石 秀明, 矢部 一郎, 佐々木 秀直
臨床神経学, 59, Suppl., S366, S366, (一社)日本神経学会, 2019年11月
日本語 - 同一家系内にあっても遺伝カウンセリングのニーズは多様である
柴田 有花, 矢部 一郎, 松島 理明, 橋本 直樹, 佐々木 秀直
臨床神経学, 59, Suppl., S458, S458, (一社)日本神経学会, 2019年11月
日本語 - 両側大脳半球に病変を呈したRasmussen脳炎の1例
岩見 昂亮, 水島 慶一, 工藤 彰彦, 高橋 育子, 大嶌 祐貴, 芳野 正修, 江口 克紀, 脇田 雅大, 白井 慎一, 松島 理明, 山口 秀, 越前谷 すみれ, 後藤 秀輔, 桑原 健, 高桑 恵美, 武井 英博, 矢部 一郎, 佐々木 秀直
臨床神経学, 59, Suppl., S468, S468, (一社)日本神経学会, 2019年11月
日本語 - 【Best Articles of the Year】脊髄小脳変性症初期における3軸加速度計による定量的歩行解析はthe Scale for the Assessment and Rating of Ataxia (SARA)による評価よりも鋭敏である
白井慎一, 矢部一郎, 高橋-岩田育子, 松島理明, 伊藤陽一, 高草木薫, 佐々木秀直
北海道医学雑誌, 94, 2, 107, 2019年11月, [査読有り] - 本邦のLEMSを合併する傍腫瘍性小脳変性症の臨床的特徴
北之園 寛子, 本村 政勝, 中岡 賢治朗, 金本 正, 太田 理絵, 島 智秋, 長岡 篤志, 吉村 俊祐, 宮崎 禎一郎, 白石 裕一, 立石 洋平, 入岡 隆, 矢部 一郎, 佐藤 聡, 辻畑 光宏, 辻野 彰
臨床神経学, 59, Suppl., S278, S278, (一社)日本神経学会, 2019年11月, [査読有り]
日本語 - ステロイド、免疫グロブリン静注療法が著効したシェーグレン症候群に伴う自己免疫性自律神経節障害の1例
江口 克紀, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎, 佐々木 秀直
神経治療学, 36, 6, S275, S275, (一社)日本神経治療学会, 2019年10月
日本語 - MRI構造画像と磁化率画像に基づくアルツハイマー病の診断指標
佐藤 良太, 工藤 與亮, 河田 康雄, 宇土 仁木, 松島 理明, 矢部 一郎, 山口 晃典, 尾藤 良孝, 越智 久晃, 白猪 亨
Dementia Japan, 33, 4, 553, 553, (一社)日本認知症学会, 2019年10月
日本語 - PSP、TDP43病理を認めた非流暢/失文法型原発性進行性失語(naPPA)
大槻 美佳, 谷川 聖, 上床 尚, 矢部 一郎, 水戸 泰紀, 新保 和賢, 緒方 昭彦, 中川 賀嗣, 田中 伸哉
日本神経心理学会総会プログラム・予稿集, 43回, 62, 62, 日本神経心理学会, 2019年07月
日本語 - Investigating the role of genetic counseling in neuromuscular disease considering life events.
Shibata Y, Yabe I, Matsushima M, Hashimoto N, Yamada T, Sasaki H
J Hum Genet, 64, 6, 551, 559, 2019年06月, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), Genetic diagnoses are becoming a routine in the medical practice of neuromuscular diseases. Many diagnoses, however, can have an influence on relatives and family members and thus must be handled carefully by genetic counseling (GC). Here, we aimed to assess the purpose of undergoing GC to verify the utility of collaborations between clinical and genetic divisions. We investigated consecutive GC cases of neuromuscular disease and examined the role of GC. Our study included 102 cases who underwent GC in our hospital from July 2005 to March 2018: 86.3% were women and 45.1% were in their 30's. Disease explanation was the most common reason for attending GC (29.4%), followed by prenatal diagnosis (25.5%), pre-symptomatic diagnosis (17.6%), and carrier diagnosis (14.7%). Clients typically visited the hospital for GC when some kind of life event occurred, such as marriage, had a desire to bear a child, or a change in the condition of the proband. Clinicians should be conscious of such life events from the perspective of both the client and their relatives, and guide the GC at an appropriate time. Overall, the degree of recognition of genetic risk by clients differed; thus, it is important for GC to determine the status of each unique situation and respond individually. - Identification of plasma microRNA expression changes in multiple system atrophy and Parkinson’s disease.
Uwatoko H, Hama Y, Takahashi-Iwata I, Shirai S, Matsushima M, Yabe I, Utsumi J, Sasaki H
Mol. Brain, 12, 1, 49, 2019年05月, [査読有り]
英語, 研究論文(学術雑誌) - 多発脳神経麻痺を呈し副鼻腔真菌症を伴った肥厚性硬膜炎の1例
芳野 正修, 白井 慎一, 大嶌 祐貴, 水島 慶一, 江口 克紀, 脇田 雅大, 佐藤 雅大, 長沼 亮滋, 上床 尚, 高橋 育子, 松島 理明, 矢部 一郎, 佐々木 秀直
NEUROINFECTION, 24, 1, 75, 75, 日本神経感染症学会, 2019年04月
日本語 - Reversible splenial lesion in new-onset refractory status epilepticus: A case report
Eguchi K, Tsuzaka K, Yabe I, Sasaki H
Clin. Neurol. Neurosurg, 183, 105392, 105392, 2019年, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), A 33-year-old man developed a generalized tonic-clonic seizure after a week of fever and fatigue. Diffusion weighted and fluid attenuated inversion recovery magnetic resonance imaging showed a hyperintense lesion in the splenium of the corpus callosum, and the lesion disappeared within a few days. The patient developed refractory status epilepticus despite treatment with multiple antiepileptic drugs. After concurrent administration of high-dose methylprednisolone, intravenous immunoglobulin, intravenous anesthetics and antiepileptic drugs, the patient achieved complete suppression of seizures. To the best of our knowledge, this is the first case of a new-onset refractory status epilepticus with a reversible splenial lesion. - 脊髄空洞症;中枢神経障害による神経障害性疼痛 病態と治療
矢部一郎,関 俊隆
Clinical Neuroscience, 37, 11, 1324, 1327, 2019年, [査読有り], [筆頭著者]
日本語 - Genome-wide DNA methylation analysis of multiple system atrophy (MSA): a study of nuclear families and monozygotic twins discordant for MSA
Hama Y, Yabe I, Matsushima M, Takahashi I, Hisanaga K, Ogata A, Katsu M, Kato T, Utsumi J, Sasaki H
BMC Neurology, 2019年, [査読有り] - 日常診療で必要な遺伝学の基礎.遺伝医療・ゲノム医療.生涯教育シリーズXXII
矢部 一郎
北海道医報, 1204, 10, 12, 2019年, [査読有り]
日本語, 研究論文(学術雑誌) - The responsiveness of triaxial accelerometer measurement of gait ataxia is higher than that of the Scale for the Assessment and Rating of Ataxia in the early stages of spinocerebellar degeneration
Shirai S, Yabe I, Takahashi-Iwata I, Matsushima M, Ito YM, Takakusaki K, Sasaki H
Cerebellum, 18, 4, 721, 730, 2019年, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), We reported previously that the average medial-lateral gait amplitude while walking on a straight path determined using triaxial accelerometers fixed on the middle of the upper back may be a quantitative and concise indicator for the severity of cerebellar ataxia. Considering that gait ataxia is a typical initial symptom in a variety of spinocerebellar degeneration (SCD), we aimed to develop quantitative biomarkers for cerebellar ataxia as metric variables. We used triaxial accelerometers to analyze gait parameters in 14 patients with SCD at 3 points over 3 years (at baseline, 1.5 years and 3 years). Analysis of covariance (ANCOVA) models adjusted for the baseline scores were used to estimate sample sizes. The mean medial-lateral amplitude (ML) gained by a triaxial accelerometer fixed on upper back could detect the each 1.5-year change. In the 14 patients, the mean ML(m) was 0.032 ± 0.007(SD) at entry, 0.037 ± 0.008 after 1.5-year follow, and 0.042 ± 0.020 after 3-year follow. In contrast, SARA gait scores were 2.9, 2.9, and 3.0, respectively. The responsiveness of the quantitative evaluation of gait ataxia by triaxial accelerometers is higher than that of the SARA within a 1.5-year follow-up period. Gait analysis by triaxial accelerometers will be complementary to the evaluation of scales like SARA in the assessment of clinical severity of SCD patients in early stage. - 「大脳皮質基底核変性症(CBD)mimics」の背景病理 日本人を対象としたCBD検証研究(Background pathology of 'corticobasal degeneration(CBD) mimics': Japanese validation study of CBD)
下畑 享良, 饗場 郁子, 吉田 眞理, 豊島 靖子, 村山 繁雄, 内原 俊記, 新井 哲明, 齋藤 由扶子, 矢部 一郎, 長谷川 隆文, 齊藤 祐子, 瀧川 洋史, 長谷川 一子, 池内 健, 長谷川 成人, 小森 隆司, 若林 孝一, 徳丸 阿耶, 櫻井 圭太, 中島 健二, J-VAC study group
臨床神経学, 58, Suppl., S239, S239, (一社)日本神経学会, 2018年12月
英語 - Hashimoto’s encephalopathy mimicking a brain tumor and its pathological findings: A case report.
Uwatoko H, Yabe I, Sato S, Abe M, Shirai S, Takahashi I, Matsushima M, Kano T, Yamaguchi S, Hatanaka K, Yoneda M, Sasaki H
J Neurol Sci, 394, 141, 143, 2018年11月15日, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), Hashimoto's encephalopathy is characterized by the presence of anti-thyroid antibodies with no alternative cause. Patients with Hashimoto's encephalopathy present with various clinical symptoms and magnetic resonance imaging (MRI) findings. To our knowledge, this is the first documented report of Hashimoto's encephalopathy with MRI findings mimicking a brain tumor. The patient was a 41-year-old woman with a history of Hashimoto's disease. She experienced gradually worsening Parkinsonism and an MRI revealed a brain tumor-like lesion at the left caudate nucleus. She underwent a brain biopsy that revealed diffuse gliosis and perivascular lymphocyte infiltration with CD3+ T-cell predominance. No pathological signs of a brain tumor were found. Hashimoto's encephalopathy was suspected based on the patient's history and the presence of anti-thyroid antibodies. Her symptoms and the MRI findings improved with glucocorticoid treatment. Although there exist only a few studies on the pathology of Hashimoto's encephalopathy, our findings were consistent with those of previous reports. Our findings suggest cerebral vasculitis as an underlying etiology of Hashimoto's encephalopathy. We also emphasize the importance of considering Hashimoto's encephalopathy as a differential diagnosis of brain tumors. - Tremor during orthostatism as the initial symptom of Machado-Joseph disease.
Shirai S, Yabe I, Naganuma R, Sato C, Takahashi I, Matsushima M, Kano T, Sasaki H
Clin Neurol Neurosurg, 173, 173, 175, 2018年10月, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), A 60-year-old man was admitted to our hospital. He had mild tremor in his four extremities when supine or sitting, which was markedly exacerbated when standing. We diagnosed him with Machado-Joseph disease according to the genetic test. His tremor improved with clonazepam, trihexyphenidyl, and a rotigotine patch. - Safety and efficacy of eculizumab in Guillain-Barré syndrome: a multicentre, double-blind, randomised phase 2 trial.
Misawa S, Kuwabara S, Sato Y, Yamaguchi N, Nagashima K, Katayama K, Sekiguchi Y, Iwai Y, Amino H, Suichi T, Yokota T, Nishida Y, Kanouchi T, Kohara N, Kawamoto M, Ishii J, Kuwahara M, Suzuki H, Hirata K, Kokubun N, Masuda R, Kaneko J, Yabe I, Sasaki H, Kaida K, Takazaki H, Suzuki N, Suzuki S, Nodera H, Matsui N, Tsuji S, Koike H, Yamasaki R, Kusunoki S, for the Japanese Eculizumab Trial for GBS, JET-GBS, Study Group
Lancet Neurol, 17, 6, 519, 529, 2018年06月, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), BACKGROUND: Despite the introduction of plasmapheresis and immunoglobulin therapy, many patients with Guillain-Barré syndrome still have an incomplete recovery. Evidence from pathogenesis studies suggests the involvement of complement-mediated peripheral nerve damage. We aimed to investigate the safety and efficacy of eculizumab, a humanised monoclonal antibody against the complement protein C5, in patients with severe Guillain-Barré syndrome. METHODS: This study was a 24 week, multicentre, double-blind, placebo-controlled, randomised phase 2 trial done at 13 hospitals in Japan. Eligible patients with Guillain-Barré syndrome were aged 18 years or older and could not walk independently (Guillain-Barré syndrome functional grade 3-5). Patients were randomly assigned (2:1) to receive 4 weeks of intravenous immunoglobulin plus either eculizumab (900 mg) or placebo; randomisation was done via a computer-generated process and web response system with minimisation for functional grade and age. The study had a parallel non-comparative single-arm outcome measure. The primary outcomes were efficacy (the proportion of patients with restored ability to walk independently [functional grade ≤2] at week 4) in the eculizumab group and safety in the full analysis set. For the efficacy endpoint, we predefined a response rate threshold of the lower 90% CI boundary exceeding 50%. This trial is registered with ClinicalTrials.gov, number, NCT02493725. FINDINGS: Between Aug 10, 2015, and April 21, 2016, 34 patients were assigned to receive either eculizumab (n=23) or placebo (n=11). At week 4, the proportion of the patients able to walk independently (functional grade ≤2) was 61% (90% CI 42-78; n=14) in the eculizumab group, and 45% (20-73; n=5) in the placebo group. Adverse events occurred in all 34 patients. Three patients had serious adverse events: two in the eculizumab group (anaphylaxis in one patient and intracranial haemorrhage and abscess in another patient) and one in the placebo group (depression). The possibility that anaphylaxis and intracranial abscess were related to eculizumab could not be excluded. No deaths or meningococcal infections occurred. INTERPRETATION: The primary outcome measure did not reach the predefined response rate. However, because this is a small study without statistical comparison with the placebo group, the efficacy and safety of eculizumab could be investigated in larger, randomised controlled trials. FUNDING: The Japan Agency for Medical Research and Development, Ministry of Health, Labor and Welfare, and Alexion Pharmaceuticals. - Establishing diagnostic criteria for Perry syndrome.
Mishima T, Fujioka S, Tomiyama H, Yabe I, Kurisaki R, Fujii N, Neshige R, Ross OA, Farrer MJ, Dickson DW, Wszolek ZK, Hattori N, Tsuboi Y
Journal of neurology, neurosurgery, and psychiatry, 89, 5, 482, 487, 2018年05月, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), OBJECTIVE: To establish international diagnostic criteria for Perry syndrome, a disorder characterised by clinical signs of parkinsonism, depression/apathy, weight loss, respiratory symptoms, mutations in the DCTN1 gene and TAR DNA-binding protein 43 (TDP-43) pathology. METHODS: Data from the published literature and newly identified patients were gathered and analysed during and after the International Symposium on Perry syndrome in Tokyo to identify diagnostic criteria for Perry syndrome. RESULTS: Eighty-seven patients with Perry syndrome carrying DCTN1 mutations from 20 families were included in this study, and common signs of the disorder were identified, including parkinsonism (95.2% of patients), depression/apathy (71.4%), respiratory symptoms (66.7%) and weight loss (49.2%). CONCLUSIONS: Based on our findings, we propose the following definitive diagnostic criteria for Perry syndrome: the presence of four cardinal signs of Perry syndrome, accompanied by a mutation in DCTN1; or a family history of the disease, parkinsonism and a mutation in DCTN1; or the presence of four cardinal signs and pathological findings that include nigral neuronal loss and TDP-43 pathology. As patients with Perry syndrome present with uniform clinical, genetic and pathological features, we further propose the disorder be termed 'Perry disease.' - Relation of overactive bladder with motor symptoms and dopamine transporter imaging in drug-naïve Parkinson's disease.
Mito Y, Yabe I, Yaguchi H, Takei T, Terae S, Tajima Y
Parkinsonism & related disorders, 50, 37, 41, Elsevier Ltd, 2018年05月01日, [査読有り]
英語, 研究論文(学術雑誌), Objectives: The aim of the present study was to determine the relation of urinary dysfunction with motor symptoms and nigrostriatal neuron loss in drug-naïve patients with Parkinson's disease (PD). We therefore examined the relation of overactive bladder (OAB) symptoms with motor symptoms and striatal dopamine transporter (DAT) binding measured by [123-Iodine]-fluoropropyl-2beta-carbomethoxy-3beta-(4-iodophenylnortropane) dopamine transporter single-photon emission computed tomography (123I-FP-CIT SPECT). Patients and methods: Thirty-one untreated PD patients (12 men and 19 women with a mean age of 71.2 ± 6.7 years) were included in this study. Patients were evaluated with overactive bladder symptom score (OABSS) and divided into an OAB group and Non-OAB group. They underwent clinical assessments and 123I-FP-CIT SPECT imaging. Motor symptoms were assessed using Unified Parkinson's Disease Rating Scale (UPDRS). Results: The results showed that UPDRS motor score (p = 0.01) and akinetic-rigid score (p = 0.002) were higher and that striatal DAT availability (p = 0.01) was lower in the OAB group than in the Non-OAB group. However, tremor score, age, and duration of PD showed no significant differences between the OAB group and Non-OAB group. Conclusions: Urinary dysfunction in untreated PD is related with increase in motor symptoms (especially bradykinesia and axial symptoms) and reduction of striatal DAT availability. - Long-Term Outcome of Adenosine A2A Receptor Antagonist on Lower Urinary Tract Symptoms in Male Parkinson Disease Patients
Takeya Kitta, Ichiro Yabe, Yukiko Kanno, Madoka Higuchi, Mifuka Ouchi, Mio Togo, Kimihiko Moriya, Ikuko Takahashi, Masaaki Matsushima, Hidenao Sasaki, Nobuo Shinohara
Clinical Neuropharmacology, 41, 3, 98, 102, Lippincott Williams and Wilkins, 2018年05月01日, [査読有り]
英語, 研究論文(学術雑誌), Objectives In addition to motor symptoms, bladder dysfunction is a major clinical issue in patients with Parkinson disease (PD). Istradefylline is adenosine A2A receptor antagonist approved for PD patients with wearing-off symptoms. The aim of this study was to determine the long-Term effects of istradefylline on lower urinary tract symptoms (LUTSs) in PD patients. Methods We enrolled 14 male PD patients. The mean age of patients was 73 years (61-77 years), the Hoehn-Yahr stage was 2 (2-3), and disease duration was 9 years (3-28 years). The effects of istradefylline (20 mg/d) on LUTSs in PD patients with motor complications after 3, 6, and 12 months of therapy were evaluated based on the International Prostate Symptom Score and Overactive Bladder Symptom Score before and after its administration. Results Motor symptoms significantly improved at 12 months' administration (Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale part III: 30.0 ± 12.9 vs 13.8 ± 8.1
P <
0.01). Significant improvements were also observed in the answers provided on urinary questionnaires (International Prostate Symptom Score, 14.4 ± 7.6 vs 8.5 ± 6.8
Overactive Bladder Symptom Score, 6.9 ± 2.8 vs 5.5 ± 3.7
P <
0.05). Nighttime urinary frequency and the percentage of the nocturnal urine volume also improved significantly at 3 months' administration (P <
0.01). Conclusions Istradefylline effectively improved not only motor symptoms, but also LUTSs in patients with PD. - Background pathology of 'corticobasal degeneration (CBD) mimics' -Japanese validation study of CBD (J-VAC study)-
Shimohata, Takayoshi, Aiba, Ikuko, Yoshida, Mari, Toyoshima, Yasuko, Murayama, Shigeo, Uchihara, Toshiki, Arai, Tetsuaki, Yabe, Ichiro, Hasegawa, Takafumi, Hasegawa, Kazuko, Ikeuchi, Takeshi, Hasegawa, Masato, Komori, Takashi, Wakabayashi, Koichi, Tokumaru, Aya, Sakurai, Keita, Nakashima, Kenji
NEUROLOGY, 90, 15, LIPPINCOTT WILLIAMS & WILKINS, 2018年04月
英語, 研究論文(学術雑誌) - Anti-Sez6l2 antibody detected in a patient with immune-mediated cerebellar ataxia inhibits complex formation of GluR1 and Sez6l2
Hiroaki Yaguchi, Ichiro Yabe, Hidehisa Takahashi, Masashi Watanabe, Taichi Nomura, Takahiro Kano, Masahiko Watanabe, Shigetsugu Hatakeyama
Journal of Neurology, 265, 4, 962, 965, Dr. Dietrich Steinkopff Verlag GmbH and Co. KG, 2018年04月01日, [査読有り]
英語 - Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome.
Ichiro Yabe, Hiroaki Yaguchi, Yasutaka Kato, Yasuo Miki, Hidehisa Takahashi, Satoshi Tanikawa, Shinichi Shirai, Ikuko Takahashi, Mari Kimura, Yuka Hama, Masaaki Matsushima, Shinsuke Fujioka, Takahiro Kano, Masashi Watanabe, Shin Nakagawa, Yasuyuki Kunieda, Yoshio Ikeda, Masato Hasegawa, Hiroshi Nishihara, Toshihisa Ohtsuka, Shinya Tanaka, Yoshio Tsuboi, Shigetsugu Hatakeyama, Koichi Wakabayashi, Hidenao Sasaki
Scientific reports, 8, 1, 819, 819, 2018年01月16日, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), Clinical diagnosis of progressive supranuclear palsy (PSP) is sometimes difficult because various phenotypes have been identified. Here, we report a mutation in the bassoon (BSN) gene in a family with PSP-like syndrome. Their clinical features resembled not only those of PSP patients but also those of individuals with multiple system atrophy and Alzheimer's disease. The neuropathological findings showed a novel three + four repeat tauopathy with pallido-luysio-nigral degeneration and hippocampal sclerosis. Whole-exome analysis of this family identified a novel missense mutation in BSN. Within the pedigree, the detected BSN mutation was found only in affected individuals. Further genetic analyses were conducted in probands from four other pedigrees with PSP-like syndrome and in 41 sporadic cases. Three missense mutations in BSN that are very rarely listed in databases of healthy subjects were found in four sporadic cases. Western blot analysis of tau following the overexpression of wild-type or mutated BSN revealed the possibility that wild-type BSN reduced tau accumulation, while mutated BSN lost this function. An association between BSN and neurological diseases has not been previously reported. Our results revealed that the neurodegenerative disorder associated with the original proband's pedigree is a novel tauopathy, differing from known dementia and parkinsonism syndromes, including PSP. - 遊走性紅斑の出現なく発症した神経ボレリア症の1例
江口 克紀, 津坂 和文, 矢部 一郎, 佐々木 秀直
臨床神経学, 58, 2, 124, 126, (一社)日本神経学会, 2018年
日本語, 研究論文(学術雑誌), 症例は56歳男性である。ダニ咬傷3ヵ月後に腰痛、右外転神経麻痺、左顔面神経麻痺、右下肢筋力低下が出現した。経過中皮疹は出現しなかった。血清の抗ボレリアIgMおよびIgG抗体が陽性であった。神経ボレリア症と診断し、抗菌薬およびステロイドパルス療法にて改善を得た。遊走性紅斑がなくとも、ダニ咬傷歴があり多発脳神経麻痺などの神経症をきたす症例では神経ボレリア症を考慮すべきである。(著者抄録) - Rituximabを含む化学療法後に急速に悪化した抗myelin associate glycoprotein抗体陽性ニューロパチー
江口克紀, 津坂和文, 矢部一郎, 佐々木秀直
神経治療学, 35, 356, 360, 2018年, [査読有り]
日本語, 研究論文(学術雑誌) - 遺伝性脊髄小脳変性症,遺伝性疾患(遺伝病に学ぶ)
矢部 一郎
遺伝子医学, 26, 114, 122, 2018年, [査読有り]
日本語, 研究論文(学術雑誌) - 無侵襲的出生前遺伝学的検査(NIPT)の導入前後で遺伝カウンセリングに来談するクライエントの特徴は変化した
柴田有花, 山田崇弘, 小島崇史, 河口 哲, 赤石理奈, 矢部一郎
日本遺伝カウンセリング学会誌, 39, 61, 72, 2018年, [査読有り]
日本語, 研究論文(学術雑誌) - ランバート・イートン筋無力症候群における3,4-diaminopyridine治療効果の後方視的検討
長沼亮滋, 矢部一郎, 高橋育子, 松島理明, 加納崇裕, 佐々木秀直
臨床神経学, 58, 83, 87, 2018年, [査読有り]
日本語, 研究論文(学術雑誌) - Sez6l2 regulates phosphorylation of ADD and neuritogenesis
Hiroaki Yaguchi, Ichiro Yabe, Hidehisa Takahashi, Masashi Watanabe, Taichi Nomura, Takahiro Kano, Masaki Matsumoto, Keiichi I. Nakayama, Masahiko Watanabe, Shigetsugu Hatakeyama
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 494, 1-2, 234, 241, ACADEMIC PRESS INC ELSEVIER SCIENCE, 2017年12月, [査読有り]
英語, 研究論文(学術雑誌), Increasing evidence shows that immune-mediated mechanisms may contribute to the pathogenesis of central nervous system disorders including cerebellar ataxias, as indicated by the aberrant production of neuronal surface antibodies. We previously reported a patient with cerebellar ataxia associated with production of a new anti-neuronal antibody, anti-seizure-related 6 homolog like 2 (Sez6l2). Sez6l2 is a type 1 membrane protein that is highly expressed in the hippocampus and cerebellar cortex and mice lacking Sez6l2 protein family members develop ataxia. Here we used a proteomics-based approach to show that serum derived from this patient recognizes the extracellular domain of Sez6l2 and that Sez6l2 protein binds to both adducin (ADD) and glutamate receptor 1 (GluR1). Our results indicate that Sez6l2 is one of the auxiliary subunits of the AMPA receptor and acts as a scaffolding protein to link GluR1 to ADD. Furthermore, Sez6l2 overexpression upregulates ADD phosphorylation, whereas siRNA-mediated downregulation of Sez6l2 prevents ADD phosphorylation, suggesting that Sez6l2 modulates AMPAADD signal transduction. (C) 2017 Elsevier Inc. All rights reserved. - The Efficacy of Istradefylline for Treating Mild Wearing-Off in Parkinson Disease
Ichiro Yabe, Mayumi Kitagawa, Ikuko Takahashi, Masaaki Matsushima, Hidenao Sasaki
CLINICAL NEUROPHARMACOLOGY, 40, 6, 261, 263, LIPPINCOTT WILLIAMS & WILKINS, 2017年11月, [査読有り]
英語, Objectives The adenosine A2A antagonist istradefylline has been used to treat Parkinson disease (PD) with symptoms of wearing-off since 2013 in Japan. Previous randomized controlled trials of istradefylline compared with placebo included PD patients experiencing an average daily OFF time of more than 2 hours. The purpose of this study is to assess the efficacy of 20 mg/d istradefylline in PD subjects experiencing an average daily OFF time of 3 hours or less.
Methods Fifteen patients were enrolled into this retrospective study. They received 20 mg/d istradefylline for 12 weeks. Changes in the Unified Parkinson's Disease Rating Scale part III scores in the ON state (ON-UPDRS-III) scores and daily OFF time were assessed at baseline and after 4, 8, and 12 weeks of administration of istradefylline.
Results At baseline, all subjects had shorter daily OFF times, lower doses of L-DOPA and higher ON-UPDRS-III scores than those in previous randomized controlled trials. Twelve weeks of istradefylline significantly reduced ON-UPDRS-III scores (P < 0.001, Wilcoxon signed rank test). Eleven patients (73%) showed more than 50% reductions in ON-UPDRS-III scores. Improvement of ON-UPDRS-III was significantly correlated with baseline ON-UPDRS-III, and the mean ON-UPDRS-III score at end point was 12.1.
Conclusions Our result suggests that 20 mg/d istradefylline significantly improved motor functions in PD patients with mild wearing-off. - Clinical features of patients with epilepsy who were admitted to the emergency department of our hospital
C. Sato, T. Tsuchida, K. Kuroshima, S. Ura, K. Yoshida, I. Yabe, H. Sasaki
Journal of the Neurological Sciences, 381, 685, 686, Elsevier BV, 2017年10月
研究論文(学術雑誌) - Intravenous immunoglobulin for maintenance treatment of chronic inflammatory demyelinating polyneuropathy: a multicentre, open-label, 52-week phase III trial
Satoshi Kuwabara, Masahiro Mori, Sonoko Misawa, Miki Suzuki, Kazutoshi Nishiyama, Tatsuro Mutoh, Shizuki Doi, Norito Kokubun, Mikiko Kamijo, Hiroo Yoshikawa, Koji Abe, Yoshihiko Nishida, Kazumasa Okada, Kenji Sekiguchi, Ko Sakamoto, Susumu Kusunoki, Gen Sobue, Ryuji Kaji
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 88, 10, 832, 838, BMJ PUBLISHING GROUP, 2017年10月, [査読有り]
英語, 研究論文(学術雑誌), Objective Short-term efficacy of induction therapy with intravenous immunoglobulin (Ig) in patients with chronic inflammatory demyelinating polyneuropathy (CIDP) is well established. However, data of previous studies on maintenance therapy were limited up to 24-week treatment period. We aimed to investigate the efficacy and safety of longer-term intravenous Ig therapy for 52 weeks.
Methods This study was an open-label phase 3 clinical trial conducted in 49 Japanese tertiary centres. 49 patients with CIDP who fulfilled diagnostic criteria were included. After an induction intravenous Ig therapy (0.4 g/kg/day for five consecutive days), maintenance dose intravenous Ig (1.0g/kg) was given every 3 weeks for up to 52 weeks. The primary outcome measures were the responder rate at week 28 and relapse rate at week 52. The response and relapse were defined with the adjusted Inflammatory Neuropathy Cause and Treatment scale.
Results At week 28, the responder rate was 77.6% (38/49 patients; 95% CI 63% to 88%), and the 38 responders continued the maintenance therapy. At week 52, 4 of the 38 (10.5%) had a relapse (95% CI 3% to 25%). During 52 weeks, 34 (69.4%) of the 49 enrolled patients had a maintained improvement. Adverse events were reported in 94% of the patients; two patients (66-year-old and 76-year-old men with hypertension or diabetes) developed cerebral infarction (lacunar infarct with good recovery), and the other adverse effects were mild and resolved by the end of the study period.
Conclusions Maintenance treatment with 1.0 g/kg intravenous Ig every 3 weeks is an efficacious therapy for patients with CIDP, and approximately 70% of them had a sustained remission for 52 weeks. Thrombotic complications should be carefully monitored, particularly in elderly patients with vascular risk factors. - A nationwide survey of familial syringomyelia in Japan
Ichiro Yabe, Masaaki Matsushima, Hidenao Sasaki, Toshitaka Seki
JOURNAL OF THE NEUROLOGICAL SCIENCES, 381, 128, 129, ELSEVIER SCIENCE BV, 2017年10月, [査読有り]
英語, 研究論文(学術雑誌) - 脊髄小脳変性症の治療の進歩2016
矢部一郎,佐々木秀直
神経治療学, 34, 5, 510, 517, 2017年09月, [筆頭著者] - Open-label 24-week extension study of edaravone (MCI-186) in amyotrophic lateral sclerosis
Abe K, Aoki M, Tsuji S, Itoyama Y, Sobue G, Togo M, Hamada C, Sasaki H, Yabe I, Doi S, Warita H, Imai T, Ito H, Fukuchi M, Osumi E, Wada M, THE WRITING GROUP, ON BEHALF OF THE, EDARAVONE (MCI, ALS, STUDY GROUP
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18, 55, 63, TAYLOR & FRANCIS LTD, 2017年09月, [査読有り]
英語, 研究論文(学術雑誌), We aimed to explore the longer-term efficacy and safety of edaravone in an active-treatment extension period following the double-blind period of the second phase III study. Patients who met all the following criteria (scores >2 points on all 12 items of the revised amyotrophic lateral sclerosis functional rating scale [ALSFRS-12], forced vital capacity >80%, definite or probable ALS, and disease duration <2 years) were randomised to 60 mg intravenous edaravone or placebo for six cycles in the double-blind period, and then offered the opportunity to proceed to this 24-week open-label extension period. One hundred and twenty-three of 137 patients continued to the extension period: 65 edaravone-edaravone (E-E group) and 58 placebo-edaravone (P-E group). Change (mean standard deviation; SD) in the ALSFRS-R score from baseline in the double-blind period was 4.1 +/- 3.4 and 6.9 +/- 5.1 in the E-E group and P-E group, respectively, while it was 8.0 +/- 5.6 in the E-E group and 10.9 perpendicular to 16.9 in the P-E group over the whole 48-week period. The ALSFRS-R score changed almost linearly throughout Cycles 1-12 in the E-E group. The most commonly reported adverse events were constipation, dysphagia, and contusion. There was no sudden deterioration in the ALSFRS-R score of the E-E group. No safety concerns related to edaravone were detected. - SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia
Mari Kimura, Ichiro Yabe, Yuka Hama, Katsuki Eguchi, Shigehisa Ura, Kazufumi Tsuzaka, Shoji Tsuji, Hidenao Sasaki
JOURNAL OF HUMAN GENETICS, 62, 9, 857, 859, NATURE PUBLISHING GROUP, 2017年09月, [査読有り]
英語, 研究論文(学術雑誌), Spinocerebellar ataxia (SCA) is a group of dominantly inherited heterogeneous disorders in which 43 subtypes have been identified to date. Recently, Japanese and French families with SCA type 42 (SCA42) were found to have a missense mutation (c.5144G> A; R1715H) in CACNA1G. We performed genetic analysis of 84 unrelated families to find the prevalence of SCA42 in Japan. Two families were found to have the previously reported missense mutation. Clinical presentations of the affected members of these families were similar to those of the previously reported French and Japanese families. Our study demonstrates that SCA42 exists in small numbers in Japan, and further supports the idea that SCA42 is a slowly progressive, pure cerebellar ataxia. - 薬物療法の現状と最近の試み~Friedreich失調症とMachado-Joseph病を中心に
矢部一郎,佐々木秀直
Brain and Nerve, 69, 8, 913, 924, Igaku-Shoin Ltd, 2017年08月01日, [査読有り], [筆頭著者]
日本語, 研究論文(学術雑誌), We reviewed advances in therapeutics for both Friedreich ataxia and Machado-Joseph disease. Various clinical trials have been carried out, mainly for Friedreich ataxia
however, the therapeutic reports from these trials have not provided much evidence for success. Some interesting clinical trials have been reported, and further developments are expected. Regenerative therapy using umbilical cord mesenchymal stem cells and a therapeutic study investigating a new pathomechanism in animal and/or cell culture studies were reported. We expect that these results will translate to therapeutic strategies for patients with these disorders. In addition, biomarkers play an important role when novel treatments are discovered and clinical trials are performed: hence at present, a number of biomarkers such as gait analysis by triaxial accelerometers and prism adaptation of hand-reaching movements, are being examined. - Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial
Koji Abe, Masashi Aoki, Shoji Tsuji, Yasuto Itoyama, Gen Sobue, Masanori Togo, Chikuma Hamada, Masahiko Tanaka, Makoto Akimoto, Kazue Nakamura, Fumihiro Takahashi, Kazuoki Kondo, Hiide Yoshino
LANCET NEUROLOGY, 16, 7, 505, 512, ELSEVIER SCIENCE INC, 2017年07月, [査読有り]
英語, 研究論文(学術雑誌), Background In a previous phase 3 study in patients with amyotrophic lateral sclerosis (ALS), edaravone did not show a significant difference in the Revised ALS Functional Rating Scale (ALSFRS-R) score compared with placebo. Post-hoc analysis of these data revealed that patients in an early stage with definite or probable diagnosis of ALS, defined by the revised El Escorial criteria, who met a select set of inclusion criteria showed a greater magnitude of effect than did the full study population. We aimed to substantiate this post-hoc result and assess safety and efficacy of edaravone in a phase 3 trial that focused on patients with early stage ALS who met the post-hoc analysis inclusion criteria.
Methods In this phase 3, randomised, double-blind, parallel-group study, patients aged 20-75 years with ALS of grade 1 or 2 in the Japan ALS Severity Classification, scores of at least 2 points on all 12 items of ALSFRS-R, forced vital capacity of 80% or more, definite or probable ALS according to the revised El Escorial criteria, and disease duration of 2 years or less were recruited from 31 hospitals in Japan. Eligible patients also had a decrease of 1-4 points in the ALSFRS-R score during a 12-week observation period before randomisation. Patients meeting all criteria were then randomly assigned 1:1 to receive 60 mg intravenous edaravone or intravenous saline placebo for 6 cycles (4 weeks per cycle with 2 weeks on, 2 weeks off) for a total treatment duration of 24 weeks. In cycle 1, the study drug or placebo was administered once per day for 14 days within a 14 day period, followed by the drug-free period. In cycle 2 and thereafter, the study drug or placebo was administered for 10 days within a 14 day period, followed by a 2 week drug-free period. Participants and investigators, including those assessing outcomes, were masked to treatment allocation. The primary efficacy outcome was the change in ALSFRS-R score from the baseline to 24 weeks (or at discontinuation if this was after the third cycle) after randomisation. The primary outcome was assessed in all patients who had received at least one treatment infusion, had at least one assessment post-baseline, and reached the end of cycle 3. For patients with missing values at the end of cycle 6, data were imputed by the last observation carried forward (LOCF) method, provided the patients had completed at least cycle 3. Safety was assessed in all patients who had received at least one treatment infusion and had at least one assessment post-baseline. This trial is registered with ClinicalTrials.gov, NCT01492686.
Findings Between Nov 28, 2011, and Sept 3, 2014, we screened 213 patients, and enrolled 192 as potential participants. Of these, 137 patients completed the observation period: 69 were randomly assigned to receive edaravone, and 68 were randomly assigned to receive placebo. 68 patients taking edaravone and 66 taking placebo were included in the primary efficacy analysis. For the primary outcome, the change in ALSFRS-R score was -5.01 (SE 0.64) in the edavarone group and -7.50 (0.66) in the placebo group. The least-squares mean difference between groups was 2.49 (SE 0.76, 95% CI 0.99-3.98; p = 0.0013) in favour of edaravone. Treatment-emergent adverse events were reported in 58 (84%) patients receiving edaravone and 57 (84%) patients receiving placebo. 11 (16%) patients taking edaravone and 16 (24%) taking placebo had serious adverse events, and one (1%) patient receiving edaravone and four (6%) patients receiving placebo had adverse events (one dysphagia in edaravone group and one dyspnoea, two respiratory disorder, and one rash in the placebo group) that led to withdrawal.
Interpretation Edaravone showed efficacy in a small subset of people with ALS who met criteria identified in post-hoc analysis of a previous phase 3 study, showing a significantly smaller decline of ALSFRS-R score compared with placebo. There is no indication that edaravone might be effective in a wider population of patients with ALS who do not meet the criteria. - Effects of age and glucose levels on lactate levels in cerebrospinal fluid examination of neurodegenerative diseases
Fumihito Nakano, Ken Sakushima, Reona Umeki, Ichiro Yabe, Akira Endoh, Hidenao Sasaki
JOURNAL OF THE NEUROLOGICAL SCIENCES, 378, 45, 48, ELSEVIER SCIENCE BV, 2017年07月, [査読有り]
英語, 研究論文(学術雑誌), Despite recent studies examining the association between neurodegenerative diseases and mitochondrial dysfunction, there are not sufficient data on factors that influence cerebrospinal fluid (CSF) lactate levels. Thus, we investigated factors that affect CSF lactate levels in neurodegenerative diseases. We extracted laboratory findings, including CSF lactate, glucose, and protein levels, and demographic and background information, including age and gender, from the electronic medical records of patients with neurodegenerative diseases in order to explore factors that have an impact CSF lactate levels. These patients had been admitted to our department and underwent a CSF examination between April 2007 and March 2015. Data from 83 patients (average age 64.5 years; 45 males and 38 females) were analyzed. The patients' diagnoses included amyotrophic lateral sclerosis, multiple system atrophy, spinocerebellar degeneration, corticobasal syndrome, Parkinson's disease, and Huntington's disease. CSF lactate levels were higher in patients with a neurodegenerative disease who were aged 65 years and older relative to those who were aged under 65 years (p < 0.05), and CSF lactate and glucose levels showed a moderate positive correlation (r = 0.487). Age and CSF glucose levels influenced CSF lactate levels even after adjusting for gender, age, CSF protein levels, and CSF glucose levels. When investigating CSF lactate levels in neurodegenerative diseases, it is necessary to consider patients' age and CSF glucose levels. (C) 2017 Elsevier B.V. All rights reserved. - A registry study of multiple system atrophy in Hokkaido, Japan: HoRC-MSA Project 2014-16
M. Matsushima, K. Sakushima, I. Yabe, Y. Kanatani, Y. Ito, T. Matsuoka, T. Katayama, H. Uesugi, K. Sako, A. Takei, M. Mori, S. Shimohama, N. Sato, S. Kikuchi, H. Sasaki
MOVEMENT DISORDERS, 32, WILEY, 2017年06月, [査読有り]
英語 - Establishing diagnostic criteria for Perry syndrome.
Mishima T, Fujioka S, Tomiyama H, Yabe I, Kurisaki R, Fujii N, Neshige R, Ross OA, Farrer MJ, Dickson DW, Wszolek ZK, Hattori N, Tsuboi Y
J Neurol Neurosurg Psychiatry, 13, 8, 5, 8, 2017年06月
英語 - Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.
Yamashita T, Mitsui J, Shimozawa N, Takashima S, Umemura H, Sato K, Takemoto M, Hishikawa N, Ohta Y, Matsukawa T, Ishiura H, Yoshimura J, Doi K, Morishita S, Tsuji S, Abe K
Journal of the neurological sciences, 375, 424, 429, 2017年04月15日, [査読有り], [国際誌]
英語, Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement. All 3 siblings are compound heterozygous for a previously reported mutation, c.2T>C (p.M1T), and a novel mutation, c.920G>A, causing a missense change (p.C307Y) located in the RING finger domain of PEX10. The present cases suggest that these PEX10 mutations involve not only cerebellar but also more multiple nervous systems including pupillary autonomic, pyramidal and extrapyramidal systems. - The Letter to be published with the Letter, Amyotrophic lateral sclerosis with frontotemporal dementia (ALS-FTD) syndrome as a phenotype of Creutzfeldt-Jakob disease (CJD)? A case report
Hiroaki Yaguchi, Akiko Takeuchi, Kazuhiro Horiuchi, Ikuko Takahashi, Shinnichi Shirai, Sachiko Akimoto, Katsuya Satoh, Fumio Moriwaka, Ichiro Yabe, Ichiro Yabe
JOURNAL OF THE NEUROLOGICAL SCIENCES, 375, 490, 491, ELSEVIER SCIENCE BV, 2017年04月, [査読有り]
英語 - 脊髄空洞症
矢部一郎,佐々木秀直
神経治療学, 34, 346, 349, 2017年, [筆頭著者] - ITB療法において術中カテーテル造影が有用であった2例
高宮宗一朗,笹森 徹,濱上祝嗣,関 俊隆,加納崇裕,矢部一郎,佐々木秀直,寳金清博
Neurological Surgery, 45, 53, 58, 2017年 - ITB療法において術中カテーテル造影が有用であった2例
高宮 宗一朗, 笹森 徹, 濱内 祝嗣, 関 俊隆, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 寳金 清博
Neurological Surgery, 45, 1, 53, 58, (株)医学書院, 2017年01月
日本語, ITB(inrathecal baclofen)療法の方法は通常、薬液を充填したプログラム式輸液ポンプを腹部皮下もしくは腹直筋膜下へ留置し、脊髄クモ膜下腔へ留置した脊髄側カテーテルとコネクターおよびポンプ側カテーテルで接続することにより、脊髄周囲への持続的な薬剤投与を可能とする。今回、ITBポンプ植込み術の際に脊髄側カテーテル断端からの髄液流出は良好であったものの、実際には脊髄側カテーテル先端部が硬膜下腔へ留置されてしまっていた症例を2例経験した。症例は30代女性と20代男性で、いずれも術中カテーテル造影を行うことで脊髄側カテーテルを確実にクモ膜下腔へ留置することができた。具体的には、脊髄側カテーテルのスタイレットを抜去後に、カテーテル断端からイソビスト注240をX線透視下で圧入するだけの簡便な操作を加えることで、脊髄側カテーテルが確実にクモ膜下腔へ挿入されたことを確認することが可能であった。 - Amyotrophic lateral;sclerosis with;frontotemporal dementia (ALS-FTD;syndrome as a phenotype of Creutzfeldt-Jakob;disease (CJD) ? : A case report
Yaguchi H, Takeuchi A, Horiuchi K, Takahashi I, Shirai S, Akimoto S, Satoh K, Moriwaka F, Yabe I, Sasaki H
J Neurol Sci, 372, 444, 446, ELSEVIER SCIENCE BV, 2017年, [査読有り]
英語 - Pseudo-homozygous mutation due to a primer site polymorphism in hereditary ATTR amyloidosis: a pitfall of PCR-based genetic testing
Yuka Shibata, Masaaki Matsushima, Ichiro Yabe, Koichiro Matsuda, Azusa Nagai, Takahiro Kano, Takahiro Yamada, Yoshiki Sekijima, Hidenao Sasaki
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 24, 1, 66, 67, TAYLOR & FRANCIS LTD, 2017年, [査読有り]
英語 - Validity and reliability of a pilot scale for assessment of multiple system atrophy symptoms.
Matsushima M, Yabe I, Takahashi I, Hirotani M, Kano T, Horiuchi K, Houzen H, Sasaki H
Cerebellum Ataxias, 4, 11, 11, 2017年, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), BACKGROUND: Multiple system atrophy (MSA) is a rare progressive neurodegenerative disorder for which brief yet sensitive scale is required in order for use in clinical trials and general screening. We previously compared several scales for the assessment of MSA symptoms and devised an eight-item pilot scale with large standardized response mean [handwriting, finger taps, transfers, standing with feet together, turning trunk, turning 360°, gait, body sway]. The aim of the present study is to investigate the validity and reliability of a simple pilot scale for assessment of multiple system atrophy symptoms. METHODS: Thirty-two patients with MSA (15 male/17 female; 20 cerebellar subtype [MSA-C]/12 parkinsonian subtype [MSA-P]) were prospectively registered between January 1, 2014 and February 28, 2015. Patients were evaluated by two independent raters using the Unified MSA Rating Scale (UMSARS), Scale for Assessment and Rating of Ataxia (SARA), and the pilot scale. Correlations between UMSARS, SARA, pilot scale scores, intraclass correlation coefficients (ICCs), and Cronbach's alpha coefficients were calculated. RESULTS: Pilot scale scores significantly correlated with scores for UMSARS Parts I, II, and IV as well as with SARA scores. Intra-rater and inter-rater ICCs and Cronbach's alpha coefficients remained high (> 0.94) for all measures. CONCLUSION: The results of the present study indicate the validity and reliability of the eight-item pilot scale, particularly for the assessment of symptoms in patients with early state multiple system atrophy. - [Utility of Intraoperative Catheter Myelography during Intrathecal Baclofen Pump Implantation:Report of 2 Cases].
Takamiya S, Sasamori T, Hamauchi S, Seki T, Kano T, Yabe I, Sasaki H, Houkin K
No shinkei geka. Neurological surgery, 45, 1, 53, 58, 2017年01月, [査読有り], [国内誌]
日本語, 研究論文(学術雑誌), We report two patients in whom the intrathecal baclofen(ITB)catheter was located in the subdural space, although we had confirmed good outflow of spinal fluid from the spinal catheter. Patient 1 was a woman in her 30s with spastic quadriplegia due to subarachnoid hemorrhage. An ITB pump was implanted, and a good outflow of spinal fluid from the spinal catheter was observed during the surgery. Postoperatively, her spasticity did not improve. Catheter myelography revealed that the spinal catheter was located in the subdural space. Using intraoperative catheter myelography, we corrected the position of the catheter. Patient 2 was a man in his 20s diagnosed with adrenoleukodystrophy. An ITB therapy was performed to improve his spastic gait. Intraoperative catheter myelography showed that the spinal catheter was located in the subdural space, although there was good outflow of spinal fluid from the catheter. Our experience suggests that the outflow of spinal fluid alone should not be used to determine the location of the spinal catheter. Intraoperative catheter myelography is useful for the correct placement of the spinal catheter in the subarachnoid space. - Neuromyelitis Optica Spectrum Disorder with Recurrent Intracranial Hemorrhage
Hiroaki Yaguchi, Yasunori Mito, Ikkei Ohashi, Taichi Nomura, Ichiro Yabe, Yasutaka Tajima
INTERNAL MEDICINE, 56, 13, 1729, 1732, JAPAN SOC INTERNAL MEDICINE, 2017年, [査読有り]
英語, 研究論文(学術雑誌), The patient was a woman without hypertension who had previously experienced intracranial hemorrhage twice at 48 and 56 years of age. At 59 years of age, she was diagnosed with neuromyelitis optica spectrum disorder (NMOSD) based on the presence of a brain stem lesion and the detection of anti-aquaporin 4 (AQP4) antibodies. After 5 months of continuous treatment with prednisolone (15 mg/day), she presented with optic neuritis and intracranial bleeding. A recurrent attack of NMOSD and intracranial hemorrhage were concurrently diagnosed. We herein report a case of NMOSD with recurrent intracranial hemorrhage, which indicates an association between NMOSD and cerebellar vascular dysfunction. - Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation
Masaaki Matsushima, Ichiro Yabe, Masaya Tsuda, Mamoru Sakakibara, Tsuyoshi Shimamura, Hidenao Sasaki
INTERNAL MEDICINE, 56, 23, 3231, 3235, JAPAN SOC INTERNAL MEDICINE, 2017年, [査読有り]
英語, 研究論文(学術雑誌), A 54-year-old man with polycystic liver disease received a domino liver transplantation (DLT) from a patient of hereditary ATTR amyloidosis with the transthyretin Ser50Arg mutation. Ten years after transplantation, he felt a slight numbness in his toes, and cardiac amyloidosis was simultaneously suspected upon a heart function evaluation. Biopsy specimens from the myocardium revealed transthyretin amyloidosis with the Ser50Arg mutation. Oral tafamidis therapy has inhibited the progression of neurological and cardiovascular symptoms this far. We herein report this first case of amyloid polyneuropathy and myocardial amyloidosis after DLT from hereditary ATTR amyloidosis with a transthyretin Ser50Arg mutation and discuss similar cases of other mutations. - 原発性進行性発語失行(ppAOS)の症候と経過
大槻 美佳, 中川 賀嗣, 輿水 修一, 緒方 昭彦, 水戸 泰紀, 濱田 晋輔, 浦 茂久, 吉田 一人, 矢部 一郎, 佐々木 秀直
臨床神経学, 56, Suppl., S314, S314, (一社)日本神経学会, 2016年12月
日本語 - A Prospective, Multicenter, Randomized Phase II Study to Evaluate the Efficacy and Safety of Eculizumab in Patients with Guillain-Barré Syndrome (GBS): Protocol of Japanese Eculizumab Trial for GBS (JET-GBS).
Yamaguchi N, Misawa S, Sato Y, Nagashima K, Katayama K, Sekiguchi Y, Iwai Y, Amino H, Suichi T, Yokota T, Nishida Y, Kohara N, Hirata K, Nishiyama K, Yabe I, Kaida KI, Suzuki N, Nodera H, Tsuji S, Koike H, Kira JI, Hanaoka H, Kusunoki S, Kuwabara S, JET-GBS Group
JMIR research protocols, 5, 4, e210, 2016年11月07日, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), BACKGROUND: Guillain-Barré syndrome (GBS) is an immune-mediated neuropathy that causes acute flaccid paralysis. Immunoglobulin and plasma exchange are established treatments for GBS; however, a substantial number of patients, particularly those with severe disease, have poor recovery and residual deficits. Recent studies suggest that complement activation plays a pivotal role in GBS-associated axonal degeneration, and eculizumab is a humanized monoclonal antibody that specifically binds to complement component 5 and potently inhibits complement activation. OBJECTIVE: This clinical trial aims to evaluate the efficacy and safety of eculizumab, a humanized monoclonal antibody directed against complement component 5, for treatment of GBS. METHODS: The Japanese Eculizumab Trial for GBS (JET-GBS) is a prospective, multicenter, placebo-controlled, double-blind, randomized phase II study conducted at 13 tertiary neurology centers and is funded by the Japan Agency for Medical Research and Development. A total of 33 GBS patients unable to walk independently within 2 weeks from symptom onset (Hughes functional grade 3-5) were randomized at a 2:1 ratio to receive either intravenous eculizumab (900 mg/day) or placebo once weekly for 4 weeks, followed by 20 weeks of follow-up. The primary endpoint for efficacy is the proportion of patients who regain their ability to walk without aid at 4 weeks after the first dose of the study treatment, while primary safety outcomes are the incidence of adverse events and serious adverse events during the trial. RESULTS: Enrollment for the trial began in August 2015. This trial is still ongoing. All participants have been enrolled, and follow-up will be completed in October 2016. CONCLUSIONS: This study is the first to investigate the efficacy and safety of eculizumab for GBS. In case of a positive result, we will plan a phase III trial to investigate this issue in a larger number of patients. CLINICALTRIAL: UMIN Clinical Trials Registry UMIN 000018171; https:/upload.umin.ac.jp/cgi-open-bin/ctr/ctr.cgi?function= brows&action=brows&type=summary&language=J&recptno=R000020978 (Archived by WebCite at http://www.webcitation.org/ 6lTiG8ltG). Clinical Trials.gov NCT02493725; https://clinicaltrials.gov/ct2/show/NCT02493725 (Archived by WebCite at http://www.webcitation.org/6lVJZXKSL). - Clinical efficacy of istradefylline on lower urinary tract symptoms in Parkinson's disease
Takeya Kitta, Ichiro Yabe, Ikuko Takahashi, Masaaki Matsushima, Hidenao Sasaki, Nobuo Shinohara
INTERNATIONAL JOURNAL OF UROLOGY, 23, 10, 893, 894, WILEY-BLACKWELL, 2016年10月, [査読有り]
英語 - Safety and efficacy of thalidomide in patients with POEMS syndrome: a multicentre, randomised, double-blind, placebo-controlled trial
Sonoko Misawa, Yasunori Sato, Kanako Katayama, Kengo Nagashima, Reiko Aoyagi, Yukari Sekiguchi, Gen Sobue, Haruki Koike, Ichiro Yabe, Hidenao Sasaki, Osamu Watanabe, Hiroshi Takashima, Masatoyo Nishizawa, Izumi Kawachi, Susumu Kusunoki, Yoshiyuki Mitsui, Seiji Kikuchi, Ichiro Nakashima, Shu-ichi Ikeda, Nobuo Kohara, Takashi Kanda, Jun-ichi Kira, Hideki Hanaoka, Satoshi Kuwabara
LANCET NEUROLOGY, 15, 11, 1129, 1137, ELSEVIER SCIENCE INC, 2016年10月, [査読有り]
英語, 研究論文(学術雑誌), Background Polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome is a rare cause of demyelinating neuropathy, with multi-organ involvement characterised by plasma cell dyscrasia and VEGF overproduction. No treatments have been established for patients with POEMS syndrome who are not eligible for stem-cell transplantation. Thalidomide suppresses VEGF and plasma cell proliferation. We aimed to assess the safety and efficacy of thalidomide for the treatment of POEMS syndrome.
Methods We did a randomised, double-blind, placebo-controlled, phase 2/3 trial at 12 hospitals in Japan. Adults (age >= 20 years) with POEMS syndrome who were ineligible for autotransplantation were randomly assigned (1:1) by a minimisation method to treatment with oral dexamethasone (12 mg/m(2) per day on the first 4 days of every 28-day cycle) plus either oral thalidomide (200 mg daily) or placebo for six cycles. All study personnel and patients were masked to treatment allocation. The primary endpoint was the reduction rate of serum VEGF concentrations at 24 weeks. Analysis was by intention to treat. This study is registered with the UMIN Clinical Trials Registry, UMIN000004179.
Findings Between Nov 11, 2010, and July 3, 2014, we randomly assigned 25 patients to receive either thalidomide (n=13) or placebo (n=12); one patient in the placebo group was excluded from analyses because of a protocol violation. The adjusted mean VEGF concentration reduction rate at 24 weeks was 0.39 (SD 0.34) in the thalidomide group compared with -0.02 (0.54) in the placebo group (adjusted mean difference 0.41, 95% CI 0.02-0.80; p=0.04). Mild sinus bradycardia was more frequent in the thalidomide group than in the placebo group (seven [54%] vs zero; p=0.006). Five patients had serious adverse events: three in the thalidomide group (transient cardiac arrest, heart failure, and dehydration) and two in the placebo group (ileus and fever). No deaths occurred during the randomised study. In the 48-week open-label study period (n=22), newly developed adverse events were sinus bradycardia (n=4), constipation (n=5), and mild sensory neuropathy (n=5). Two patients died in the open-label study; both patients were initially in the placebo group, and the cause of death was progression of the disease.
Interpretation Thalidomide reduces serum VEGF concentrations and represents a new treatment for patients with POEMS syndrome who are not eligible for stem-cell transplantation. Thalidomide treatment poses a risk of bradycardia; however, the benefits are likely to exceed the risk. - Time course of downbeat positioning nystagmus in familial hemiplegic migraine type 1 treated with acetazolamide
Masanobu Suzuki, Keishi Fujiwara, Takashi Tsubuku, Ichiro Yabe, Hidenao Sasaki, Satoshi Fukuda
JOURNAL OF THE NEUROLOGICAL SCIENCES, 368, 206, 208, ELSEVIER SCIENCE BV, 2016年09月, [査読有り]
英語 - Pseudo-dystonia in sarcoid myopathy.
Uwatoko, H, Yabe, I, Shirai, S, Takahashi, I, Matsushima, M, Kano, T, Sasaki, H
Neurology and Clinical Neuroscience, 4, 1, 34, 35, JOHN WILEY & SONS INC, 2016年08月, [査読有り]
英語, 研究論文(学術雑誌), We describe a 61-year-old woman with difficulty extending her left ring finger and little finger caused by sarcoid myopathy. As her symptom temporarily improved with carpal flexion or forearm pronation, we once misdiagnosed her as having dystonia of the upper limb. Her symptom gradually worsened, and muscle biopsy specimen revealed sarcoid myopathy. Muscle magnetic resonance imaging of the left forearm showed abnormal signals in the quadriceps femoris and biceps brachii muscles, and the area surrounding the flexor digitorum profundus and supinator muscles. Treatment with prednisolone was effective, and stopped progression of the symptom. Adhesion of the supinator muscle and flexor digitorum profundus as a result of inflammation might have caused limited extension of the flexor digitorum profundus. - Urinary dysfunction and motor symptoms in untreated Parkinson's disease
Yasunori Mito, Ichiro Yabe, Hiroaki Yaguchi, Yasutaka Tajima
JOURNAL OF THE NEUROLOGICAL SCIENCES, 365, 147, 150, ELSEVIER SCIENCE BV, 2016年06月, [査読有り]
英語, 研究論文(学術雑誌), Objectives: The aim of the present study was to determine the associations of motor symptoms in untreated Parkinson's disease (PD) with urinary dysfunction. We therefore examined the association between the overactive bladder symptom score (OABSS) and Unified Parlcinson's Disease Rating Scale (UPDRS). Patients and methods: Thirty-one untreated PD patients without dementia (12 men and 19 women with a mean age of 72.0 +/- 6.7 years) were included in this study. Their urinary tract dysfunctions were rated using the OABSS. The motor symptoms of all patients were also assessed using UPDRS. Results: OABSS had significant correlations with UPDRS motor score (Spearman's rho = 0.39, p = 0.03) and akinetic-rigid score (Spearman's rho = 0.47, p = 0.01). However, OABSS showed no significant correlation with tremor score, age, or duration of PD. Conclusions: Higher OABSS was consistently associated with increase in severity of motor disorders, especially akineticrigid score, in the study participants. (C) 2016 Elsevier B.V. All rights reserved. - Comparison of Different Symptom Assessment Scales for Multiple System Atrophy.
Masaaki Matsushima, Ichiro Yabe, Koji Oba, Ken Sakushima, Yasunori Mito, Asako Takei, Hideki Houzen, Kazufumi Tsuzaka, Kazuto Yoshida, Yasunori Maruo, Hidenao Sasaki
Cerebellum (London, England), 15, 2, 190, 200, 2016年04月, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), To identify the most sensitive scale for use in clinical trials on multiple system atrophy (MSA), a short and sensitive scale is needed for MSA clinical trials. Potential candidates are the Unified MSA Rating Scale (UMSARS), Scale for the Assessment and Rating of Ataxia (SARA), Berg Balance Scale (BBS), MSA Health-Related Quality of Life scale (MSA-QoL), and Scales for Outcomes in Parkinson's Disease-Autonomic questionnaire (SCOPA-AUT). We enrolled patients with MSA from eight hospitals in Hokkaido, Japan. Board-certified neurologists assessed each patient at 6-month intervals and scored them on the UMSARS, SARA, BBS, MSA-QoL, and SCOPA-AUT. Score changes were evaluated using the standardized response mean (SRM). The correlation between disease duration and each score was examined. The first evaluation was conducted on 85 patients (60 patients with MSA cerebellar ataxia dominant subtype [MSA-C] and 25 patients with MSA Parkinsonism-dominant subtype [MSA-P]). Sixty-nine patients were examined after 6 months and 63 patients after 12 months. The UMSARS Part 4 had the largest SRM after 6 months and the SARA after 12 months. SRMs for MSA-P, the shorter duration group, and the early-onset group were larger than were those for MSA-C, the longer duration group, and the late-onset group. SRMs for items regarding skilled hand activities, walking, and standing were relatively large. Our study indicates that the UMSARS (parts 2 and 4), SARA, and BBS are sensitive scales for evaluating MSA progression over 12 months. Items with large SRMs effectively evaluated short-term changes. - Frontotemporal dementia and progressive supranuclear palsy-like syndrome with a novel TARDBP mutation
Ichiro Yabe, Fumihito Nakano, Shinichi Shirai, Masaaki Matsushima, Ikuko Takahashi, Hidenao Sasaki
NEUROLOGY AND CLINICAL NEUROSCIENCE, 4, 2, 76, +, WILEY, 2016年03月
英語, 研究論文(学術雑誌), TARDBP mutation has been shown to cause frontotemporal dementia and progressive supranuclear palsy-like disease. In this case study, we present the first reported Japanese case of frontotemporal dementia and progressive supranuclear palsy-like syndrome caused by a novel TARDBP mutation. A 63-year-old man was diagnosed with frontotemporal dementia and progressive supranuclear palsy-like disease. An older brother of the patient's deceased father showed similar symptoms. Genetic analysis showed a novel TARDBP heterozygous mutation (c.715 A > G, p.I239V). This mutation is not found in databases of the 1000 genome project and Human Genomic Variation, but is identified as a pathogenic mutation by Mutation Taster. Although the hot cross bun sign as a result of frontotemporal dementia and progressive supranuclear palsy has been reported only rarely, brain magnetic resonance imaging of this patient showed the hot cross bun sign and T2-hyperintensity of the middle cerebellar peduncles along with frontotemporal and midbrain tegmentum atrophy. - Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy
Songqing Li, Peipei Zhang, Brian D. Freibaum, Nam Chul Kim, Regina-Maria Kolaitis, Amandine Molliex, Anderson P. Kanagaraj, Ichiro Yabe, Mishie Tanino, Shinya Tanaka, Hidenao Sasaki, Eric D. Ross, J. Paul Taylor, Hong Joo Kim
HUMAN MOLECULAR GENETICS, 25, 5, 936, 950, OXFORD UNIV PRESS, 2016年03月, [査読有り]
英語, 研究論文(学術雑誌), Adult-onset inherited myopathies with similar pathological features, including hereditary inclusion body myopathy (hIBM) and limb-girdle muscular dystrophy (LGMD), are a genetically heterogeneous group of muscle diseases. It is unclear whether these inherited myopathies initiated by mutations in distinct classes of genes are etiologically related. Here, we exploit a genetic model system to establish a mechanistic link between diseases caused by mutations in two distinct genes, hnRNPA2B1 and DNAJB6. Hrb98DE and mrj are the Drosophila melanogaster homologs of human hnRNPA2B1 and DNAJB6, respectively. We introduced disease-homologous mutations to Hrb98DE, thus capturing mutation-dependent phenotypes in a genetically tractable model system. Ectopic expression of the disease-associated mutant form of hnRNPA2B1 or Hrb98DE in fly muscle resulted in progressive, age-dependent cytoplasmic inclusion pathology, as observed in humans with hnRNPA2B1-related myopathy. Cytoplasmic inclusions consisted of hnRNPA2B1 or Hrb98DE protein in association with the stress granule marker ROX8 and additional endogenous RNA-binding proteins (RBPs), suggesting that these pathological inclusions are related to stress granules. Notably, TDP-43 was also recruited to these cytoplasmic inclusions. Remarkably, overexpression of MRJ rescued this phenotype and suppressed the formation of cytoplasmic inclusions, whereas reduction of endogenous MRJ by a classical loss of function allele enhanced it. Moreover, wildtype, but not disease-associated, mutant forms of MRJ interacted with RBPs after heat shock and prevented their accumulation in aggregates. These results indicate both genetic and physical interactions between disease-linked RBPs and DNAJB6/mrj, suggesting etiologic overlap between the pathogenesis of hIBM and LGMD initiated by mutations in hnRNPA2B1 and DNAJB6. - FTD and PSP-like syndrome with a novel TARDBP mutation
Yabe I, Nakano F, Shirai S, Matsushima M, Takahashi I, Sasaki H
Neurology Clin Neurosci, 4, 76, 77, 2016年, [筆頭著者] - 免疫グロブリン大量静注後も残存した難治性疼痛にステロイドパルスが著効したギラン・バレー症候群の1例
長沼亮滋, 阿部 恵, 長井 梓, 平田恵里奈, 上床 尚, 白井慎一, 西村洋昭, 高橋育子, 松島理明, 加納崇裕, 矢部一郎, 佐々木秀直
末梢神経, 27, 337, 2016年 - An SCA14 family with a novel PRKCG mutation.
Yabe I, Kimura M, Shirai S, Takahashi I, Matsushima M, Sasaki H
Neurology Clin Neurosci, 4, 199, 200, 2016年, [査読有り]
英語, 研究論文(学術雑誌) - Significance of the Hemorrhagic Site for Recurrent Bleeding Prespecified Analysis in the Japan Adult Moyamoya Trial
Jun C. Takahashi, Takeshi Funaki, Kiyohiro Houkin, Tooru Inoue, Kuniaki Ogasawara, Jyoji Nakagawara, Satoshi Kuroda, Keisuke Yamada, Susumu Miyamoto
STROKE, 47, 1, 37, 43, LIPPINCOTT WILLIAMS & WILKINS, 2016年01月, [査読有り]
英語, 研究論文(学術雑誌), Background and Purpose The primary results of the Japan Adult Moyamoya Trial revealed the statistically marginal superiority of bypass surgery over medical treatment alone in preventing rebleeding in moyamoya disease. The purpose of this analysis is to test the prespecified subgroup hypothesis that the natural course and surgical effects vary depending on the hemorrhagic site at onset.
Methods The hemorrhagic site, classified as either anterior or posterior, was the only stratifying variable for randomization. Statistical analyses were focused on the assessment of effect modification according to the hemorrhagic site and were based on tests of interaction.
Results Of 42 surgically treated patients, 24 were classified as anterior hemorrhage and 18 as posterior hemorrhage; of 38 medically treated patients, 21 were classified as anterior and 17 as posterior. The hazard ratio of the primary end points (all adverse events) for the surgical group relative to the nonsurgical group was 0.07 (95% confidence interval, 0.01-0.55) for the posterior group, as compared with 1.62 (95% confidence interval, 0.39-6.79) for the anterior group (P=0.013 for interaction). Analysis within the nonsurgical group revealed that the incidence of the primary end point was significantly higher in the posterior group than in the anterior group (17.1% per year versus 3.0% per year; hazard ratio, 5.83; 95% confidence interval, 1.60-21.27).
Conclusions Careful interpretation of the results suggests that patients with posterior hemorrhage are at higher risk of rebleeding and accrue greater benefit from surgery, subject to verification in further studies. - 眼球運動のviscosite (slow eye movement)
白井 慎一, 矢部 一郎, 田中 直樹, 佐々木 秀直
神経内科, 85, 51, 55, 2016年, [査読有り]
日本語, 研究論文(学術雑誌) - 脊髄小脳変性症の治療の進歩 2015
矢部 一郎, 佐々木 秀直
神経治療学, 33, 4, 522, 528, 日本神経治療学会, 2016年, [査読有り]
日本語, 研究論文(学術雑誌),We reviewed the recent advances in therapeutics of spinocerebellar degeneration and multiple system atrophy that were published in 2015. Various clinical trials were carried out in 2015. However, the therapeutic reports did not provide much evidence. Some interesting clinical trials were reported, and further developments are expected. The therapeutic studies investigating a new pathomechanism were reported in animal and/or cell culture studies. We expect that these results will be translated to patients with these disorders.
- Influence of urinary urgency and other urinary disturbances on falls in Parkinson's disease
Ken Sakushima, Shin Yamazaki, Shingo Fukuma, Yasuaki Hayashino, Ichiro Yabe, Shunichi Fukuhara, Hidenao Sasaki
JOURNAL OF THE NEUROLOGICAL SCIENCES, 360, 153, 157, ELSEVIER SCIENCE BV, 2016年01月, [査読有り]
英語, 研究論文(学術雑誌), Introduction: Falling is one of the most common and serious public health problems. It can cause injuries such as sprains and fractures, and hospitalization may be required for serious injuries. Patients with Parkinson's disease have a higher risk of falls, and urinary incontinence is a known risk factor for falls in the elderly. However, whether other urinary disturbances contribute to the risk of falling remains unclear. The purpose of this study was to identify the association between falls and urinary disturbances in Parkinson's disease.
Methods: A prospective cohort study was conducted at a single institution with a 6-month observation period. Subjects were ambulatory patients with Parkinson's disease. Assessments included patient demographics, disease severity measured by the Hoehn and Yahr scale, and urinary disturbances measured using the overactive bladder symptom score (OABSS). Falls were reported using a self-documented fall record.
Results: A total of 97 patients were included. Forty-four subjects experienced one or more falls during the observation period. The frequency of urination was not related to falling; however, mild urinary urgency, but not severe urinary urgency, increased the risk of falls by an odds ratio of 5.14 (95% confidence interval: 1.51-17.48). Mild urinary urgency was also associated with the time to the first fall and the frequency of falls. One third of falls occurred in the living room, and 13.8% of falls occurred on the way to/from the toilet.
Conclusion: Falls in patients with Parkinson's disease might be associated with urinary urgency, but not with the frequency of urination. (C) 2015 Elsevier B.V. All rights reserved. - 球脊髄性筋萎縮症患者に対するリュープロレリン酢酸塩長期使用の効果
橋詰 淳, 勝野 雅央, 鈴木 啓介, 坂野 晴彦, 須賀 徳明, 矢部 一郎, 青木 正志, 森田 光哉, 金井 数明, 水澤 英洋, 山本 知孝, 長谷川 一子, 西澤 正豊, 宮嶋 裕明, 苅田 典生, 中島 健二, 辻野 彰, 内野 誠, 田中 章景, 祖父江 元
臨床神経学, 55, Suppl., S200, S200, (一社)日本神経学会, 2015年12月
日本語 - Epidemiology of Multiple System Atrophy in Hokkaido, the Northernmost Island of Japan
Ken Sakushima, Naoki Nishimoto, Masanori Nojima, Masaaki Matsushima, Ichiro Yabe, Norihiro Sato, Mitsuru Mori, Hidenao Sasaki
CEREBELLUM, 14, 6, 682, 687, SPRINGER, 2015年12月, [査読有り]
英語, 研究論文(学術雑誌), Multiple system atrophy (MSA) is an intractable neurodegenerative disorder that is characterized by various combinations of autonomic failure, cerebellar ataxia, and parkinsonism. We conducted an epidemiological study of MSA using the combined data of a national registry system and a postal survey in Hokkaido, Japan. A postal survey was conducted in 2013 based on national registry data from 2006 to 2011. This survey contained the current status of each patient with MSA that had been collected from attending physicians and recorded into a national registry. Survey items included date, outcomes, primary symptoms, and activities of daily living at the last medical examination. Confirmation data of the diagnosis by a board-certified neurologist was also collected. Based on the national registry data, 1,092 patients with MSA were selected as our target population. The response rate of the postal survey was 81 % (885/1,092). After excluding inappropriate responses, 839 patients with MSA were analyzed. Forty-nine percent of the patients were male, and the mean onset age was 62.1 +/- 10.4 years. A Kaplan-Meier survival curve revealed that patients with onset symptoms of cerebellar ataxia had a better prognosis than those with onset of parkinsonism or autonomic failure (p < 0.01). Additionally, we found that a higher onset age was associated with poor prognosis. We found that patients with cerebellar ataxia at onset had a better survival prognosis than those with parkinsonism or autonomic failure at onset and that patients with an older age at onset had a worse survival prognosis. - Quantitative evaluation of gait ataxia by accelerometers
Shinichi Shirai, Ichiro Yabe, Masaald Matsushima, Yoichi M. Ito, Mitsuru Yoneyama, Hidenao Sasaki
JOURNAL OF THE NEUROLOGICAL SCIENCES, 358, 1-2, 253, 258, ELSEVIER SCIENCE BV, 2015年11月, [査読有り]
英語, 研究論文(学術雑誌), An appropriate biomarker for spinocerebellar degeneration (SCD) has not been identified. Here, we performed gait analysis on patients with pure cerebellar type SCD and assessed whether the obtained data could be used as a neurophysiological biomarker for cerebellar ataxia. We analyzed 25 SCD patients, 25 patients with Parkinson's disease as a disease control, and 25 healthy control individuals. Acceleration signals during 6 min of walking and 1 min of standing were measured by two sets of triaxial accelerometers that were secured with a fixation vest to the middle of the lower and upper back of each subject. We extracted two gait parameters, the average and the coefficient of variation of motion trajectory amplitude, from each acceleration component. Then, each component was analyzed by correlation with the Scale for the Assessment and Rating of Ataxia (SARA) and the Berg Balance Scale (BBS). Compared with the gait control of healthy subjects and concerning correlation with severity and disease specificity, our results suggest that the average amplitude of medial-lateral (upper back) of straight gait is a physiological biomarker for cerebellar ataxia. Our results suggest that gait analysis is a quantitative and concise evaluation scale for the severity of cerebellar ataxia. (C) 2015 Elsevier B.V. All rights reserved. - Identification of plasma microRNAs as a biomarker of sporadic Amyotrophic Lateral Sclerosis
Ikuko Takahashi, Yuka Hama, Masaaki Matsushima, Makoto Hirotani, Takahiro Kano, Hideki Hohzen, Ichiro Yabe, Jun Utsumi, Hidenao Sasaki
MOLECULAR BRAIN, 8, 1, 67, 67, BIOMED CENTRAL LTD, 2015年10月, [査読有り]
英語, 研究論文(学術雑誌), Background: Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease, which leads to the loss of upper and lower motor neurons, with a currently unknown etiology. Specific biomarkers could help in early detection and diagnosis, and could also act as indicators of disease progression and therapy effectiveness. MicroRNAs (miRNAs) are small (18-25 nucleotides), single-stranded non-coding RNA molecules that play important regulatory roles in animals and plants by targeting mRNAs for cleavage or translational repression, and are essential for nervous system development. Many of the genes associated with genetic ALS have pathological biological pathways related to RNA metabolism, and their pathogenesis may be affecting the maturing processes of miRNA.
Results: We compared miRNA from the plasma of sALS patients and healthy controls using two cohorts; a discovery cohort analyzed with microarray (16 sALS patients and ten healthy controls) and a validation cohort confirmed with qPCR (48 sALS patients, 47 healthy controls and 30 disease controls). We measured the total amount of extracted RNA along with a spike-in control that ensured the quality of our quantification. A percentage of the 10-40 nt RNAs extracted from the total RNA showed a significant increase in ALS patients. There was a negative correlation between total RNA concentration and disease duration from onset to end point. Three of the miRNAs were up-regulated and six were down-regulated significantly in the discovery cohort. Since an internal control is required as a sample stability indicator of both the patients and controls in microarray analysis, we selected the miRNA showing the smallest dispersion and equivalency between the two groups' mean value, and decided to use hsa-miR-4516. We found hsa-miR-4649-5p to be up-regulated, and hsa-miR-4299 to be down-regulated, where each was not influenced by clinical characteristics. EPHA4, a target gene linked to the nervous system which has also been reported to be a disease modifier of ALS, is the common and most notable target gene of hsa-miR-4649-5p and hsa-miR-4299.
Conclusion: We have shown the relationship circulating plasma miRNA has with both healthy controls and diseased patients. Hsa-miR-4649-5p and hsa-miR-4299 have the potential to be ALS diagnosis biomarkers. - PES症候群を呈しMAPT遺伝子異常を認めたFTDP-17の1例
浦 茂久, 長沼 亮滋, 黒島 研美, 吉田 一人, 大槻 美佳, 池田 将樹, 矢部 一郎, 佐々木 秀直
Dementia Japan, 29, 3, 402, 402, (一社)日本認知症学会, 2015年09月
日本語 - PES症候群を呈したFTDP-17の1例
浦 茂久, 長沼 亮滋, 黒島 研美, 吉田 一人, 池田 将樹, 大槻 美佳, 矢部 一郎, 佐々木 秀直
日本神経心理学会総会プログラム・予稿集, 39回, 144, 144, 日本神経心理学会, 2015年08月
日本語 - Variants associated with Gaucher disease in multiple system atrophy
Jun Mitsui, Takashi Matsukawa, Hidenao Sasaki, Ichiro Yabe, Masaaki Matsushima, Alexandra Duerr, Alexis Brice, Hiroshi Takashima, Akio Kikuchi, Masashi Aoki, Hiroyuki Ishiura, Tsutomu Yasuda, Hidetoshi Date, Budrul Ahsan, Atsushi Iwata, Jun Goto, Yaeko Ichikawa, Yasuo Nakahara, Yoshio Momose, Yuji Takahashi, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Takamichi Hattori, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Tomoyoshi Kondo, Shigeo Murayama, Nobutaka Hattori, Mitsutoshi Yamamoto, Miho Murata, Wataru Satake, Tatsushi Toda, Alessandro Filla, Thomas Klockgether, Ullrich Wuellner, Garth Nicholson, Sid Gilman, Caroline M. Tanner, Walter A. Kukull, Mathew B. Stern, Virginia M. -Y. Lee, John Q. Trojanowski, Eliezer Masliah, Phillip A. Low, Paola Sandroni, Laurie J. Ozelius, Tatiana Foroud, Shoji Tsuji
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2, 4, 417, 426, WILEY-BLACKWELL, 2015年04月, [査読有り]
英語, 研究論文(学術雑誌), Objective: Glucocerebrosidase gene (GBA) variants that cause Gaucher disease are associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB). To investigate the role of GBA variants in multiple system atrophy (MSA), we analyzed GBA variants in a large case-control series. Methods: We sequenced coding regions and flanking splice sites of GBA in 969 MSA patients (574 Japanese, 223 European, and 172 North American) and 1509 control subjects (900 Japanese, 315 European, and 294 North American). We focused solely on Gaucher-disease-causing GBA variants. Results: In the Japanese series, we found nine carriers among the MSA patients (1.65%) and eight carriers among the control subjects (0.89%). In the European series, we found three carriers among the MSA patients (1.35%) and two carriers among the control subjects (0.63%). In the North American series, we found five carriers among the MSA patients (2.91%) and one carrier among the control subjects (0.34%). Subjecting each series to a Mantel-Haenszel analysis yielded a pooled odds ratio (OR) of 2.44 (95% confidence interval [CI], 1.14-5.21) and a P-value of 0.029 without evidence of significant heterogeneity. Logistic regression analysis yielded similar results, with an adjusted OR of 2.43 (95% CI 1.15-5.37) and a P-value of 0.022. Subtype analysis showed that Gaucher-disease-causing GBA variants are significantly associated with MSA cerebellar subtype (MSA-C) patients (P = 7.3 9 10(-3)). Interpretation: The findings indicate that, as in PD and DLB, Gaucher-disease-causing GBA variants are associated with MSA. - Rare frequency of downbeat positioning nystagmus in spinocerebellar ataxia type 31
Ichiro Yabe, Masaaki Matsushima, Kunihiro Yoshida, Kinya Ishikawa, Shinichi Shirai, Ikuko Takahashi, Hidenao Sasaki
JOURNAL OF THE NEUROLOGICAL SCIENCES, 350, 1-2, 90, 92, ELSEVIER SCIENCE BV, 2015年03月, [査読有り]
英語, 研究論文(学術雑誌), Spinocerebellar ataxia type 31 (SCA31) and spinocerebellar ataxia type 6 (SCA6) are the most frequent types of spinocerebellar degeneration in Japan. Previous reports described that it was difficult to distinguish SCA6 and SCA31 in clinical situations. There is not much difference except that the onset age of SCA31 is slightly higher than that of SCA6. Therefore we surveyed our medical records retrospectively, and then compared clinical symptoms of SCA6 and SCA31. As previously stated, the onset age of SCA31 is higher than that of SCA6. Gaze-evoked nystagmus is more frequent in SCA6 than in SCA31. The percentage in downbeat positioning nystagmus (DPN) is as high as 63% in SCA6. In contrast DPN in SCA31 is rare and subtle. Our study suggests that the presence of DPN is an important sign that can differentiate SCA6 from SCA31 clinically. (C) 2015 Elsevier B.V. All rights reserved. - 孤発性筋萎縮性側索硬化症における上行性感覚路のDTI解析
清水 幸衣, 藤間 憲幸, 塚原 亜希子, 工藤 與亮, 矢部 一郎, 廣谷 真, 佐々木 秀直, Tha KhinKhin, 白土 博樹
Japanese Journal of Radiology, 33, Suppl., 9, 9, (公社)日本医学放射線学会, 2015年02月
日本語 - Level of plasma neuregulin-1 SMDF is reduced in patients with idiopathic Parkinson's disease
Yuka Hama, Ichiro Yabe, Koichi Wakabayashi, Takahiro Kano, Makoto Hirotani, Yuriko Iwakura, Jun Utsumi, Hidenao Sasaki
NEUROSCIENCE LETTERS, 587, 17, 21, ELSEVIER IRELAND LTD, 2015年02月, [査読有り]
英語, 研究論文(学術雑誌), Parkinson's disease (PD) is characterised by the progressive loss of dopaminergic neurons, neurons that are regulated by the development, protection and function of neuregulin-1 (NRG1)-ErbB4 signals, in the substantia nigra (SN). NRG1 is a neurotrophic differentiation factor and one of its isoforms is a sensory and motor neuron-derived factor (SMDF), mostly expressed in neurons. To examine the relationship between NRG1 SMDF and PD, we tested whether NRG1 SMDF can be detected and measured in plasma and whether their level in plasma correlates with the clinical severity of PD. We detected NRG1 SMDF to be immunoreactive in plasma. Using an ELISA method specific for NRG1 SMDF, we found that NRG1 SMDF levels were significantly reduced in sporadic PD as compared to controls. However, levels of plasma NRG1 SMDF showed no correlation with the clinical severity of PD. Additionally, we found that there was a correlation of NRG1 SMDF levels in CSF with that in plasma where levels in plasma were significantly higher, at approximately ten times that in CSF. Finally, we also examined the expression of NRG1 SMDF in the post-mortem brain using immunohistochemistry and showed that Lewy bodies in the SN of patients with PD were immunoreactive for NRG1 SMDF. In summary, we found that the reduction of plasma NRG1 SMDF is specifically associated with PD, but has no correlation with the clinical severity of PD. These findings of NRG1 SMDF may provide important complementary information for diagnosing the onset of PD. (C) 2014 Elsevier Ireland Ltd. All rights reserved. - Importance of T1-MRI enhanced pyramidal tracts in differential diagnosis as to paraneoplastic encephalomyelitis
Yaguchi H, Tsuzaka K, Shirai S, Niino M, Takahashi T, Tanaka K, Yabe I, Sasaki H
Clin neurol Neurosurg, 132, 9, 11, 2015年, [査読有り] - 出生前診断と生命倫理
山田崇弘, 柴田有花, 矢部一郎
小児内科, 47, 10, 13, 2015年, [招待有り]
日本語, 研究論文(学術雑誌) - 脊髄小脳変性症の薬物療法
矢部 一郎
医学のあゆみ, 255, 1062, 1066, 2015年, [査読有り]
日本語, 研究論文(学術雑誌) - 姿勢・歩行 Something new?—病態;小脳機能障害
矢部 一郎, 佐々木 秀直
Clinical Neuroscience, 33, 811, 813, 2015年, [査読有り]
日本語, 研究論文(学術雑誌) - 脊髄小脳変性症の治療の進歩 2014
矢部 一郎, 佐々木 秀直
神経治療学, 32, 470, 474, 2015年, [査読有り]
日本語, 研究論文(学術雑誌) - Japanese POEMS syndrome with Thalidomide (J-POST) Trial: study protocol for a phase II/III multicentre, randomised, double-blind, placebo-controlled trial
Kanako Katayama, Sonoko Misawa, Yasunori Sato, Gen Sobue, Ichiro Yabe, Osamu Watanabe, Masatoyo Nishizawa, Susumu Kusunoki, Seiji Kikuchi, Ichiro Nakashima, Shu-ichi Ikeda, Nobuo Kohara, Takashi Kanda, Jun-ichi Kira, Hideki Hanaoka, Satoshi Kuwabara
BMJ OPEN, 5, 1, e007330, BMJ PUBLISHING GROUP, 2015年, [査読有り]
英語, 研究論文(学術雑誌), Introduction: Polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes (POEMS) syndrome is a fatal systemic disorder associated with plasma cell dyscrasia and the overproduction of the vascular endothelial growth factor (VEGF). Recently, the prognosis of POEMS was substantially improved by introduction of therapeutic intervention for myeloma. However, no randomised clinical trial has been performed because of the rarity and severity of the disease.
Methods and analysis: The Japanese POEMS syndrome with Thalidomide (J-POST) Trial is a phase II/III multicentre, double-blinded, randomised, controlled trial that aims to evaluate the efficacy and safety of a 24-week treatment with thalidomide in POEMS syndrome, with an additional 48-week open-label safety study. Adults with POEMS syndrome who have no indication for transplantation are assessed for eligibility at 12 tertiary neurology centres in Japan. Patients who satisfy the eligibility criteria are randomised (1:1) to receive thalidomide (100-300 mg daily) plus dexamethasone (12 mg/m(2) on days 1-4 of a 28-day cycle) or placebo plus dexamethasone. Both treatments were administered for 24 weeks (six cycles; randomised comparative study period). Patients who complete the randomised study period or show subacute deterioration during the randomised period participate in the subsequent 48-week open-label safety study (long-term safety period). The primary end point of the study is the reduction rate of serum VEGF levels at 24 weeks.
Ethics and dissemination: The protocol was approved by the Institutional Review Board of each hospital. The trial was notified and registered at the Pharmaceutical and Medical Devices Agency, Japan (No. 22-1716). The J-POST Trial is currently ongoing and is due to finish in August 2015. The findings of this trial will be disseminated through peer-reviewed publications and conference presentations and will also be disseminated to participants. - A case of anti-PL7 antibody positive myositis and a clinical and pathological review of the anti-synthetase syndrome
Masaaki Matsushima, Yuka Shimizu, Ikuko Takahashi, Kazunori Sato, Makoto Hirotani, Takahiro Kano, Ichiro Yabe, Hidenao Sasaki
Clinical Neurology, 55, 11, 810, 815, Societas Neurologica Japonica, 2015年, [査読有り]
日本語, A 52-year-old woman was admitted to our hospital with muscle pain and an elevated creatine kinase level. She had experienced wrist pain at onset seven years ago. The initial possible diagnoses were rheumatoid arthritis and adult-onset Still disease. The patient received corticosteroid and immunosuppressant therapy but experienced deterioration of symptoms. The symptoms of muscle pain and mild creatine kinase elevation emerged four years prior to her visit. Further elevation of creatine kinase was observed for three months before her visit despite adjusting the immunosuppressant dose. On admission, she presented with muscle moderate weakness of the trunk and extremities and pain of the shoulder and medial thigh muscles. Elevation of muscle enzymes and inflammatory response were also detected, and the anti-PL7 antibody was positive. Muscle biopsy from biceps brachii revealed necrotizing myopathy with necrotic and regenerated muscle fibers. The final diagnosis was anti-PL7 antibody positive myositis. The patient was treated with a higher dose of prednisolone and an adequate dose of tacrolimus. Following this treatment, the symptoms were improved. Anti-ARS (aminoacyl t-RNA synthetase) antibodies such as anti-PL7 antibody are useful in diagnosis and for prognostic prediction. Further investigation of patients with anti-ARS antibodies positive myositis is required. - 下肢痙縮に対し髄腔内バクロフェン療法(ITB療法)を施行した3例
笹森 徹, 関 俊隆, 宝金 清博, 加納 崇裕, 矢部 一郎, 佐々木 秀直
北海道整形災害外科学会雑誌, 56, 1, 151, 151, 北海道整形災害外科学会, 2014年12月
日本語 - Usefulness of C-11-methionine-positron emission tomography for the diagnosis of progressive multifocal leukoencephalopathy
Shinichi Shirai, Ichiro Yabe, Takahiro Kano, Yuka Shimizu, Toru Sasamori, Kazunori Sato, Makoto Hirotani, Takayuki Nonaka, Ikuko Takahashi, Masaaki Matsushima, Naoya Minami, Kazuo Nakamichi, Masayuki Saijo, Kanako C. Hatanaka, Tohru Shiga, Shinya Tanaka, Hidenao Sasaki
JOURNAL OF NEUROLOGY, 261, 12, 2314, 2318, SPRINGER HEIDELBERG, 2014年12月, [査読有り]
英語, 研究論文(学術雑誌), Progressive multifocal leukoencephalopathy (PML) is a subacute demyelinating disease of the brain caused by the JC virus that occurs mainly in immunocompromised patients. The prognosis is very poor. As the lesion looks like non- specific leukoencephalopathy, making a diagnosis at the early stage is very difficult. We report three PML cases in which there was a mismatch between C-11-methionine-positron emission tomography (MET-PET) uptake and F-18-fluorodeoxyglucose-positron emission tomography (FDG-PET) uptake. All three cases demonstrated the hyper-uptake of MET around the white matter lesions and hypo-uptake of FDG inside the lesions. We speculate that the infection had ended inside the white matter lesions of these patients, while JC virus infection was ongoing around the lesions, resulting in the increase of methionine metabolism, and the glucose metabolism was reduced or intermediate because inflammatory cells infiltrate PML lesions rarely. Two patients who were diagnosed and treated with mefloquine while the JC virus was at a low level in the cerebrospinal fluid are still alive. We suggest the usefulness of MET-PET for the early diagnosis of PML and early treatment with mefloquine. - Pathology of frontotemporal dementia with limb girdle muscular dystrophy caused by a DNAJB6 mutation
Ichiro Yabe, Mishie Tanino, Hiroaki Yaguchi, Akihiro Takiyama, Huaying Cai, Hiromi Kanno, Ikuko Takahashi, Yukiko K. Hayashi, Masashi Watanabe, Hidehisa Takahashi, Shigetsugu Hatakeyama, Shinya Tanak, Hidenao Sasaki
CLINICAL NEUROLOGY AND NEUROSURGERY, 127, 10, 12, ELSEVIER SCIENCE BV, 2014年12月, [査読有り]
英語, 研究論文(学術雑誌) - Reliability of the Japanese version of the scales for outcomes in Parkinson's disease-autonomic questionnaire
Masaaki Matsushima, Ichiro Yabe, Makoto Hirotani, Takahiro Kano, Hidenao Sasaki
CLINICAL NEUROLOGY AND NEUROSURGERY, 124, 182, 184, ELSEVIER SCIENCE BV, 2014年09月, [査読有り]
英語, 研究論文(学術雑誌), Objective: The Scales for Outcomes in Parkinson's Disease-Autonomic (SCOPA-AUT) questionnaire was used to assess autonomic dysfunction in patients with neurological disorders. The aim of this study was to evaluate the reliability of the Japanese version of the SCOPA-AUT.
Methods: We translated the SCOPA-AUT from English to Japanese. Thirty-one patients with diseases involving autonomic symptoms completed the form twice. The reliability was assessed by Cronbach's coefficient alphas and intraclass correlation coefficients (ICCs).
Results: The average (standard deviation, SD) total scores of the first and second assessments of the SCOPA-AUT were 15.7 (SD, 7.1) and 13.6 (SD, 6.5), respectively. The Cronbach's coefficient alphas were globally high, but the ICCs were moderately high. The valid response rates for the questions about sexual dysfunction were 36.7% in men and 26.6% in women.
Conclusions: The Japanese version of the SCOPA-AUT had high internal consistency. However, the questions about sexual dysfunction showed less valid response rates. (C) 2014 Elsevier B.V. All rights reserved. - A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan
Kenichi Yasui, Ichiro Yabe, Kunihiro Yoshida, Kazuaki Kanai, Kimihito Arai, Mizuki Ito, Osamu Onodera, Shigeru Koyano, Eiji Isozaki, Setsu Sawai, Yoshiki Adachi, Hidenao Sasaki, Satoshi Kuwabara, Takamichi Hattori, Gen Sobue, Hidehiro Mizusawa, Shoji Tsuji, Masatoyo Nishizawa, Kenji Nakashima
ORPHANET JOURNAL OF RARE DISEASES, 9, 118, BIOMED CENTRAL LTD, 2014年07月, [査読有り]
英語, 研究論文(学術雑誌), Background: Only a few prospective studies have determined which clinical symptoms and factors are associated with the disease severity of spinocerebellar ataxia type 6 (SCA6). A multicenter longitudinal cohort study was conducted to clarify both the natural history of SCA6 in Japan and the factors influencing disease progression.
Methods: Patients were consecutively recruited between 2007 and 2008. Scores from the Scale for the Assessment and Rating of Ataxia (SARA) and Barthel Index (BI) were collected prospectively each year. Additionally, data from the Japan intractable diseases research (IDR) registry were collected both retrospectively, from 2003 to 2006, and prospectively, from 2007 to 2010. As a result, we were able to collect 3 years of retrospective data and 4 years of prospective data during the course of 3 yearly visits.
Results: Forty-six patients were registered. The follow-up rate of the third year was 93%. The SARA scores worsened significantly each year. Over 3 years, the decline of the SARA scores was 1.33 +/- 1.40 points/year. The results of multivariate analysis of the decline of the SARA score were not significant. The IDR scores correlated well with the SARA and BI scores. Kaplan-Meier curves of 7 years of data from the IDR registry illustrated the correlation between the ability to walk and the time course of the disease.
Conclusions: Information regarding the progression of ataxia and the decline in the activities of daily living (ADL) in patients with SCA6 was obtained by a 3-year cohort study and a 7-year IDR study. The decline of the SARA score of patients with SCA6 was 1.33 +/- 1.40 points/year. The results elucidate the natural history of SCA6, factors influencing disease severity, and utility of data from the IDR registry of Japan. - Effects of Extracranial-Intracranial Bypass for Patients With Hemorrhagic Moyamoya Disease Results of the Japan Adult Moyamoya Trial
Susumu Miyamoto, Takashi Yoshimoto, Nobuo Hashimoto, Yasushi Okada, Ichiro Tsuji, Teiji Tominaga, Jyoji Nakagawara, Jun C. Takahashi
STROKE, 45, 5, 1415, 1421, LIPPINCOTT WILLIAMS & WILKINS, 2014年05月, [査読有り]
英語, 研究論文(学術雑誌), Background and Purpose About one half of those who develop adult-onset moyamoya disease experience intracranial hemorrhage. Despite the extremely high frequency of rebleeding attacks and poor prognosis, measures to prevent rebleeding have not been established. The purpose of this study is to determine whether extracranial-intracranial bypass can reduce incidence of rebleeding and improve patient prognosis.
Methods This study was a multicentered, prospective, randomized, controlled trial conducted by 22 institutes in Japan. Adult patients with moyamoya disease who had experienced intracranial hemorrhage within the preceding year were given either conservative care or bilateral extracranial-intracranial direct bypass and were observed for 5 years. Primary and secondary end points were defined as all adverse events and rebleeding attacks, respectively.
Results Eighty patients were enrolled (surgical, 42; nonsurgical, 38). Adverse events causing significant morbidity were observed in 6 patients in the surgical group (14.3%) and 13 patients in the nonsurgical group (34.2%). Kaplan-Meier survival analysis revealed significant differences between the 2 groups (3.2%/y versus 8.2%/y; P=0.048). The hazard ratio of the surgical group calculated by Cox regression analysis was 0.391 (95% confidence interval, 0.148-1.029). Rebleeding attacks were observed in 5 patients in the surgical group (11.9%) and 12 in the nonsurgical group (31.6%), significantly different in the Kaplan-Meier survival analysis (2.7%/y versus 7.6%/y; P=0.042). The hazard ratio of the surgical group was 0.355 (95% confidence interval, 0.125-1.009).
Conclusions Although statistically marginal, Kaplan-Meier analysis revealed the significant difference between surgical and nonsurgical group, suggesting the preventive effect of direct bypass against rebleeding.
Clinical Trial Registration URL: http://www.umin.ac.jp/ctr/index.htm. Unique identifier: C000000166. - Reliability of the Japanese Version of the Berg Balance Scale
Masaaki Matsushima, Ichiro Yabe, Hisashi Uwatoko, Shinichi Shirai, Makoto Hirotani, Hidenao Sasaki
INTERNAL MEDICINE, 53, 15, 1621, 1624, JAPAN SOC INTERNAL MEDICINE, 2014年, [査読有り]
英語, 研究論文(学術雑誌), Objective The Japanese translation of the Berg balance scale (BBS) has previously been published; however, its reliability has not yet been validated. This study aimed to evaluate its reliability.
Methods Patients took the BBS test three times; two neurologists monitored the results. The intraclass correlation coefficients (ICCs) and Cronbach's alpha (alpha) coefficients were calculated, and the inter-rater and intra-rater reliability were determined.
Patients Thirty-three patients with balance disturbance were recruited.
Results The study participants included 15 men and 18 women with a mean age of 62.8 years (SD, 14.8). For the total BBS score, the inter-rater ICC and Cronbach's alpha coefficient were 0.9337 and 0.9493, respectively, while the intra-rater ICC and Cronbach's alpha coefficient were 0.9772 and 0.9416, respectively. Most items had a relatively high ICC. The Cronbach's alpha coefficients were more than 0.9 for all items.
Conclusion The Japanese version of the BBS was found to have a high inter-rater and intra-rater reliability and internal consistency. - Identification of anti-Sez612 antibody in a patient with cerebellar ataxia and retinopathy
Hiroaki Yaguchi, Ichiro Yabe, Hidehisa Takahashi, Fumihiko Okumura, Akiko Takeuchi, Kazuhiro Horiuchi, Takahiro Kano, Atsuhiro Kanda, Wataru Saito, Masaki Matsumoto, Keiichi I. Nakayama, Shigetsugu Hatakeyama, Hidenao Sasaki
JOURNAL OF NEUROLOGY, 261, 1, 224, 226, SPRINGER HEIDELBERG, 2014年01月, [査読有り]
英語 - 単純ヘルペス脳炎治療後長期経過した2症例の高次脳機能検査
伊藤 さやか, 佐藤 和則, 廣谷 真, 加納 崇裕, 矢部 一郎, 大槻 美佳, 佐々木 秀直
臨床神経学, 54, 1, 87, 87, (一社)日本神経学会, 2014年01月
日本語 - 非定型的な経過をとったパーキンソン病患者におけるフォレルH野刺激の効果と副作用
北川 まゆみ, 加納 崇裕, 笹森 徹, 矢部 一郎, 佐々木 秀直
臨床神経学, 54, 1, 89, 89, (一社)日本神経学会, 2014年01月
日本語 - 脊髄小脳変性症〜最近の治療研究について〜
矢部 一郎, 佐々木 秀直
BIO Clinica, 29, 33, 38, 2014年, [査読有り]
日本語, 研究論文(学術雑誌) - Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation
Masako Mukai, Keizo Sugaya, Shiro Matsubara, Huaying Cai, Ichiro Yabe, Hidenao Sasaki, Imaharu Nakano
Clinical Neurology, 54, 5, 417, 422, Societas Neurologica Japonica, 2014年, [査読有り]
日本語, 研究論文(学術雑誌), Multiple mitochondrial DNA (mtDNA) deletions usually occur secondarily to a mutation in one of the enzymes involved in mtDNA maintenance, such as polymerase y, which is encoded by the nuclear polymerase γ1 gene (POLG1) and POLG2. Patients with multiple mtDNA deletion disorders show clinical heterogeneity of symptoms, in addition to usually seen progressive external ophthalmoplegia (PEO). We conducted clinical, histological and genetic analyses of two affected sisters in a family with the autosomal dominant inheritance pattern of PEO. A 73-year-old woman (patient 1) with congenital hypogonadism and PEO developed L-dopa responsive parkinsonism about the age of 60. Neurological examination revealed mild proximal muscle weakness and polyneuropathy too. Her 69-year-old sister (patient 2) also showed PEO, parkinsonism and polyneuropathy. Histopathological studies of biopsied muscle specimens from patient 1 revealed numerous ragged red fibers as well as fibers with increased succinate dehydrogenase activity and decreased cytochrome c oxidase activity. Multiple mtDNA deletions were detected, both by Southern blot and long-range PCR assays of total DNA from the biopsied muscle specimens. A systemic mutational analysis in both sisters revealed a heterozygous p.Y955C (c.2864A>
G) mutation in POLG1. This is the first Japanese family identified with this mutation. We reviewed cases with this mutation highlighting a wide phenotypic spectrum of this disorder. - Neuromelanin MRI in a family with mitochondrial parkinsonism harboring a Y955C mutation in POLG1
Masako Mukai, Keizo Sugaya, Ichiro Yabe, Yu-ichi Goto, Fusako Yokochi, Kazuhito Miyamoto, Huaying Cai, Hidenao Sasaki, Shiro Matsubara
PARKINSONISM & RELATED DISORDERS, 19, 9, 821, 824, ELSEVIER SCI LTD, 2013年09月, [査読有り]
英語, 研究論文(学術雑誌), Background: Progressive external ophthalmoplegia (PEO) and parkinsonism can be caused by genetic mutations that affect mitochondrial DNA (mtDNA) maintenance. We characterized parkinsonism in a family with dominantly inherited PEO.
Methods: We conducted clinical, histological and genetic analyses on two affected members suffering from PEO and parkinsonism, and reviewed the cases in the literature. To clarify parkinsonism related to multiple mtDNA deletions, we used 3-T neuromelanin magnetic resonance imaging (MRI) to assess signal changes in the substantia nigra (SN) and locus ceruleus (LC) in our patients, and compared the results to those observed in idiopathic Parkinson's disease (iPD) (n = 35).
Results: We report the first case of a Japanese family harboring a heterozygous p.Y955C mutation in POLG1. The clinical features of parkinsonism related to the Y955C mutation in a total of 16 patients, including our two cases, are indistinguishable from iPD. However, neuromelanin MRI showed a distinct pattern in our cases compared to iPD. The neuromelanin imaging results were consistent with the neuropathological findings reported in cases of POLG1 mutations, in which neurons of the SN were profoundly affected while those in the LC were preserved.
Conclusions: Our results suggest that 3-T neuromelanin MRI may be useful for differentiating POLG1 mutation-associated parkinsonism from iPD, and that POLG1 mutations may cause selective neuronal loss in the SN via a mechanism different from that of iPD. (C) 2013 Elsevier Ltd. All rights reserved. - Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy
Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Yoko Fukuda, Yaeko Ichikawa, Hidetoshi Date, Budrul Ahsan, Yasuo Nakahara, Yoshio Momose, Yuji Takahashi, Atsushi Iwata, Jun Goto, Yorihiro Yamamoto, Makiko Komata, Katsuhiko Shirahige, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hiroshi Takashima, Ryozo Kuwano, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Hiroyuki Soma, Ichiro Yabe, Hidenao Sasaki, Masashi Aoki, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Takamichi Hattori, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Tomoyoshi Kondo, Shigeo Murayama, Nobutaka Hattori, Mitsutoshi Yamamoto, Miho Murata, Wataru Satake, Tatsushi Toda, Alexandra Duerr, Alexis Brice, Alessandro Filla, Thomas Klockgether, Ullrich Wuellner, Garth Nicholson, Sid Gilman, Clifford W. Shults, Caroline M. Tanner, Walter A. Kukull, Virginia M. -Y. Lee, Eliezer Masliah, Phillip A. Low, Paola Sandroni, John Q. Trojanowski, Laurie Ozelius, Tatiana Foroud, Shoji Tsuji
NEW ENGLAND JOURNAL OF MEDICINE, 369, 3, 233, 244, MASSACHUSETTS MEDICAL SOC, 2013年07月, [査読有り]
英語, 研究論文(学術雑誌), Background
Multiple-system atrophy is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. Although multiple-system atrophy is widely considered to be a nongenetic disorder, we previously identified multiplex families with this disease, which indicates the involvement of genetic components.
Methods
In combination with linkage analysis, we performed whole-genome sequencing of a sample obtained from a member of a multiplex family in whom multiple-system atrophy had been diagnosed on autopsy. We also performed mutational analysis of samples from members of five other multiplex families and from a Japanese series (363 patients and two sets of controls, one of 520 persons and one of 2383 persons), a European series (223 patients and 315 controls), and a North American series (172 patients and 294 controls). On the basis of these analyses, we used a yeast complementation assay and measured enzyme activity of parahydroxybenzoate-polyprenyl transferase. This enzyme is encoded by the gene COQ2 and is essential for the biosynthesis of coenzyme Q(10). Levels of coenzyme Q(10) in lymphoblastoid cells and brain tissue were measured on high-performance liquid chromatography.
Results
We identified a homozygous mutation (M78V-V343A/M78V-V343A) and compound heterozygous mutations (R337X/V343A) in COQ2 in two multiplex families. Furthermore, we found that a common variant (V343A) and multiple rare variants in COQ2, all of which are functionally impaired, are associated with sporadic multiple-system atrophy. The V343A variant was exclusively observed in the Japanese population.
Conclusions
Functionally impaired variants of COQ2 were associated with an increased risk of multiple-system atrophy in multiplex families and patients with sporadic disease, providing evidence of a role of impaired COQ2 activities in the pathogenesis of this disease. (Funded by the Japan Society for the Promotion of Science and others.)
Multiple-system atrophy is a rare neurodegenerative disease characterized by autonomic failure. Mutations affecting an enzyme essential for the synthesis of coenzyme Q10 confer susceptibility to the disease in some persons. - 3D neuromelanin-sensitive magnetic resonance imaging with semi-automated volume measurement of the substantia nigra pars compacta for diagnosis of Parkinson’s disease.
Ogisu, K, Kudo, K, Sasaki, M, Sakushima, K, Yabe, I, Sasaki, H, Terae, S, Nakanishi, M, Shirato, H
Neuroradiolgy, 55, 6, 719, 24, 2013年06月, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), INTRODUCTION: Neuromelanin-sensitive MRI has been reported to be used in the diagnosis of Parkinson's disease (PD), which results from loss of dopamine-producing cells in the substantia nigra pars compacta (SNc). In this study, we aimed to apply a 3D turbo field echo (TFE) sequence for neuromelanin-sensitive MRI and to evaluate the diagnostic performance of semi-automated method for measurement of SNc volume in patients with PD. METHODS: We examined 18 PD patients and 27 healthy volunteers (control subjects). A 3D TFE technique with off-resonance magnetization transfer pulse was used for neuromelanin-sensitive MRI on a 3T scanner. The SNc volume was semi-automatically measured using a region-growing technique at various thresholds (ranging from 1.66 to 2.48), with the signals measured relative to that for the superior cerebellar peduncle. Receiver operating characteristic (ROC) analysis was performed at all thresholds. Intra-rater reproducibility was evaluated by intraclass correlation coefficient (ICC). RESULTS: The average SNc volume in the PD group was significantly smaller than that in the control group at all the thresholds (P < 0.01, student t test). At higher thresholds (>2.0), the area under the curve of ROC (Az) increased (0.88). In addition, we observed balanced sensitivity and specificity (0.83 and 0.85, respectively). At lower thresholds, sensitivity tended to increase but specificity reduced in comparison with that at higher thresholds. ICC was larger than 0.9 when the threshold was over 1.86. CONCLUSIONS: Our method can distinguish the PD group from the control group with high sensitivity and specificity, especially for early stage of PD. - Different surgical treatment techniques used by neurosurgeons and orthopedists for syringomyelia caused by Chiari i malformation in Japan
Ken Sakushima, Kazutoshi Hida, Ichiro Yabe, Satoshi Tsuboi, Ritei Uehara, Hidenao Sasaki
J Neurosurg Spine, 18, 6, 588, 592, 2013年06月, [査読有り]
英語, 研究論文(学術雑誌), Object. Syringomyelia is a rare disease commonly caused by Chiari I malformation. Surgery by neurosurgeons and orthopedists is a critical treatment for symptomatic patients, and surgical techniques are associated with improved symptoms for these patients. The aim of this study was to determine the different surgical techniques used by neurosurgeons and orthopedists in Japan to treat syringomyelia caused by Chiari I malformation. Methods. Patients who had undergone a surgical treatment were identified from a 2-stage postal survey conducted in late 2009. The authors compared the type of surgery performed and its association with cavity size reduction, on the basis of whether patients were receiving care in a neurosurgery or orthopedics department. Results. A total of 232 patients with syringomyelia caused by Chiari I malformation were included in this study. Two-thirds of patients were treated in a neurosurgery department and the other third in an orthopedics department. Neurosurgeons preferred foramen magnum decompression (FMD) with dural patch grafting, and orthopedists preferred FMD with dural dissection. Foramen magnum decompression with dural patch grafting was associated with better outcomes than was dural dissection with regard to the following: motor impairment (66% vs 39%, p <
0.05), sensory disturbance (60% vs 43%, p = 0.051), pain (67% vs 47%, p <
0.05), and cavity size (74% vs 58%, p <
0.05). Improved motor function was associated more with cavity size reduction than with sensory disturbance and pain. Conclusions. Surgical procedures and outcomes differed, depending on whether the patient's care was managed in a neurosurgery or orthopedics department. Outcomes were better after FMD with dural patch grafting. © 2013 AANS. - H-1-MRS and P-31-MRS findings in Machado-Joseph disease
I. Yabe, K. K. Tha, H. Hamaguchi, K. Sakushima, T. Kano, S. Terae, H. Sasaki
MOVEMENT DISORDERS, 28, S235, S235, WILEY-BLACKWELL, 2013年06月, [査読有り]
英語 - Brain Regions Associated With Cognitive Impairment in Patients With Parkinson Disease Quantitative Analysis of Cerebral Blood Flow Using I-123 Iodoamphetamine SPECT
Naoya Hattori, Ichiro Yabe, Kenji Hirata, Tohru Shiga, Ken Sakushima, Sachiko Tsuji-Akimoto, Hidenao Sasaki, Nagara Tamaki
CLINICAL NUCLEAR MEDICINE, 38, 5, 315, 320, LIPPINCOTT WILLIAMS & WILKINS, 2013年05月, [査読有り]
英語, 研究論文(学術雑誌), Purpose: Cognitive impairment is a representative neuropsychiatric presentation that accompanies Parkinson disease (PD). The purpose of this study was to localize the cerebral regions associated with cognitive impairment in patients with PD using quantitative SPECT.
Patients and Methods: Thirty-two patients with PD (mean [SD] age, 75 [8] years; 25 women; Hoehn-Yahr scores from 2 to 5) underwent quantitative brain SPECT using I-123 iodoamphetamine. Parametric images of regional cerebral blood flow (rCBF) were spatially normalized to the standard brain atlas. First, voxel-by-voxel comparison between patients with PD with versus without cognitive impairment was performed to visualize overall trend of regional differences. Next, the individual quantitative rCBF values were extracted in representative cortical regions using a standard region-of-interest template to compare the quantitative rCBF values.
Results: Patients with cognitive impairment showed trends of lower rCBF in the left frontal and temporal cortices as well as in the bilateral medial frontal and anterior cingulate cortices in the voxel-by-voxel analyses. Region-of-interest-based analysis demonstrated significantly lower rCBF in the bilateral anterior cingulate cortices (right, 25.8 [5.5] vs 28.9 [5.7] mL per 100 g/min, P < 0.05; left, 25.8 [5.8] vs 29.1 [5.7] mL per 100 g/min, P < 0.05) associated with cognitive impairment.
Conclusions: Patients with cognitive impairment showed lower rCBF in the left frontal and temporal cortices as well as in the bilateral medial frontal and anterior cingulate cortices. The results suggested dysexecutive function as an underlining mechanism of cognitive impairment in patients with PD. - Efficacy of intravenous cyclophosphamide therapy for neuromyelitis optica spectrum disorder
Hiroaki Yaguchi, Ken Sakushima, Ikuko Takahashi, Hiroaki Nishimura, Moemi Yashima-Yamada, Masakazu Nakamura, Kazufumi Tsuzaka, Yasunori Maruo, Toshiyuki Takahashi, Ichiro Yabe, Hidenao Sasaki
Internal Medicine, 52, 9, 969, 972, 2013年05月01日, [査読有り]
英語, 研究論文(学術雑誌), Objective Neuromyelitis optica (NMO) is an inflammatory disease that affects the optic nerve and spinal cord. Optic neuritis and longitudinally extensive myelitis associated with systemic autoimmune disease have been recently defined as NMO spectrum disorder (NMOSD). In this study, we report the efficacy of intravenous cyclophosphamide (IVCY) therapy for NMOSD. Methods Four patients diagnosed with NMOSD were enrolled in this study. The expanded disability status scale (EDSS) score was used to evaluate the degree of severity. All of the patients received intravenous methylprednisolone (IVMP
1 g/day for three days), and two patients also received plasmapheresis (PP). All of the patients were administered IVCY treatment. Results Anti-AQP4 antibodies were present in the sera of all patients. All patients exhibited longitudinally extensive transverse myelitis (LETM). Only one patient who fulfilled the criteria for a diagnosis of NMO exhibited optic neuritis. Two patients developed relapse under treatment with low-dose prednisolone (PSL) before the administration of IVCY. The patients in this study exhibited a median improvement in the EDSS score following IVCY treatment from 8.0 to 5. 75. Adverse effects were observed in only one patient. Conclusion This study, despite its retrospective design, demonstrated the therapeutic efficacy of IVCY for NMOSD in both the acute and chronic phases of the disease and determined the IVCY dosage for Japanese women with NMOSD. Additionally, this study provided evidence that for NMOSD patients with severe disabilities, IVCY added to IVMP and PP may be a useful therapeutic modality. © 2013 The Japanese Society of Internal Medicine. - DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions
Takatoshi Sato, Yukiko K. Hayashi, Yasushi Oya, Tomoyoshi Kondo, Kazuma Sugie, Daita Kaneda, Hideki Houzen, Ichiro Yabe, Hidenao Sasaki, Satoru Noguchi, Ikuya Nonaka, Makiko Osawa, Ichizo Nishino
NEUROMUSCULAR DISORDERS, 23, 3, 269, 276, PERGAMON-ELSEVIER SCIENCE LTD, 2013年03月, [査読有り]
英語, 研究論文(学術雑誌), DNAJB6, which encodes DnaJ homolog, subfamily B, member 6 (DNAJB6) was recently identified as a causative gene for limb-girdle muscular dystrophy type 1D (LGMD1D). DNAJB6 is a member of heat shock protein 40 and contains a J domain, G/F domain and C-terminal domain. Only three different mutations have been identified in 11 families. In this study, we identified seven Japanese individuals from four unrelated families who carried a DNATB6 mutation. We found a novel p.Phe96Ile substitution and a previously reported p.Phe96Leu change in the G/F domain of DNAJB6. All affected individuals showed slowly progressive muscle weakness, mainly in their legs, and their muscle pathology showed cytoplasmic inclusions and rimmed vacuoles. Our immunohistochemical analysis detected cytoplasmic accumulations associated with chaperone-assisted selective autophagy together with intranuclear accumulations of DNAJB6 and heat shock 22-kD protein 8 (HSPB8). This is the first report of Asian patients with LGMD1D. Our new findings may contribute to understanding the pathological mechanisms of this myopathy. (C) 2013 Elsevier B.V. All rights reserved. - 肢帯型筋ジストロフィー1D型(LGMD1D)の臨床病理学的特徴
林 由起子, 佐藤 孝俊, 大矢 寧, 近藤 智善, 杉江 和馬, 金田 大太, 保前 英希, 矢部 一郎, 佐々木 秀直, 西野 一三
日本内科学会雑誌, 102, Suppl., 189, 189, (一社)日本内科学会, 2013年02月, [査読有り]
日本語 - Plasma matrix metalloproteinase-3 correlates with the clinical severity in men with multiple system atrophy.
Sasaki, H, Matsushima, M, Hama, Y, Nakamura, M, Sakushima, K, Yabe, I, Oba, K, Tanji, K, Mori, F, Wakabayashi, K, Kakita, A, Takahasi, H, Utsumi, J
Neuology Clin Neurosci, 1, 69, 77, 2013年, [査読有り]
英語 - 染色体構造多型—多系統萎縮症でのアプローチ
矢部 一郎, 佐々木 秀直
臨床神経学, 53, 11, 1333, 1335, 2013年, [査読有り]
日本語, 研究論文(学術雑誌), The human genome contains unstable regions that account for 10£\ of the entire genome and are eccentrically located around centromeres and telomeres. They consist of several kb or Mb of genome sequence, and present a variety of alterations that occur during the replication process, such as repetitions, duplications, deletions, and insertions. These structural polymorphisms are called copy number variations (CNV). The mutation rate of CNV is 102-104 times higher than that of single-nucleotide polymorphisms (SNP), and has attracted attention as a basis for sporadic disease. The relationship between CNV and clinical conditions is complicated. While models based on duplication or deletion can be explained as resulting from genetic effect or haploinsufficiency, CNV result in a greater range of transcription anomalies, in addition to that of a gene coded in the region. Recent studies have revealed the mechanisms of transcription and splicing through snRNA and miRNA in the CNV regions. Recently, we experienced discordant monozygotic twin (DMZT) cases in which the patients developed unilateral multiple system atrophy (MSA). Here, we introduced the recent progress regarding CNV and neurodegenerative diseases as it concerns the above DMZT cases and other sporadic MSA cases. - 脊髄小脳変性症の治療の進歩 2012
矢部 一郎, 佐々木 秀直
神経治療学, 30, 411, 415, 2013年, [査読有り]
日本語, 研究論文(学術雑誌) - 筋萎縮性側索硬化症および進行性核上性麻痺における注意機能についての検討
伊藤 さやか, 佐々木 秀直, 矢部 一郎, 秋本 幸子, 大槻 美佳
臨床神経学, 52, 12, 1444, 1444, (一社)日本神経学会, 2012年12月
日本語 - リュープロレリン酢酸塩の球脊髄性筋萎縮症患者に対する第3相長期継続投与試験(JASMITT-07OP試験)
鈴木 啓介, 勝野 雅央, 坂野 晴彦, 須賀 徳明, 橋詰 淳, 矢部 一郎, 青木 正志, 中野 今治, 金井 数明, 水澤 英洋, 山本 知孝, 長谷川 一子, 西澤 正豊, 宮嶋 裕明, 苅田 典生, 中島 健二, 辻野 彰, 内野 誠, 田中 章景, 祖父江 元
臨床神経学, 52, 12, 1484, 1484, (一社)日本神経学会, 2012年12月
日本語 - Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people
Huaying Cai, Ichiro Yabe, Kazunori Sato, Takahiro Kano, Masakazu Nakamura, Hideki Hozen, Hidenao Sasaki
JOURNAL OF NEUROLOGY, 259, 9, 1913, 1922, SPRINGER HEIDELBERG, 2012年09月, [査読有り]
英語, 研究論文(学術雑誌), Previous studies have identified several genetic loci associated with the development of familial inclusion body myopathy. However, there have been few genetic analyses of sporadic inclusion body myositis (sIBM). In order to explore the molecular basis of sIBM and to investigate genotype-phenotype correlations, we performed a clinicopathological analysis of 21 sIBM patients and screened for mutations in the Desmin, GNE, MYHC2A, VCP, and ZASP genes. All coding exons of the five genes were sequenced directly. Definite IBM was confirmed in 14 cases, probable IBM in three cases, and possible IBM in four cases. No cases showed missense mutations in the Desmin, GNE, or VCP genes. Three patients carried the missense mutation c.2542T > C (p.V805A) in the MYHC2A gene; immunohistochemical staining for MYHC isoforms in these three cases showed atrophy or loss of muscle fibers expressing MYHC IIa or IIx. One patient harbored the missense mutation c.1719G > A (p.V566M) in the ZASP gene; immunohistochemical studies of Z-band-associated proteins revealed Z-band abnormalities. Both of the novel heterogeneous mutations were located in highly evolutionarily conserved domains of their respective genes. Cumulatively, these findings have expanded our understanding of the molecular background of sIBM. However, we advocate further clinicopathology and investigation of additional candidate genes in a larger cohort. - Hyperintense putaminal rim at 1.5 T: prevalence in normal subjects and distinguishing features from multiple system atrophy.
Khin K Tha, Satoshi Terae, Akiko Tsukahara, Hiroyuki Soma, Ryo Morita, Ichiro Yabe, Yoichi M Ito, Hidenao Sasaki, Hiroki Shirato
BMC neurology, 12, 39, 39, 2012年06月18日, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), BACKGROUND: Hyperintense putaminal rim (HPR) is an important magnetic resonance imaging (MRI) sign for multiple system atrophy (MSA). Recent studies have suggested that it can also be observed in normal subjects at 3 T. Whether it can be observed in normal subjects at 1.5 T is not known. This study aimed to determine whether HPR could be observed in normal subjects at 1.5 T; and if so, to establish its prevalence, the MRI characteristics, and the features which distinguish from HPR in MSA patients. METHODS: Axial T2-weighted images of 130 normal subjects were evaluated for the prevalence of HPR, its age and gender distribution, laterality, maximum dimension, association with hypointensity of nearby putamen, and presence of discontinuity. To distinguish from that observed in MSA, axial T2-weighted images of 6 MSA patients with predominant parkinsonism (MSA-P) and 15 MSA patients with predominant cerebellar symptoms (MSA-C) were also evaluated. The characteristics of HPR were compared between these patients and age-matched normal subjects. The mean diffusivity (MD) values of putamen were also compared. Fisher's exact test, t-test, and one way analysis of variance were used to determine significance at corrected p < 0.05. RESULTS: HPR was observed in 38.5% of normal subjects. Age and gender predilection and laterality were not observed. In most cases, it occupied the full length or anterior half of the lateral margin of putamen, and was continuous throughout its length. Maximum transverse dimension was 2 mm. There was no association with hypointensity of nearby putamen. However, in MSA-P, HPR was located predominantly at the posterolateral aspect of putamen, and associated with putaminal atrophy. Discontinuity of HPR was more frequently observed in MSA-P. On visual analysis, the characteristics of HPR were similar between MSA-C patients and normal subjects. Patients with MSA of either type had significantly higher MD values of putamen than normal subjects. CONCLUSIONS: HPR can be observed in 38.5% of normal subjects at 1.5 T. Thin linear hyperintensity without discontinuity, occupying the full length or anterior half of the lateral margin of the putamen, is suggestive of "normal." In doubtful cases, measurement of the MD values of nearby putamen may be valuable. - 痙縮に対して髄腔内バクロフェン療法が奏効した3症例
加納 崇裕, 矢部 一郎, 佐々木 秀直, 保前 英希, 青山 剛, 宝金 清博
臨床神経学, 52, 6, 459, 459, (一社)日本神経学会, 2012年06月
日本語 - Writing errors in ALS related to loss of neuronal integrity in the anterior cingulate gyrus
Ichiro Yabe, Sachiko Tsuji-Akimoto, Tohru Shiga, Shinsuke Hamada, Kenji Hirata, Mika Otsuki, Yuji Kuge, Nagara Tamaki, Hidenao Sasaki
JOURNAL OF THE NEUROLOGICAL SCIENCES, 315, 1-2, 55, 59, ELSEVIER SCIENCE BV, 2012年04月, [査読有り]
英語, 研究論文(学術雑誌), Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor neuron and various cognitive deficits including writing errors. C-11-flumazenil (FMZ), the positron emission tomography (PET) GABA(A) receptor ligand, is a marker of cortical dysfunction. The objective of this study was to investigate the relationship between cognitive deficits and loss of neuronal integrity in ALS patients using C-11-FMZ PET. Ten patients with ALS underwent both neuropsychological tests and C-11-FMZ-PET. The binding potential (BP) of FMZ was calculated from C-11-FMZ PET images. There were no significant correlations between the BP and most test scores except for the writing error index (WEI), which was measured by the modified Western Aphasia Battery - VB (WAB-IVB) test. The severity of writing error was associated with loss of neuronal integrity in the bilateral anterior cingulate gyrus with mild right predominance (n = 9; x = 4 mm, y = 36 mm, z = 4 mm, Z = 5.1). The results showed that writing errors in our patients with ALS were related to dysfunction in the anterior cingulate gyrus. (c) 2011 Elsevier B.V. All rights reserved. - Painless legs and moving toes from parasagittal meningioma
Ichiro Yabe, Takahiro Kano, Ken Sakushima, Shunsuke Terasaka, Hidenao Sasaki
MOVEMENT DISORDERS, 27, 4, 586, 587, WILEY-BLACKWELL, 2012年04月, [査読有り]
英語 - Nationwide survey on the epidemiology of syringomyelia in Japan
Ken Sakushima, Satoshi Tsuboi, Ichiro Yabe, Kazutoshi Hida, Satoshi Terae, Ritei Uehara, Imaharu Nakano, Hidenao Sasaki
JOURNAL OF THE NEUROLOGICAL SCIENCES, 313, 1-2, 147, 152, ELSEVIER SCIENCE BV, 2012年02月, [査読有り]
英語, 研究論文(学術雑誌), Background: Syringomyelia is a rare disease characterized by abnormal fluid-filled cavities within the spinal cord, and is associated with Chiari malformations, arachnoiditis, or spinal cord tumors. The widespread availability of magnetic resonance imaging (MRI) in Japan has allowed for easy identification of syrinxes. The aim of this study was to survey the clinicoepidemiological characteristics of syringomyelia in Japan.
Methods: A 2-stage postal survey was conducted in late 2009. The first survey aimed to estimate the number of patients with syringomyelia, and the second survey aimed to elucidate clinicoepidemiological characteristics. Diagnosis of syringomyelia was based on the findings of MRI or computed tomographic myelography.
Results: In the first survey, we received 2133 responses from 2937 randomly selected departments and collected data of 1215 syringomyelia patients (543 men and 672 women). The total response rate for the first survey was 73%. The estimated prevalence of ambulatory syringomyelia patients in Japan was 1.94 per 100000. In the second survey, the proportion of asymptomatic syringomyelia patients was 22.7%. Chiari type I malformations and idiopathic syringomyelia were the first and second most common etiologies.
Conclusions: Our nationwide survey indicated that widespread MRI availability has contributed to the diagnosis of both asymptomatic and idiopathic cases. (C) 2011 Elsevier B.V. All rights reserved. - 慢性炎症性脱髄性多発神経炎に対するシクロスポリンAの至適用量設定に関するトラフ値、血中濃度下面積測定の有用性
廣谷真, 竹内朗子, 白井慎一, 堀内一宏, 高橋育子, 松島理明, 加納崇裕, 矢部一郎, 松本昭久, 佐々木秀直
末梢神経, 28, 231, 232, 2012年, [査読有り] - 再注目される感染性髄膜炎の古典的髄液診断マーカー
佐久嶋 研, 矢部 一郎, 佐々木 秀直
臨床神経学, 52, 1, 6, 11, 日本神経学会, 2012年
日本語, Bacterial meningitis and tubercular meningitis are still neurological emergencies characterized by severe mortality and morbidity. Recent studies of meta-analysis have shown the usefulness of cerebrospinal fluid (CSF) lactate and CSF adenosine deaminase (ADA) as markers for the detection of bacterial meningitis and tubercular meningitis, respectively. CSF lactate has a high sensitivity and specificity for the diagnosis of bacterial meningitis, but the sensitivity can be reduced by antibiotic pretreatment. CSF-ADA has a moderate sensitivity but a high specificity and is reHable for the diagnosis of tubercular meningitis. These old diagnostic markers can be evaluated in resource-poor settings including small general hospitals and non-specialized hospitals for infectious diseases, and they can contribute to the quick and accurate diagnosis of infectious meningitis. - Clinical features of spinal cord sarcoidosis: analysis of 17 neurosarcoidosis patients
Ken Sakushima, Ichiro Yabe, Fumihito Nakano, Kazuto Yoshida, Yasutaka Tajima, Hideki Houzen, Yasunori Maruo, Hidenao Sasaki
JOURNAL OF NEUROLOGY, 258, 12, 2163, 2167, SPRINGER HEIDELBERG, 2011年12月, [査読有り]
英語, 研究論文(学術雑誌), The diagnosis of neurosarcoidosis is often difficult; the imaging signs of spinal cord sarcoidosis sometimes mimic those of cervical spondylotic myelopathy, which is common in elderly persons. We examined the characteristics of spinal cord sarcoidosis in Japanese patients with neurosarcoidosis. This case series identified patients with neurosarcoidosis at four general hospitals and one university hospital from April 1998 to September 2010. All diagnoses were based on the diagnostic criteria proposed by Zajicek et al. Seventeen patients (nine men and eight women) were involved: six patients with spinal cord lesions accompanied by cervical spondylosis, five with cerebral lesions, three with cranial nerve lesions, two with meningitis, and one with nerve root lesions. Patients with spinal cord sarcoidosis had a higher onset age, longer duration from onset to diagnosis, reduced leukocytosis in the cerebrospinal fluid (CSF), and lower angiotensin-converting enzyme (ACE) levels in the CSF. The results of this study indicate that diagnosis of spinal cord sarcoidosis requires careful evaluation. - ALSにおける11C-フルマゼニル(FMZ)-PET所見
矢部 一郎, 秋本 幸子, 大槻 美佳, 志賀 哲, 玉木 長良, 佐々木 秀直
臨床神経学, 51, 12, 1220, 1220, (一社)日本神経学会, 2011年12月
日本語 - 進行性非流暢性失語 臨床症候による分類の試み
大槻 美佳, 中川 賀詞, 緒方 昭彦, 保前 英希, 矢部 一郎, 西澤 正豊, 佐々木 秀直
臨床神経学, 51, 12, 1406, 1406, (一社)日本神経学会, 2011年12月
日本語 - 筋萎縮性側索硬化症における高次脳機能の検討 書字を中心として
秋本 幸子, 濱田 晋輔, 大槻 美佳, 田村 至, 志賀 哲, 矢部 一郎, 佐々木 秀直
老年期認知症研究会誌, 18, 7, 10, 老年期認知症研究会, 2011年11月
日本語, 筋萎縮性側索硬化症(ALS)患者18例(男性9例、女性9例、平均65.4歳)を対象に高次脳機能と書字機能検査を行い、対照群16名(男性5名、女性11名、平均64.5歳)と比較した。全般性知能の指標にレーブン色彩マトリシス試験を行ったが両群間に有意差はなかった。患者群の初発部位は脳幹領域10例、頸髄領域6例、腰仙髄領域、複数領域各1例、罹病期間は平均19.4ヵ月、ALS機能スコアは平均34.7であった。対照群に比べ有意に得点が低かったのは順唱・逆唱、Western Aphasia Batteryの文理解、小学3年迄に使用する漢字書き取り、絵画配列、課題作文での総誤記率であり、絵画配列はウェクスラー成人知能検査で3点満点中1.75点(対照群2.88点)、課題作文では文レベル、文字レベルの誤りがあり、特に主語のない文と脱字が多かった。フルマゼニルPETでは、誤記率の高い患者で前部帯状回に有意なベンゾジアゼピン受容体結合能の低下が認められた。 - Neck Rigidity as a Physical Manifestation of Higher Brain Hypo-function/Dysfunction
Kazumasa Sudo, Yasunori Mito, Yasutaka Tajima, Akihisa Matsumoto, Ichiro Yabe, Mika Otsuki, Kunio Tashiro
IN VIVO, 25, 5, 821, 824, INT INST ANTICANCER RESEARCH, 2011年09月, [査読有り]
英語, 研究論文(学術雑誌), A total of 308 patients, who received inpatient rehabilitation in department of Neurology in Sapporo City General Hospital, were studied. The patients were divided into four subgroups according to the presence or absence of Parkinsonism and the location of organic neurological lesions: group A consisted of 47 patients with brain lesions who presented with Parkinsonism; group B consisted of 135 patients with manifestations deriving from brain disorders other than Parkinsonism; group C consisted of 68 patients with manifestations deriving from spinal cord, peripheral nerve, and muscle disorders; and group D consisted of 58 patients with non-organic functional disorders and Patients with organic lesions not responsible for clinical manifestations. The patients were administered a battery of 5 tests for evaluating frontal lobe and/or higher brain function. In result, our study confirmed higher brain/frontal lobe dysfunction to affect the grade of neck rigidity unless there is an interruption, in the control of peripheral organs, by the brain. Consequently the association between higher brain/frontal lobe dysfunction and the grade of neck rigidity were confirmed. Although neck rigidity may be a minor clinical manifestation, it can provide important clues to brain function. - Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism
Kazunori Sato, Ichiro Yabe, Hiroaki Yaguchi, Fumihito Nakano, Yasuyuki Kunieda, Shinji Saitoh, Hidenao Sasaki
JOURNAL OF NEUROLOGY, 258, 7, 1327, 1332, SPRINGER HEIDELBERG, 2011年07月, [査読有り]
英語, 研究論文(学術雑誌), Mutations in the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1) and DNA polymerase gamma (POLG) genes were reported in patients with progressive external ophthalmoplegia and parkinsonism. However, the genotype-phenotype correlation and pathophysiology of these syndromes are still unknown. In order to define the molecular basis of progressive external ophthalmoplegia and parkinsonism, we screened for mutations in PEO1, ANT1, POLG genes and the whole mitochondrial genome in two families. In results, we identified a compound heterozygous POLG substitutions, c.830A > T (p.H277L) and c.2827C > T (p.R943C) in one of the families. These two mutations in the coding region of POLG alter conserved amino acids in the exonuclease and polymerase domains, respectively, of the POLG protein. Neither of these substitutions was found in the 100 chromosomes of ethnically matched control subjects. In the other family, no mutations were detected in any of the three genes and the whole mitochondrial genome in the blood sample, although mitochondrial DNA deletions were observed in the muscle biopsy sample. Progressive external ophthalmoplegia and parkinsonism are genetically heterogenous disorders, and part of this syndrome may be caused by mutations in other, unknown genes. - Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy
Hidenao Sasaki, Mitsuru Emi, Hiroshi Iijima, Noriko Ito, Hidenori Sato, Ichiro Yabe, Takeo Kato, Jun Utsumi, Kenichi Matsubara
MOLECULAR BRAIN, 4, 24, 24, BIOMED CENTRAL LTD, 2011年06月, [査読有り]
英語, 研究論文(学術雑誌), Background: Multiple system atrophy (MSA) is a sporadic disease. Its pathogenesis may involve multiple genetic and nongenetic factors, but its etiology remains largely unknown. We hypothesized that the genome of a patient with MSA would demonstrate copy number variations (CNVs) in the genes or genomic regions of interest. To identify genomic alterations increasing the risk for MSA, we examined a pair of monozygotic (MZ) twins discordant for the MSA phenotype and 32 patients with MSA.
Results: By whole-genome CNV analysis using a combination of CNV beadchip and comparative genomic hybridization (CGH)-based CNV microarrays followed by region-targeting, high-density, custom-made oligonucleotide tiling microarray analysis, we identified disease-specific copy number loss of the (Src homology 2 domain containing)-transforming protein 2 (SHC2) gene in the distal 350-kb subtelomeric region of 19p13.3 in the affected MZ twin and 10 of the 31 patients with MSA but not in 2 independent control populations (p = 1.04 x 10(-8), odds ratio = 89.8, Pearson's chi-square test).
Conclusions: Copy number loss of SHC2 strongly indicates a causal link to MSA. CNV analysis of phenotypically discordant MZ twins is a powerful tool for identifying disease-predisposing loci. Our results would enable the identification of novel diagnostic measure, therapeutic targets and better understanding of the etiology of MSA. - Effect of Leuprorelin in Patients with Spinal and Bulbar Muscular Atrophy (SBMA): A Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial
Haruhiko Banno, Masahisa Katsuno, Keisuke Suzuki, Yu Takeuchi, Motoshi Kawashima, Ichiro Yabe, Hidenao Sasaki, Masashi Aoki, Mitsuya Morita, Imaharu Nakano, Kazuaki Kanai, Shoichi Ito, Kinya Ishikawa, Hidehiro Mizusawa, Tomotaka Yamamoto, Shoji Tsuji, Kazuko Hasegawa, Takayoshi Shimohata, Masatoyo Nishizawa, Hiroaki Miyajima, Fumio Kanda, Yasuhiro Watanabe, Kenji Nakashima, Akira Tsujino, Taro Yamashita, Makoto Uchino, Yasushi Fujimoto, Fumiaki Tanaka, Gen Sobue
NEUROLOGY, 76, 9, A583, A583, LIPPINCOTT WILLIAMS & WILKINS, 2011年03月, [査読有り]
英語 - FDG-PET SUV can distinguish between spinal sarcoidosis and myelopathy with canal stenosis
Ken Sakushima, Ichiro Yabe, Tohru Shiga, Moemi Yashima-Yamada, Sachiko Tsuji-Akimoto, Satoshi Terae, Hidenao Sasaki
JOURNAL OF NEUROLOGY, 258, 2, 227, 230, SPRINGER HEIDELBERG, 2011年02月, [査読有り]
英語, 研究論文(学術雑誌), Spinal cord sarcoidosis is a rare manifestation of sarcoidosis. Magnetic resonance imaging (MRI) of spinal cord sarcoidosis sometimes resembles that of the non-inflammatory spinal cord lesion. (18)F-fluorodeoxyglucose positron emission tomography (FDG-PET) is an effective method to detect both systemic and central nervous system lesions in sarcoidosis. This study compared the standard uptake value (SUV) of FDG-PET between spinal cord sarcoidosis and non-inflammatory spinal cord lesions. We retrospectively reviewed the records of patients who underwent both spinal MRI and FDG-PET scans. We used SUV to evaluate the FDG-PET uptake of the lesion. The region of interest was the center of high-intensity areas on T2-weighted MR images. We included three patients with spinal cord sarcoidosis, five with myelomalacia caused by cervical spondylosis or ossification of the posterior longitudinal ligament, one with spinal cord edema associated with cervical spondylosis, and one with spinal cord edema associated with dural arteriovenous fistula. The spinal cord sarcoidosis group had a significantly higher SUV (mean 4.38, range 3.30-4.93) than patients with the other diseases (mean 1.87, range 1.42-2.74). The SUV of FDG-PET thus may be able to distinguish spinal cord sarcoidosis from other non-inflammatory lesions. FDG-PET can play an important role in the diagnosis of spinal cord sarcoidosis because the gadolinium enhancement in MRI is sometimes seen in spondylotic myelopathy or vascular malformation. FDG-PET is informative for the accurate diagnosis of spinal cord sarcoidosis and may enable clinicians to start treatment at an earlier stage. - 常染色体優性遺伝性痙性対麻痺の臨床
矢部一郎, 佐々木秀直
神経内科, 74, 119, 126, 2011年, [査読有り]
日本語 - Estimation of skeletal muscle energy metabolism in Machado-Joseph disease using (31)P-MR spectroscopy.
Ichiro Yabe, Khin K Tha, Takashi Yokota, Kazunori Sato, Hiroyuki Soma, Asako Takei, Satoshi Terae, Koichi Okita, Hidenao Sasaki
Movement disorders : official journal of the Movement Disorder Society, 26, 1, 165, 8, 2011年01月, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), The aim of this study was to determine if muscle energy metabolism, as measured by (31)P-magnetic resonance spectroscopy (MRS), is a metabolic marker for the efficacy of treatment of Machado-Joseph disease (MJD). We obtained (31)P-MRS in the calf muscle of 8 male patients with MJD and 11 healthy men before, during, and after a 4 minute plantar flexion exercise in a supine position. The data showed that there was a significant difference between the groups in terms of the PCr/(Pi + PCr) ratio at rest (P = 0.03) and the maximum rate of mitochondrial ATP production (V(max)) (P < 0.01). In addition, V(max) was inversely correlated with the scale for the assessment and rating of ataxia score (r = -0.34, P = 0.04). The MJD group also showed a reduction in V(max) over the course of 2 years (P < 0.05). These data suggest that this noninvasive measurement of muscle energy metabolism may represent a surrogate marker for MJD. - 甲状腺疾患に伴う神経障害. 内科医のためのminimum requirement
矢部 一郎
Medicina, 48, 1360, 1363, 2011年, [査読有り]
日本語 - Writing errors as a result of frontal dysfunction in Japanese patients with amyotrophic lateral sclerosis
Sachiko Tsuji-Akimoto, Shinsuke Hamada, Ichiro Yabe, Itaru Tamura, Mika Otsuki, Syoji Kobashi, Hidenao Sasaki
JOURNAL OF NEUROLOGY, 257, 12, 2071, 2077, SPRINGER HEIDELBERG, 2010年12月, [査読有り]
英語, 研究論文(学術雑誌), Loss of communication is a critical problem for advanced amyotrophic lateral sclerosis (ALS) patients. This loss of communication is mainly caused by severe dysarthria and disability of the dominant hand. However, reports show that about 50% of ALS patients have mild cognitive dysfunction, and there are a considerable number of case reports on Japanese ALS patients with agraphia. To clarify writing disabilities in non-demented ALS patients, eighteen non-demented ALS patients and 16 controls without neurological disorders were examined for frontal cognitive function and writing ability. To assess writing errors statistically, we scored them on their composition ability with the original writing error index (WEI). The ALS and control groups did not differ significantly with regard to age, years of education, or general cognitive level. Two patients could not write a letter because of disability of the dominant hand. The WEI and results of picture arrangement tests indicated significant impairment in the ALS patients. Auditory comprehension (Western Aphasia Battery; WAB IIC) and kanji dictation also showed mild impairment. Patients' writing errors consisted of both syntactic and letter-writing mistakes. Omission, substitution, displacement, and inappropriate placement of the phonic marks of kana were observed; these features have often been reported in Japanese patients with agraphia resulted from a frontal lobe lesion. The most frequent type of error was an omission of kana, the next most common was a missing subject. Writing errors might be a specific deficit for some non-demented ALS patients. - 筋萎縮性側索硬化症における書字障害の検討
秋本 幸子, 濱田 晋輔, 大槻 美佳, 田村 至, 矢部 一郎, 濱田 毅, 佐々木 秀直
臨床神経学, 50, 12, 1163, 1163, (一社)日本神経学会, 2010年12月
日本語 - 進行性非流暢性失語 臨床症候と予後、病理所見
大槻 美佳, 中川 賀嗣, 緒方 昭彦, 保前 英希, 高橋 育子, 矢部 一郎, 西澤 正豊, 佐々木 秀直, 吉田 秀明, 飛岡 弘敏, 森 文秋, 若林 孝一
臨床神経学, 50, 12, 1225, 1225, (一社)日本神経学会, 2010年12月
日本語 - MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes
M. Nakamura, I. Yabe, A. Sudo, K. Hosoki, H. Yaguchi, S. Saitoh, H. Sasaki
JOURNAL OF MEDICAL GENETICS, 47, 10, 659, 664, B M J PUBLISHING GROUP, 2010年10月, [査読有り]
英語, 研究論文(学術雑誌), Background Myoclonic epilepsy with ragged-red fibres (MERU) and mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are established phenotypes of mitochondrial encephalomyopathy. The m.8356T>C transition in the mitochondrial tRNA(LYs) gene is a pathogenic mutations of MERRF. The m.3243A>G transition in the mitochondrial tRNALeu gene is detected in most MELAS patients. Although previous analyses of double mutations in mitochondrial DNA (mtDNA) were useful for discussing their nature, many unsolved questions remain.
Objective To describe the clinical and genetic features of a family with the above mtDNA double-point mutations and discuss the role of double mtDNA mutations in diverse clinical features in the family.
Patients and methods The proband was a 23-year-old woman with MERRF harbouring m.8356T>C and m.3243A>G transitions in mitochondrial tRNA genes. We assessed clinical aspects of her and those other three relatives and performed mutation analyses on their mtDNA.
Results Phenotypes of the four patients were MERRF, MERRF/MELAS overlap syndrome and asymptomatic carrier. We hypothesise that the course of the phenotype of this family begins with MERRF and is followed by MELAS. This double mutation was heteroplasmic in blood of all four patients but with different rates in each patient, while m.8356T>C appeared homoplasmic and m.3243A>G was heteroplasmic in muscle of the two examined cases. No other mutations were detected in the total mtDNA sequence in this family.
Conclusions This is the first reported case of a double-point mutation in mtDNA, both of which were heteroplasmic and pathogenic for the established phenotypes. - Mapping of Autosomal Dominant Cerebellar Ataxia Without the Pathogenic PPP2R2B Mutation to the Locus for Spinocerebellar Ataxia 12
Kazunori Sato, Ichiro Yabe, Yoko Fukuda, Hiroyuki Soma, Yasuo Nakahara, Shoji Tsuji, Hidenao Sasaki
ARCHIVES OF NEUROLOGY, 67, 10, 1257, 1262, AMER MEDICAL ASSOC, 2010年10月, [査読有り]
英語, 研究論文(学術雑誌), Objectives: To map the disease locus and to identify a gene mutation in a Japanese family with autosomal dominant cerebellar ataxia.
Design: A genome-wide linkage analysis was performed using the Affymetrix genome-wide human single-nucleotide polymorphism array containing 909 622 single-nucleotide polymorphisms. Direct nucleotide sequencing of a candidate gene was performed.
Setting: Hokkaido University Graduate School of Medicine and Tokyo University Graduate School of Medicine.
Patients: Four affected and 6 healthy individuals in a family with autosomal dominant cerebellar ataxia.
Results: One locus on chromosome 5q had a multipoint logarithm of odds score of 2.408, the theoretical maximum. This locus was flanked by markers rs681591 and rs32582 and includes PPP2R2B (protein phosphatase 2, regulatory subunit B, beta isoform), the causative gene of autosomal dominant spinocerebellar ataxia 12 (SCA12). However, unlike SCA12, no CAG repeat expansions in the promoter region and no nucleotide substitution or insertion-deletion mutations in the exons of the PPP2R2B gene were found.
Conclusion: Autosomal dominant cerebellar ataxia mapping to 5q31-q33.1 has no CAG repeat expansion or other mutations of the PPP2R2B gene. - Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial.
Katsuno M, Banno H, Suzuki K, Takeuchi Y, Kawashima M, Yabe I, Sasaki H, Aoki M, Morita M, Nakano I, Kanai K, Ito S, Ishikawa K, Mizusawa H, Yamamoto T, Tsuji S, Hasegawa K, Shimohata T, Nishizawa M, Miyajima H, Kanda F, Watanabe Y, Nakashima K, Tsujino A, Yamashita T, Uchino M, Fujimoto Y, Tanaka F, Sobue G, for the japan SBMA Interventional Trial for TAP-144-SR (JASMITT) study group
Lancet Neurol., 9, 9, 875, 884, ELSEVIER SCIENCE INC, 2010年09月, [査読有り]
英語, 研究論文(学術雑誌), Background Spinal and bulbar muscular atrophy is a hereditary motor neuron disease caused by the expansion of a polyglutamine tract in the androgen receptor. At present there are no treatments for spinal and bulbar muscular atrophy, although leuprorelin suppressed the accumulation of pathogenic androgen receptors in a phase 2 trial. We aimed to assess the efficacy and safety of leuprorelin for spinal and bulbar muscular atrophy.
Methods The Japan SBMA Interventional Trial for TAP-144-SR (JASMITT) was a 48-week, randomised, double-blind, placebo-controlled trial done at 14 hospitals between August, 2006, and March, 2008. Patients with spinal and bulbar muscular atrophy were randomly assigned (1:1) by minimisation to subcutaneous 11.25 mg leuprorelin or identical placebo every 12 weeks. Patients and investigators were masked to treatment allocation. The primary endpoint was pharyngeal barium residue, which indicates incomplete bolus clearance, measured at week 48 by videofluorography. All patients who were randomly assigned and who were assessed with videofluorography at least once were included in the analyses. This study is registered with the JMACCT clinical trials registry, number JMA-IIA00009, and the UMIN clinical trials registry, number UMIN000000465.
Findings 204 patients were randomly assigned and 199 started treatment: 100 with leuprorelin and 99 with placebo. At week 48, the pharyngeal barium residue after initial swallowing had changed by -5.1% (SD 21.0) in the leuprorelin group and by 0.2% (18.2) in the placebo group (difference between groups -5.3%; 95% CI -10.8 to 0.3; p=0.063). The mean difference in pharyngeal barium residue after piecemeal deglutition at week 48 was -3.2% (-6.4 to 0.0; p=0.049), but there was no significant difference between the groups after covariate adjustment for the baseline data (-4.1 to 1.6; p=0.392). In a predefined subgroup analysis, leuprorelin treatment was associated with a greater reduction in barium residue after initial swallowing than was placebo in patients with a disease duration less than 10 years (difference between groups -9.8, -17.1 to -2.5; p=0.009). There were no significant differences in the number of drug-related adverse events between groups (57 of 100 in the leuprorelin group and 54 of 99 in the placebo group; p=0.727).
Interpretation 48 weeks of treatment with leuprorelin did not show significant effects on swallowing function in patients with spinal and bulbar muscular atrophy, although it was well tolerated. Disease duration might influence the efficacy of leuprorelin and thus further clinical trials with sensitive outcome measures should be done in subpopulations of patients. - Progressive anterior operculum syndrome due to FTLD-TDP: a clinico-pathological investigation
Mika Otsuki, Yoshitsugu Nakagawa, Fumiaki Mori, Hirotoshi Tobioka, Hideaki Yoshida, Yoshiharu Tatezawa, Toshio Tanigawa, Ikuko Takahashi, Ichiro Yabe, Hidenao Sasaki, Koichi Wakabayashi
JOURNAL OF NEUROLOGY, 257, 7, 1148, 1153, SPRINGER HEIDELBERG, 2010年07月, [査読有り]
英語, 研究論文(学術雑誌), Pathological investigation of progressive anterior operculum syndrome has rarely been reported. We describe clinico-pathological findings in a patient with progressive anterior operculum syndrome. A 74-year-old right-handed man had noticed speech and swallowing difficulties 1 year previously. Neurological examinations showed no abnormality other than a slight limitation of upward gaze and slow tongue movement without fibrillation. We investigated the patient using neuroimaging and neuropsychological examinations and observed him for 2 years until his death, at which point we obtained pathological findings. The patient's facial and masseteric muscles seemed hypotonic with drooling, but he could laugh and yawn normally, showing automatic voluntary dissociation. Palatal and pharyngeal reflexes were normal. Magnetic resonance imaging showed cortical atrophy in the temporal lobes bilaterally. (123)IMP single photon emission computed tomography and positron emission tomography showed decreased blood flow and activity in the frontotemporal lobes, predominantly on the left side. Neuropsychological examinations showed no aphasia, dementia or other neuropsychological abnormality. Intubation fiberscopy, laryngoscopy and video fluorography showed no abnormality. After 6 months his anarthria and dysphagia became aggravated. He died of aspiration pneumonia 2 years after onset. Postmortem examination revealed neuronal degeneration with TDP-43-positive inclusions in the frontal, temporal and insular cortices, consistent with frontotemporal lobar degeneration with TDP inclusions (FTLD-TDP). However, neuronal loss with gliosis was more prominent in the inferior part of the motor cortices, bilaterally. Progressive anterior operculum syndrome could be classified as a variant of FTLD-TDP. - Microstructural white matter abnormalities of multiple system atrophy: in vivo topographic illustration by using diffusion-tensor MR imaging.
Khin K Tha, Satoshi Terae, Ichiro Yabe, Tamaki Miyamoto, Hiroyuki Soma, Yuri Zaitsu, Noriyuki Fujima, Kohsuke Kudo, Hidenao Sasaki, Hiroki Shirato
Radiology, 255, 2, 563, 9, 2010年05月, [査読有り], [国際誌]
英語, 研究論文(学術雑誌), PURPOSE: To determine whether diffusion-tensor (DT) imaging can demonstrate microstructural white matter abnormalities of multiple system atrophy (MSA) and to correlate these imaging findings with clinical signs and symptoms. MATERIALS AND METHODS: Institutional review board approval and written informed consent were obtained. DT imaging was performed in 16 patients with MSA with predominant cerebellar symptoms (MSA-C) (mean age, 60.0 years + or - 5.1 [standard deviation]; range, 51-69 years) and 16 age-matched healthy subjects. Fractional anisotropy (FA) and mean diffusivity (MD) were compared voxel-by-voxel between the two groups by using a two-sample t test. Overlap maps were created to illustrate areas with FA and MD alterations. Correlation between DT imaging indexes and Barthel index score, scale for assessment and rating of ataxia (SARA) score, severity of orthostatic hypotension, age of disease onset, and disease duration was tested by using Spearman rank or Pearson product-moment correlation analysis. T2-weighted and proton density-weighted images of the patients were visually assessed. RESULTS: Widespread areas of FA reduction and MD elevation were observed in supra- and infratentorial white matter structures in patients with MSA (P < .05, false discovery rate corrected). Significant correlation (P < .01) between DT imaging indexes and Barthel index score, SARA score, severity of orthostatic hypotension, and disease duration was observed for multiple areas with FA and/or MD alterations. T2-weighted and proton density-weighted images showed no significant abnormality in supratentorial white matter. CONCLUSION: DT imaging may help identify the microstructural white matter abnormalities of MSA-C. DT imaging may be useful for severity assessment of MSA-C. - Decreased IL-10 production mediated by Toll-like receptor 9 in B cells in multiple sclerosis
Makoto Hirotani, Masaaki Niino, Toshiyuki Fukazawa, Seiji Kikuchi, Ichiro Yabe, Shinsuke Hamada, Yasutaka Tajima, Hidenao Sasaki
JOURNAL OF NEUROIMMUNOLOGY, 221, 1-2, 95, 100, ELSEVIER SCIENCE BV, 2010年04月, [査読有り]
英語, 研究論文(学術雑誌), The complexity of the roles of Toll-like receptors (TLRs) is attributable to their ability to promote or suppress autoimmune diseases. Recent studies have demonstrated that B cells regulate autoimmune diseases, including multiple sclerosis (MS), by producing interleukin (IL)-10. By using CpG DNA as a TLR9 agonist, we investigated the immunoregulatory functions of B cell via TLR9 in MS. Our results indicate that TLR9-mediated IL-10 production by B cells was significantly decreased in MS, and this decrease is likely due to decreased TLR9 expression in memory B cells, suggesting a role of TLR9 in immunoregulation in MS. (C) 2010 Elsevier B.V. All rights reserved. - Dissociation between the severity of cerebrospinal fluid hypovolemia and MRI findings
Masaaki Matsushima, Ichiro Yabe, Hiroaki Nishimura, Ken Sakushima, Sachiko Akimoto, Masaaki Niino, Hidenao Sasaki
JOURNAL OF NEUROLOGY, 257, 4, 665, 666, DR DIETRICH STEINKOPFF VERLAG, 2010年04月, [査読有り]
英語 - Absence seizures with myoclonic seizures as an early manifestation of dentato-rubro-pallido-luysian atrophy (DRPLA): a follow-up clinical course of twelve years
Kazumasa Sudo, Dai Hata, Noriyuki Yokoyama, Jun Kawashima, Ichiro Yabe, Yasutaka Tajima, Akihisa Matsumoto, Kunio Tashiro
ACTA NEUROLOGICA BELGICA, 110, 1, 84, 88, ACTA MEDICA BELGICA, 2010年03月, [査読有り]
英語, 研究論文(学術雑誌), Typical absence seizures and isolated myoclonic seizures are both classified as age-related generalized seizures and are considered to be benign neurological manifestations. Concomitance of the two types of seizure is considered benign if it does not accompany other types of seizures or other neurological problems. We followed up a ten-year-old girl with isolated absence and myoclonic seizures whose family history of Mental and neurological signs was initially not disclosed. After several years, the family history of neurological and mental problems was finally disclosed, and the diagnosis of dentato-rubro-pallido-luysian atrophy (DRPLA) was confirmed. The patient's clinical course was slowly progressive, and by age 21 she was in a nearly vegetative state. We would like to alert clinicians to consider DRPLA when diagnosing patients With absence and/or myoclonic seizures, even when they present the clinical features of benign epilepsies in the early stage. - Entacapone, a catechol-O-methyltransferase inhibitor, improves the motor activity and dopamine content of basal ganglia in a rat model of Parkinson's disease induced by Japanese encephalitis virus
Naoya Hamaue, Akihiko Ogata, Mutsuko Terado, Shirou Tsuchida, Ichiro Yabe, Hidenao Sasaki, Masahiko Hirafuji, Hiroko Togashi, Takashi Aoki
BRAIN RESEARCH, 1309, 110, 115, ELSEVIER SCIENCE BV, 2010年01月, [査読有り]
英語, 研究論文(学術雑誌), Levodopa is the main medication used for the treatment of Parkinson's disease. However, dyskinesia and wearing-off appear after the administration of high-dose levodopa for a long period. To combat the dyskinesia and wearing-off, levodopa is used together with a dopamine (DA) receptor agonist, and the amount of levodopa is decreased. We have reported the monoamine oxidase (MAO)-B inhibitor selegiline to be effective for treating motor dysfunction in Parkinson's disease model rats. We analyzed the improvement in motor functions and catecholamine contents in various brain regions induced by a combination of the catechol-O-methyltransferase (COMT) inhibitor entacapone and a levodopa/dopadecarboxylase inhibitor (DDCI) in Japanese encephalitis virus (JEV) induced Parkinson's disease model rats. Entacapone (10 mg/kg) was administered via a single oral administration with levodopa/DDCI (10 mg/kg). The motor functions of the JEV model rats were significantly worsened, compared with those of the healthy control rats. The motor functions in the Parkinson's disease model rats were significantly recovered to the same levels as the healthy control rats by the combined administration of entacapone and levodopa/DDCI. A significant improvement in motor function was not demonstrated in the case of the administration of levodopa/DDCI alone. The striatal DA concentrations in the model rat brains were significantly increased by using levodopa/DDCI together with entacapone. Motor function was recovered by raising the striatum DA density in the model rats. Thus, COMT inhibitors are useful for decreasing the amount of levodopa administered to Parkinson's disease patients. (C) 2009 Elsevier B.V. All rights reserved. - Symptomatic Narcolepsy in Patients With Neuromyelitis Optica and Multiple Sclerosis New Neurochemical and Immunological Implications
Takashi Kanbayashi, Takayoshi Shimohata, Ichiro Nakashima, Hiroaki Yaguchi, Ichiro Yabe, Masatoyo Nishizawa, Tetsuo Shimizu, Seiji Nishino
ARCHIVES OF NEUROLOGY, 66, 12, 1563, 1566, AMER MEDICAL ASSOC, 2009年12月, [査読有り]
英語, 研究論文(学術雑誌), Objective: To characterize factors that contribute to symptomatic narcolepsy and excessive daytime sleepiness in neuromyelitis optica and multiple sclerosis.
Setting: Japanese university hospitals.
Design: Case study.
Patients: Seven Japanese patients whose initial diagnoses were multiple sclerosis and who were exhibiting excessive daytime sleepiness.
Main Outcome Measures: Lesions on magnetic resonance imaging, cerebrospinal fluid hypocretin-1 levels, and serum anti-aquaporin 4 (AQP4) antibody titer.
Results: Bilateral and symmetrical hypothalamic lesions associated with marked or moderate hypocretin deficiency were found in all 7 cases. Four of these patients met the International Classification of Sleep Disorders 2 narcolepsy criteria. Three patients, including 2 patients with narcolepsy, were seropositive for anti-AQP4 antibody and diagnosed as having neuromyelitis optica-related disorder.
Conclusion: Since AQP4 is highly expressed in the hypothalamic periventricular regions, an immune attack on AQP4 may be partially responsible for the bilateral and hypothalamic lesions and hypocretin deficiency in narcolepsy/excessive daytime sleepiness associated with autoimmune demyelinating diseases. - Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
A. Mehta, M. Beck, P. Elliott, R. Giugliani, A. Linhart, G. Sunder-Plassmann, R. Schiffmann, F. Barbey, M. Ries, J. T. R. Clarke
LANCET, 374, 9706, 1986, 1996, ELSEVIER SCIENCE INC, 2009年12月, [査読有り]
英語, 研究論文(学術雑誌), Background We analysed 5-year treatment with agalsidase alfa enzyme replacement therapy in patients with Fabry's disease who were enrolled in the Fabry Outcome Survey observational database (FOS).
Methods Baseline and 5-year data were available for up to 181 adults (126 men) in FOS. Serial data for cardiac mass and function, renal function, pain, and quality of life were assessed. Safety and sensitivity analyses were done in patients with baseline and at least one relevant follow-up measurement during the 5 years (n=555 and n=475, respectively).
Findings In patients with baseline cardiac hypertrophy, treatment resulted in a sustained reduction in left ventricular mass (LVM) index after 5 years (from 71.4 [SD 22.5] g/m(2.7) to 64.1 [18.7] g/m(2.7), p=0.0111) and a significant increase in midwall fractional shortening (MFS) from 14.3% (2.3) to 16.0% (3.8) after 3 years (p=0.02). In patients without baseline hypertrophy, LVM index and MFS remained stable. Mean yearly fall in estimated glomerular filtration rate versus baseline after 5 years of enzyme replacement therapy was -3.17 mL/min per 1.73 m(2) for men and -0.89 mL/min per 1.73 m(2) for women. Average pain, measured by Brief Pain Inventory score, improved significantly, from 3.7 (2.3) at baseline to 2.5 (2.4) after 5 years (p=0.0023). Quality of life, measured by deviation scores from normal EuroQol values, improved significantly, from -0.24 (0.3) at baseline to -0.17 (0.3) after 5 years (p=0.0483). Findings were confirmed by sensitivity analysis. No unexpected safety concerns were identified.
Interpretation By comparison with historical natural history data for patients with Fabry's disease who were not treated with enzyme replacement therapy, long-term treatment with agalsidase alfa leads to substantial and sustained clinical benefits. - 筋萎縮性側索硬化症の高次脳機能スクリーニング
秋本 幸子, 濱田 晋輔, 大槻 美佳, 矢部 一郎, 田村 至, 濱田 毅, 佐々木 秀直
臨床神経学, 49, 12, 1170, 1170, (一社)日本神経学会, 2009年12月
日本語 - Clinical characterization and successful treatment of 6 patients with Churg-Strauss syndrome-associated neuropathy
Masakazu Nakamura, Ichiro Yabe, Hiroaki Yaguchi, Riichiro Kishimoto, Yasunori Mito, Naoto Fujiki, Hideki Houzen, Sachiko Tsuji-Akimoto, Masaaki Niino, Hidenao Sasaki
CLINICAL NEUROLOGY AND NEUROSURGERY, 111, 8, 683, 687, ELSEVIER SCIENCE BV, 2009年10月, [査読有り]
英語, 研究論文(学術雑誌), Objective: To confirm the reported findings and clarify unknown clinical features of Churg-Strauss syndrome (CSS)-associated neuropathy and design appropriate treatment.
Patients and methods: We assessed the clinical features of 6 patients with CSS-associated neuropathy.
Results: Mononeuritis multiplex was present in 4 cases and polyneuropathy in the remaining cases. Both groups progressed to sensori-motor polyneuropathy in an acute or subacute course. All cases showed bronchial asthma and eosinophilia. Two cases with serum antineutrophil cytoplasmic antibodies to myeloperoxidase (MPO-ANCA) had an acute clinical course and severe symptoms. Nerve conduction studies (NCS) of these 2 cases revealed conduction blocks at the initial stage, although NCS finally indicated sensori-motor axonopathy at the involved extremities. For treatment, high-dose corticosteroid therapy for 4 cases, and cyclophosphamide combined with corticosteroids for 1 case, were effective. For the remaining case, intravenous immunoglobulin (IVIg) at the chronic phase resulted in a slow improvement of neuropathy in the symptomatic aspect. There was no relapse of neuropathy with low-dose corticosteroid treatment for 14-24 months after the initial treatment, except 1 case. There was also no relapse in the other case that was treated with moderate-dose steroids.
Conclusion: Our study showed that CSS-associated neuropathy is a treatable disorder and that the first choice therapy is high-dose corticosteroid. In cases where corticosteroids are ineffective or for severe cases, immunosuppressive therapy (cyclophosphamide) with steroids should be considered. and IVIg might be a treatment option. (C) 2009 Elsevier B.V. All rights reserved. - 新しい小脳性運動失調の重症度評価スケールScale for the Assessment and Rating of Ataxia(SARA)日本語版の信頼性に関する検討
佐藤和則, 矢部一郎, 相馬広幸, 安井建一, 伊藤瑞規, 下畑享良, 小野寺理, 中島健二, 祖父江元, 西澤正豊, 佐々木秀直
Brain Nerve, 61, 5, 591, 595, 2009年05月
日本語, 研究論文(学術雑誌), Background: The International Cooperative Ataxia Rating Scale (ICARS) is widely used as a scale for the assessment of the severity of cerebellar ataxia. However, this scale comprises several items
thus, making the application of this scale is not sufficiently practical to perform daily assessment of ataxic patients. A new rating scale - Scale for the Assessment and Rating of Ataxia (SARA) - was shown to provide highly reliable assessments
further, the scores on SARA correlated with the ICARS score and the Barthel index. After obtaining the permission, original SARA was translated into Japanese. Objective and Methods: To examine the reliability and internal consistency of the Japanese version of the SARA for the assessment of cerebellar ataxia in 66 patients with spinocerebellar degeneration. Results: Intraclass coefficients (ICC) were observed to be greater than 0.8 except in the case of the inter-rater "finger chase" and "fast alternating hand movement" tests. Conclusions: The Japanese version of SARA is highly reliable and very useful for the assessment of cerebellar ataxia on a daily basis. - 眼球運動検査により経過を追えた家族性片麻痺性片頭痛I型の1例
武市 紀人, 鈴木 正宣, 藤原 圭志, 津布久 崇, 福田 諭, 矢部 一郎, 佐々木 秀直
日本耳鼻咽喉科学会会報, 112, 4, 300, 300, (一社)日本耳鼻咽喉科学会, 2009年04月
日本語 - Cystatin C in cerebrospinal fluid as a biomarker of ALS
Sachiko Tsuji-Akimoto, Ichiro Yabe, Masaaki Niino, Seiji Kikuchi, Hidenao Sasaki
NEUROSCIENCE LETTERS, 452, 1, 52, 55, ELSEVIER IRELAND LTD, 2009年03月, [査読有り]
英語, 研究論文(学術雑誌), Amyotrophic lateral sclerosis (ALS) is diagnosed on the basis of progressive symptoms in both the upper and lower motor neurons. Because there are no specific biomarkers for ALS, it is difficult to diagnose this disease in its early stages. Cerebrospinal fluid (CSF) samples were obtained from 14 patients in the early stages of ALS, from 13 with polyneuropathy, and from 16 with other neurological disorders. The concentration of cystatin C in the CSF was measured using a sandwich enzyme-linked immunosorbent assay (ELISA) kit. The concentration of cystatin C in the CSF was significantly lower in ALS patients than in the control subjects who were patients with polyneuropathy or other neurological diseases (patients with ALS, polyneuropathy, and other diseases exhibited 5.5 +/- 0.3, 6.7 +/- 0.4, and 6.9 +/- 0.3 mg/L cystatin C, respectively; ALS patients vs. control subjects: p = 0.014 and ALS patients vs. polyneuropathy patients: p = 0.024). Cystatin C may be a useful biomarker of ALS and can be used to distinguish between ALS and polyneuropathy. (C) 2009 Elsevier Ireland Ltd. All rights reserved. - 血液ガス分析装置による髄液乳酸及び糖の迅速測定の信頼性
佐久嶋 研, 新野正明, 秋本幸子, 矢部一郎, 佐々木秀直
臨床神経学, 49, 5, 275, 277, Societas Neurologica Japonica, 2009年, [査読有り]
日本語, 研究論文(学術雑誌), The lactate levels in the cerebrospinal fluid (CSF) can be used to distinguish bacterial meningitis from aseptic meningitis. However, it is usually difficult to promptly measure the lactate levels. There are certain blood gas analyzers that can be used to easily and promptly obtain glucose and lactose data. We ascertained whether the lactate and glucose levels from CSF samples can be analyzed by blood gas analyzers, and we subsequently compared the data obtained with that measured at the laboratory. In this study, we measured the cell counts and the protein, glucose, and lactate levels in 62 CSF samples obtained from 51 patients. Of these 62 samples, lactate and glucose of 17 samples were also measured by a blood gas analyzer. There were no significant differences in the lactate and glucose levels between the data measured at the laboratory and that measured by the blood gas analyzer. In conclusion, we consider that rapid measurement of the lactate and glucose levels in CSF samples by blood gas analyzers can be considerably reliable in clinical practice. - Slowly progressive Foix-Chavany-Marie syndromeと進行性非流暢性失語の症候
大槻 美佳, 中川 賀嗣, 緒方 昭彦, 保前 英希, 高橋 育子, 矢部 一郎, 西澤 正豊, 佐々木 秀直
神経心理学, 24, 4, 315, 315, 日本神経心理学会, 2008年12月
日本語 - Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family
Ichiro Yabe, Mayumi Kitagawa, Yashio Suzuki, Keishi Fujiwara, Takahito Wada, Takashi Tsubuku, Norihito Takeichi, Ken Sakushima, Hiroyuki Soma, Sachiko Tsuji, Masaaki Niino, Shinji Saitoh, Hidenao Sasaki
JOURNAL OF NEUROLOGY, 255, 10, 1541, 1544, DR DIETRICH STEINKOPFF VERLAG, 2008年10月, [査読有り]
英語, 研究論文(学術雑誌), Clinical examinations and mutational analyses were carried out in three patients of a Japanese familial hemiplegic migraine (FHM) pedigree. Each affected member demonstrated a broad clinical spectrum that included hemiplegic migraine with progressive cerebellar ataxia, migraine without aura, and episodic ataxia. Despite this variability, all members exhibited marked downbeat positioning nystagmus, and magnetic resonance images (MRI) all showed cerebellar atrophy predominantly of the cerebellar vermis. All affected members had a T666M missense mutation in the protein encoded by the CACNA1A gene (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit). Although clinical features associated with the T666M CACNA1A mutation are highly variable, downbeat positioning nystagmus may be an important clinical feature of this disease. - 治療経過を追えた家族性片麻痺性片頭痛I型の1例
鈴木 正宣, 武市 紀人, 藤原 圭志, 津布久 崇, 福田 諭, 矢部 一郎, 佐々木 秀直
Equilibrium Research, 67, 5, 411, 411, (一社)日本めまい平衡医学会, 2008年10月
日本語 - Slowly progressive Foix-Chavany-Marie syndromeと進行性非流暢性失語の症候
大槻 美佳, 中川 賀嗣, 緒方 昭彦, 保前 英希, 高橋 育子, 矢部 一郎, 西澤 正豊, 佐々木 秀直
日本神経心理学会総会プログラム・予稿集, 32回, 111, 111, 日本神経心理学会, 2008年08月
日本語 - [Idiopathic intracranial hypertension without headache detected during a routine health check].
Ken Sakushima, Sachiko Tsuji, Masaaki Niino, Ichiro Yabe, Hidenao Sasaki
Rinsho shinkeigaku = Clinical neurology, 48, 6, 430, 2, 2008年06月, [国内誌]
日本語, 研究論文(学術雑誌), A 47-year-old woman was admitted to our hospital with an optic disc edema detected during a routine health check. On admission, she exhibited bilateral optic disc edema without headache and no visual disturbance. Her cerebrospinal pressure was 440 mmH2O, but we detected no abnormalities in the CSF, blood tests, brain MRI or MRV. Therefore, she was diagnosed with idiopathic intracranial hypertension (IIH). Treatment with acetazolamide reduced the cerebrospinal pressure. We suggest that examination of the optic fundi is sufficient to diagnose both IIH without headache and IIH with atypical symptoms. - Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes
Hiroyuki Soma, Ichiro Yabe, Asako Takei, Naoto Fujiki, Tetsuro Yanagihara, Hidenao Sasaki
MOVEMENT DISORDERS, 23, 8, 1161, 1167, WILEY-LISS, 2008年06月, [査読有り]
英語, 研究論文(学術雑誌), Multiple system atrophy (MSA) is an adult-onset sporadic neurodegenerative disease. Although the etiology of MSA remains obscure, recent studies suggest that oxidative stress is associated with the pathogenesis of MSA. The aim of this study was to evaluate genetic associations between the candidate genes involved in oxidative stress and MSA in a case-control study. We examined 119 Japanese patients with MSA and 123 controls, and genotyped single-nucleotide polymorphisms (SNPs) of the following eight genes: CCAAT/enhancer-binding protein homologous protein, activating transcription factor 3, CCAAT/enhancer-binding protein-P, sequestosome 1 (SQSTM1), cysteinyl-tRNA synthetase, solute carrier family 1A4 (SLC1A4), activating transcription factor 4, and eukaryotic translation initiation factor 4E-binding protein 1 (EIF4EBP1). SLC1A4 SNP +28833 (V398I, rs759458, genotype: Pc = 0.0186, allele: Pc = 0.0303, Pc: P-value with Bonferroni correction), two major haplotypes of SLC1A4 "T-C-C-G" and "T-C-T-A" (Pc = 0.0261 and 0.000768), two-SNP haplotypes of SQSTM1 "C-T" and "A-T" (Pc = 0.0136 and 0.0369), and the most common haplotype of EIF4EBP1 "C-T-G-C" (Pc = 0.0480) showed significant associations. This study revealed genetic associations of SLC1A4, SQSTM1, and EIF4EBP1 with MSA. These results may tend genetic support to the hypothesis that oxidative stress is associated with the pathogenesis of MSA. (C) 2008 Movement Disorder Society. - Baló’s concentric sclerosis-like lesion in the brainstem of a multiple sclerosis patient.
Yabe, I, co-first author, Kishimoto, R, Niino, M, Sato, K, Tsuji, S, Kikuchi, S, Sasaki, H
J Neurol, 255, 5, 760, 761, DR DIETRICH STEINKOPFF VERLAG, 2008年05月, [査読有り]
英語 - Usefulness of the scale for assessment and rating of ataxia (SARA)
Ichiro Yabe, Masaaki Matsushima, Hiroyuki Soma, Rehana Basri, Hidenao Sasaki
JOURNAL OF THE NEUROLOGICAL SCIENCES, 266, 1-2, 164, 166, ELSEVIER SCIENCE BV, 2008年03月, [査読有り]
英語, 研究論文(学術雑誌), In this study, we examined the usefulness and validity of the Scale for the Assessment and Rating of Ataxia (SARA) in assessing cerebellar ataxia in 27 patients with spinocerebellar degeneration. The inter-rater reliability of the SARA scores between the two neurologists was high. The scores on SARA correlated significantly with the Barthel index and scores on the International Cooperative Ataxia Rating Scale (ICARS). Scores on ICARS and SARA did not correlate with the total length traveled (TLT) or the root mean square area (RMS) of body sways measured by body stabilometry. The time required to examine each patient for SARA was approximately 4 min, one-third the time required for ICARS. Our results indicate that SARA is useful for the evaluation of cerebellar ataxic patients in daily examinations and that body sway analysis by stabilometry is influenced by factors other than cerebellar ataxia, such as muscle weakness, which should be taken into account when body sway analysis is used to evaluate the severity of cerebellar ataxia. (C) 2007 Elsevier B.V. All rights reserved. - Spastic paraplegia caused by a novel mutation in the spastin gene (1207C → G, P361R) - Clinical features of a patient without family history
Yuka Machino, Yasumasa Kokubo, Hiroyuki Soma, Ichiro Yabe, Hidenao Sasaki, Shigeki Kuzuhara
Brain and Nerve, 60, 2, 187, 189, 2008年02月, [査読有り]
日本語, 研究論文(学術雑誌), A 52-year-old man with no apparent family history of neurodegenerative diseases developed gait disturbance at age 47. Neurological examination at aged 52 revealed spastic paraplegia, generalized hyperreflexia, decreased of vibration sense in the lower limbs, and pollakisuria. Ocular symptoms, deafness, cerebellar ataxia, extrapyramidal signs, mental deterioration, dementia, peripheral neuropathy, retinal pigment degeneration, ichthyosis and syndactyly were absent. MRI of the brain was normal. A pure form of hereditary spastic paraplegia was diagnosed. Genetic analysis revealed a novel missense mutation in the spastin gene (1207C → G, P361R). The clinical features of this patient were consistent with those of patient with the pure form of SPG4. Gene analysis should be considered for patients with spastic paraplegia even in the absence of any family history. - An autopsy case of Sjögren's syndrome with acute encephalomyelopathy.
Yaguchi, H, Houzen, H, Kikuchi, K, Hata, D, Ura, S, Takeda, T, Yabe, I. (corresponding au, Sasaki, H
Intern Med, 47, 19, 1675, 1680, JAPAN SOC INTERNAL MEDICINE, 2008年, [査読有り]
英語, 研究論文(学術雑誌), Objective This study was to clarify the neuropathological findings of acute encephalomyelopathy with Sjogren's syndrome.
Methods We examined an autopsied case of acute encephalomyelopathy with Sjogren's syndrome.
Case Report A 40-year-old woman developed acute myelopathy and brainstem dysfunction. Magnetic resonance imaging (MRI) revealed high-intensity lesions on T2-weighted axial images (T2WI) in the medulla oblongata and cervical spinal cord. We established a diagnosis of Sjogren's syndrome (SjS) according to the European Community criteria. The patient was treated with intravenous methylprednisolone (500 mg/day) for three days, followed by oral prednisolone. Although her neurological symptoms improved, her general condition deteriorated after the onset of acute colonic pseudo-obstruction and she died of multiple organ failure associated with hemophagocytosis.
Results Autopsy showed atrophy of the secretory glands and an accumulation of lymphocytes around the ducts, confirming the diagnosis of Sjogren's syndrome. Neuropathological examination revealed multifocal lesions in the cervical spinal cord and medulla, along with scattered perivascular lymphocytic infiltration. In addition, there was demyelination, spongy change and axonal swelling in the white matter, but no remarkable vasculitic changes were seen in the central nervous system.
Conclusion Although the steroid therapy may have had a significant influence, the main pathological finding in this case was not vasculitis, but rather axonal degeneration with spongy change and axonal swelling. - Secretion of DJ-1 into the serum of patients with Parkinson’s disease.
Maita, S, Tsuji, S, Yabe, I, Hamada, S, Ogata, A, Maita, H, Iguchi-Ariga, S.M.M, Sasaki, H, Ariga H
Neurosci Lett, 431, 1, 86, 89, ELSEVIER IRELAND LTD, 2008年01月, [査読有り]
英語, 研究論文(学術雑誌), DJ-1 was initially identified by us as a novel oncogene and has later been found to be a causative gene for familial Parkinson's disease PARK7. DJ-1 plays role in transcriptional regulation and in oxidative stress function, and loss of its function is thought to be related to onset age, mode of progression and clinical severity of both familial and sporadic forms of Parkinson's disease (PD). DJ-1 is localized both in the cytoplasm and nucleus, and it has been reported to be secreted into the serum or plasma of patients with breast cancer, melanoma, familial amyloidotic polyneuropathy and stroke. In this study, levels of DJ-1 secreted into the serum of healthy controls and patients with sporadic PD were examined by using a DJ-1 ELISA kit, and the level of oxidative stress in the serum was also measured. The results showed that DJ-1 was secreted into the serum of both healthy controls and PD patients. There was no significant difference between the levels of secreted DJ-1 in two groups, and correlations of levels of secreted DJ-1 with age, clinical severity of PD and level of oxidative stress were not found. (C) 2007 Elsevier Ireland Ltd. All rights reserved. - 甲状腺機能正常な“橋本病”に伴う進行性小脳性運動失調症の臨床的検討〜小脳性運動失調における橋本病の自己抗体の関わりについて〜
矢部一郎, 佐藤和則, 相馬広幸, 佐々木秀直
臨床神経学, 48, 9, 640, 645, Societas Neurologica Japonica, 2008年, [査読有り]
日本語, 研究論文(学術雑誌), To determine the frequency of cerebellar ataxia patients with autoantibodies for Hashimoto's disease, we analyzed 68 patients who were examined serum test for autoantibodies of Hashimoto disease among 178 cerebellar ataxia patients who visited our neurology clinic from January 2005 until December 2007. In these 68 patients, 8 had autoantibodies for Hashimoto's disease. Five of these 8 patients were diagnosed with hereditary spinocerebellar ataxia by genetic analysis. Moreover, one patient was diagnosed with probable multiple system atrophy by neurological examination. Cerebellar ataxic disease of known causes was ruled out for the remaining two cases
they were euthyroid and their cerebellar ataxia was slowly progressive and were diagnosed with cortical cerebellar atrophy. Although Hashimoto's disease may associate with cerebellar ataxia because cortical cerebellar atrophy is a heterogeneous condition, this association is not clear at present. - Skeletal muscle energy metabolism in Machado-Joseph disease
I. Yabe, K. K. Tha, S. Terae, K. Okita, H. Sasaki
MOVEMENT DISORDERS, 23, 1, S148, S148, WILEY-LISS, 2008年, [査読有り]
英語 - Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families
Rehana Basri, Ichiro Yabe, Hiroyuki Soma, Hidenao Sasaki
JOURNAL OF HUMAN GENETICS, 52, 10, 848, 855, NATURE PUBLISHING GROUP, 2007年10月, [査読有り]
英語, 研究論文(学術雑誌), Autosomal dominant cerebellar ataxia (ADCA) is a genetically heterogeneous group of neurodegenerative disorders. To shed further light on the clinical and genetic spectrum of ADCA in Japan, we conducted a study to determine the frequency of a new variety of different subtypes of SCAs among ADCA patients. This current study was carried out from April 1999 to December 2006 on the basis of patients with symptoms and signs of ADCA disorders. PCR and/or direct sequencing were evaluated in a total of 113 families. Among them, 35 families were found to have the mutation associated with SCA6, 30 with SCA3, 11 with SCA1, five with SCA2, five with DRPLA, and one with SCA14. We also detected the heterozygous -16C -> T single nucleotide substitution within the puratrophin-1 gene responsible for 16q22.1-linked ADCA in ten families. In this study, unusual varieties of SCA, including 27, 13, 5, 7, 8, 12, 17, and 16 were not found. Of the 113 patients, 14% had as yet unidentified ADCA mutations. The present study validates the prevalence of genetically distinct ADCA subtypes based on ethnic origin and geographical variation, and shows that 16q-linked ADCA has strong hereditary effects in patients with ADCAs in Japan. - 免疫性ニューロパチーの臨床像に関する検討
廣谷真, 辻幸子, 新野正明, 矢部一郎, 佐々木秀直
末梢神経, 18, 286, 289, 2007年, [査読有り]
日本語 - Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes
H. Soma, I. Yabe, A. Takei, N. Fujiki, T. Yanagihara, H. Sasaki
PARKINSONISM & RELATED DISORDERS, 13, S32, S32, ELSEVIER SCI LTD, 2007年, [査読有り]
英語 - X-linked Charcot-Marie-Tooth Disease (CMTX) in a Severely Affected Female Patient with Scattered Lesions in Cerebral White Matter
Rehana Basri, Ichiro Yabe, Hiroyuki Soma, Masaaki Matsushima, Sachiko Tsuji, Hidenao Sasaki
INTERNAL MEDICINE, 46, 13, 1023, 1027, JAPAN SOC INTERNAL MEDICINE, 2007年, [査読有り]
英語, 研究論文(学術雑誌), Charcot-Marie-Tooth neuropathy (CMT) is an inherited degenerative disorder of the peripheral nervous system that results in slowly progressive distal muscle weakness, atrophy and loss of proprioception in the affected areas. X-linked CMT (CMTX) has been localized to the pericentric region of the X chromosome. CMTX neuropathy is usually associated with mutations in exon 2 of the gap junction protein beta 1 (GJB1) gene. GJB1 is a gap junction protein expressed in various cells including oligodendrocytes, astrocytes and myelinating schwann cells. Here, we report a female case of CMTX with a GJB1 mutation. The patient was severely clinically affected and exhibited both the features of demyelination and axonopathy. This is the first female patient with CMTX who showed permanent atypical scattered lesions in cerebral white matter of the brain on T2-weighted magnetic resonance images (MRI), which is very rare. The existence of a female patient with severe clinical symptoms may show that gain of function mechanism also leads to the disorders seen in these patients. - MSA-C is the predominant clinical phenotype of MSA in Japan: Analysis of 142 patients with probable MSA
Ichiro Yabe, Hiroyuki Soma, Asako Takei, Naoto Fujiki, Tetsuro Yanagihara, Hidenao Sasaki
JOURNAL OF THE NEUROLOGICAL SCIENCES, 249, 2, 115, 121, ELSEVIER SCIENCE BV, 2006年11月, [査読有り]
英語, 研究論文(学術雑誌), We investigated the clinical features and mode of disease progression in 142 patients with probable multiple system atrophy (MSA) according to the Consensus Criteria. The subjects included 84 men and 58 women with a mean age at onset of 58.2 +/- 7.1 years (range: 38-79 years). Cerebellar signs were detected in 87.3% of these patients at the time of initial examination, and were found in 95.1 % of them at latest follow-up. MSA-C was diagnosed in 83.8% of the patients at their first examination. Parkinsonism was initially detected in 28.9% of the patients, increasing to 51.4% at the latest follow-up. Among all of the subjects, only 16.2% were classified as having MSA-P on initial examination. At the latest follow-up, parkinsonian features had become predominant over cerebellar features in 24.6% of the 65 patients with MSA-C who were followed for more than 3 years. Although parkinsonisin usually masked the signs of cerebellar involvement in MSA-C patients, none of the patients with MSA-P at an early stage showed predominance of cerebellar features at the latest follow-up. Parkinsonism is the predominant feature of MSA among Western patients, even at an early stage, but this study showed that cerebellar deficits are the main feature in Japanese patients. This difference of disease manifestations between ethnic groups suggests that genetic factors may influence the clinical phenotype of MSA. (c) 2006 Elsevier B.V. All rights reserved. - Four mutations of the spastin gene in Japanese families with spastic paraplegia
Rehana Basri, Ichiro Yabe, Hiroyuki Soma, Asako Takei, Hiroyuki Nishimura, Yuka Machino, Yasumasa Kokubo, Masafumi Kosugi, Ryuichirou Okada, Motohiro Yukitake, Hisao Tachibana, Yasuo Kuroda, Shigeki Kuzuhara, Hidenao Sasaki
JOURNAL OF HUMAN GENETICS, 51, 8, 711, 715, SPRINGER TOKYO, 2006年08月, [査読有り]
英語, 研究論文(学術雑誌), Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders characterized by slowly progressive spasticity and weakness of the lower limbs. HSP is caused by failure of development or selective degeneration of the corticospinal tracts, which contain the longest axons in humans. The most common form of HSP is caused by mutations of the spastin gene (SPAST), located on chromosome 2p21-p22, which encodes spastin, one of the ATPases associated with diverse cellular activities (AAA). In this study, we detected four causative mutations of SPAST among 14 unrelated patients with spastic paraplegia. Two missense mutations (1447A -> G, 1207C -> G) and two deletion mutations (1465delT, 1475-1476delAA) were located in the AAA cassette region. Three of these four mutations were novel. Previous reports and our results suggest that the frequency of SPAST mutations is higher among Japanese patients with autosomal dominant HSP, although SPAST mutations are also observed in patients with sporadic spastic paraplegia. - Brain activation during detrusor overactivity in patients with Parkinson’s disease: a positron emission tomography study.
Kitta, T, Kakizaki, H, Furuno, T, Moriya, K, Tanaka, H, Shiga, T, Tamaki, N, Yabe, I, Sasaki, H, Nonomura, K
J Urol, 175, 3, 994, 998, LIPPINCOTT WILLIAMS & WILKINS, 2006年03月, [査読有り]
英語, 研究論文(学術雑誌), Purpose: Patients with Parkinson's disease often have urine storage symptoms, such as urinary urgency, frequency and incontinence, which are induced by detrusor overactivity. However, little is known of the mechanisms inducing detrusor overactivity in this disease. We have previously examined the human brain response to bladder filling in healthy male volunteers using positron emission tomography. We hypothesized that brain activation patterns in response to bladder filling would be different in patients with Parkinson's disease.
Materials and Methods: Nine male patients with Parkinson's disease were catheterized via the urethra for bladder filling and intravesical pressure monitoring. We performed positron emission tomography, consisting of tasks 1 and 2. For task 1 the bladder was maintained empty via the urethral catheter. For task 2 room temperature water was dripped for bladder filling until the onset of detrusor overactivity. Data acquisition for task 2 was done during detrusor overactivity. Data on each scan were summed on a computer and further analyzed using a statistical parametric mapping procedure. Results: Significant brain activation during detrusor overactivity was found in the periaqueductal. gray, supplementary motor area, cerebellar vermis, insula, putamen and thalamus. The most prominent activation was found in the cerebellum. The pons was not activated during detrusor overactivity.
Conclusions: Alteration in brain activation sites in response to bladder filling may be related to the pathophysiology of detrusor overactivity in patients with Parkinson's disease. - Brain SPECT analysis by 3D-SSP and phenotype of Parkinson's disease
Y Mito, K Yoshida, Yabe, I, K Makino, K Tashiro, S Kikuchi, H Sasaki
JOURNAL OF THE NEUROLOGICAL SCIENCES, 241, 1-2, 67, 72, ELSEVIER SCIENCE BV, 2006年02月, [査読有り]
英語, 研究論文(学術雑誌), Objectives: We hypothesize that the regional pattern of blood flow reduction in the brain is different between tremor-dominant Parkinson's disease (PD) and postural instability gait difficulty (PIGD)-dominant PD. We therefore investigated the association of phenotypes in untreated PD with brain perfusion on SPECT using three-dimensional stereotactic surface projection (3D-SSP) technique.
Patients and methods: Thirty-three patients who had PD without dementia (12 men and 21 women with a mean age of 67.1 +/- 6.4 years) were included in this study. Their symptoms were rated using the Unified Parkinson's Disease Rating Scale (UPDRS). Patients were grouped in two phenotypes: tremor and PIGD-dominant groups based on UPDRS components. Around the same time, all patients were examined by N-isopropyl-p[I-123] iodoamphetamine single photon emission computed tomography (I-123-IMP SPECT), and obtained images were analyzed with 3D-SSP using an image-analysis software, NEUROSTAT. Data on brain surface perfusion extracted by 3D-SSP analysis were compared between the PD patients and the normal control group. The same comparisons were made for subgroups of PD patients.
Results: Cerebral perfusion was decreased at the anterior cingulate cortex and primary visual cortex of the PD patients, and especially by the pixel-by-pixel comparison, perfusion was significantly decreased at the right anterior cingulate cortex compared with the normal controls. In the PIGD-dominant group, more severe hypoperfusion was seen at the same regions. In the tremor-dominant group, significant hypoperfusion was not seen compared with the normal controls.
Conclusions: The regional pattern of blood flow reduction in the brain was found to be different between tremor-dominant PD and PIGD-dominant PD. These regional differences were considered to suggest different and disease-specific combinations of underlying pathophysiological and neurochemical processes. (c) 2005 Elsevier B.V. All rights reserved. - HLA-DPB1*05011 is not uniquely associated with opticospinal multiple sclerosis in Japanese patients. Important role of DPB1*0301
T Fukazawa, S Kikuchi, R Miyagishi, Y Miyazaki, Yabe, I, T Hamada, H Sasaki
MULTIPLE SCLEROSIS, 12, 1, 19, 23, HODDER ARNOLD, HODDER HEADLINE PLC, 2006年02月, [査読有り]
英語, 研究論文(学術雑誌), Apart from its unique lesion distribution pattern, the opticospinal form of multiple sclerosis (OSMS) is distinct among Japanese patients who satisfy the diagnostic criteria of MS. OSMS has been suggested to be strongly associated with HLA-DPB1*0501 in Japanese. However, association of DPB1*0301 with non-OSMS and lack of DPB1*0301 in OSMS were also reported. To verify the role of DPB1*0501 and DPB1*0301 in Japanese MS patients we determined the frequencies of these alleles in 26 patients with OSMS, 167 with non-OSMS and 156 normal subjects, who were all residents of Hokkaido, the northernmost island of Japan. All (100%) OSMS were negative for DPB1*0301 while 32 (19%) of the non-OSMS were positive for the allele. In DPB1*0301-negatives, the frequencies of DPB1*0501 in OSMS (85%) and non-OSMS (82%) were similar, but both were higher than in the controls (66%). In DPB1*0301-positives, the frequency of DPB1*0501 was low but similar in non-OSMS (12/32; 38%) and controls (6/14; 43%). Periventricular white matter lesions (PVL) were noted in 31 of 32 (97%) DPB1*0301-positive non-OSMS patients but in only 22 out of 135 (16%) DPB1*0301-negative non-OSMS patients and two out of 26 (8%) OSMS patients. Our findings indicate that DPB1*0501 plays an important role in the development of MS in general, but not in OSMS. The strong association of DPB1*0501 with OSMS may be due to the over-representation of the DPB1*0301 allele among individuals in the non-OSMS group. In addition, DPB1*0301 might be relevant to the development of periventricular lesions in Japanese patients with MS. - Brain SPECT analysis by 3D-SSP and clinical features of Parkinson's disease.
Mito, Y, Yoshida, K, Yabe, I, Makino, K, Tashiro, K, Kikuchi, S, Sasaki, H
Hokkaido J Med Sci, 81, 15, 23, 2006年, [査読有り]
英語 - Heredity in multiple system atrophy
H Soma, Yabe, I, A Takei, N Fujiki, T Yanagihara, H Sasaki
JOURNAL OF THE NEUROLOGICAL SCIENCES, 240, 1-2, 107, 110, ELSEVIER SCIENCE BV, 2006年01月, [査読有り]
英語, 研究論文(学術雑誌), We investigated the family histories of 157 Japanese patients with probable or possible multiple system atrophy (MSA). A family history of neurodegenerative disorders was only detected in three MSA patients (1.9%). We evaluated these patients by careful neurological examination, neuroimaging studies, and genetic studies to exclude hereditary spinocerebellar ataxia with a similar clinical phenotype to MSA. The results indicated that one of them had a family history of MSA. Although the familial presence of neurodegenerative disorders is rare in MSA patients, the existence of such cases suggests that MSA may have a genetic background. (c) 2005 Elsevier B.V. All rights reserved. - Lambert-Eaton筋無力症候群3例に対する3,4-diaminopyridine治療経験
矢部一郎, 佐藤和則, 宮崎雄生, 辻 幸子, 佐々木秀直
神経治療学, 23, 433, 438, 2006年, [査読有り]
日本語 - 改訂脊髄小脳変性症のすべて-最近の薬物療法
矢部 一郎
難病と在宅ケア, 12, 61, 64, 2006年, [査読有り]
日本語 - Proteasome inhibition induces selective motor neuron death in organotypic slice cultures
S Tsuji, S Kikuchi, K Shinpo, J Tashiro, R Kishimoto, Yabe, I, S Yamagishi, M Takeuchi, H Sasaki
JOURNAL OF NEUROSCIENCE RESEARCH, 82, 4, 443, 451, WILEY-LISS, 2005年11月, [査読有り]
英語, 研究論文(学術雑誌), A dysfunctional ubiquitin-proteasome system recently has been proposed to play a role in the pathogenesis of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS). We have shown previously that spinal motor neurons are more vulnerable to proteasome inhibition-induced neurotoxicity, using a dissociated culture system. To confirm this toxicity, we used organotypic slice cultures from rat neonatal spinal cords, which conserve the structure of the spinal cord in a horizontal plane, enabling us to identify motor neurons more accurately than in dissociated cultures. Furthermore, such easy identifications make it possible to follow up the course of the degeneration of motor neurons. When a specific proteasome inhibitor, lactacystin (5 mu M), was applied to slice cultures, proteasome activity of a whole slice was suppressed below 30% of control. Motor neurons were selectively damaged, especially in neurites, with the increase of phosphorylated neurofilaments. They were eventually lost in a dose-dependent manner (1 mu M, P < 0.05; 5 mu M, P < 0.01). The low capacity of Ca2+ buffering is believed to be one of the factors of selectivity for damaged motor neurons in ALS. In our system, negative staining of Ca2+-binding proteins supported this notion. An intracellular Ca2+ chelator, BAPTA-AM (10 mu M), exerted a significant protective effect when it was applied with lactacystin simultaneously (P < 0.01). We postulate that proteasome inhibition is an excellent model for studying the mechanisms underlying selective motor neuron death and searching for new therapeutic strategies in the treatment of ALS. (c) 2005 Wiley-Liss, Inc. - TNF-related apoptosis inducing ligand (TRAIL) gene polymorphism in Japanese patients with multiple sclerosis
S Kikuchi, R Miyagishi, T Fukazawa, Yabe, I, Y Miyazaki, H Sasaki
JOURNAL OF NEUROIMMUNOLOGY, 167, 1-2, 170, 174, ELSEVIER SCIENCE BV, 2005年10月, [査読有り]
英語, 研究論文(学術雑誌), TNF-related apoptosis inducing ligand (TRAIL) has been reported to induce apoptosis of autoreactive T cells and other inflammatory cells, and thus, it is a strong candidate gene for involvement in the development of autoimmune diseases. We investigated single nucleotide polymorphisms (SNPs) in the coding region of the gene at position 1595 in exon 5 in 128 Japanese patients with conventional/classical multiple sclerosis (MS) and 158 healthy controls. Patients with optico-spinal MS (OSMS) or atypical clinical attacks were excluded from the study. The frequency of CC genotype at position 1595 was significantly different between patients and controls (p=0.0027), and the C allele was more prevalent in the patients than in the controls (p=0.0138, OR=1.546, 95% CI=1.092-2.188). Logistic analysis, adjusted for HLA-DRB1*1501-positivity, revealed the independent association of the CC genotype with susceptibility to MS (p=0.0006, OR=2.393, 95% CI=1.453-3.943). There were no significant associations between +1595 polymorphism and the clinical features of MS. The results indicate that the presence of the CC genotype at position 1595 in exon 5 represents a higher risk of MS. (C) 2005 Elsevier B.V. All rights reserved. - Treatment of cerebellar ataxia with 5-HT1A agonist
A Takei, T Hamada, Yabe, I, H Sasaki
CEREBELLUM, 4, 3, 211, 215, TAYLOR & FRANCIS LTD, 2005年09月, [査読有り]
英語, Effective, pharmacologic approaches to the treatment of cerebellar ataxia are lacking or inadequate. We recently reported preliminary evidence that tandospirone citrate ( tandospirone), a 5-HT1A agonist, improved cerebellar ataxia in patients with Machado-Joseph disease (MJD). In the course of that study, we found that such treatment also alleviated the pain associated with cold sensations in the legs, insomnia, anorexia, and depression, all of which are thought to be mediated through activation of the 5-HT1A receptor. In this paper, we reviewed the few published clinical trials that involved the use of 5-HT 1A receptor agonists for the treatment of cerebellar ataxia, and discussed the current theories regarding their mechanism of action. Cortical cerebellar atrophy (CCA) was reported, in a double-blind study, to be amenable to treatment with tandospirone. Other types of spinocerebellar degeneration (SCD) i.e., olivopontocerebellar atrophy ( OPCA) and Machado-Joseph disease ( MJD) have also been reported to respond to the drug, but these have been small studies. Responsive patients exhibited only mild ataxia. The doses of 5-HT1A agonists that have been used successfully ranged from 12.5 mg/day to 60 mg/day ( or 1 mg/kg), and were well tolerated by most patients. - Brain 3D-SSP SPECT Analysis in dementia with Lewy bodies, Parkinson’s disease with and without dementia, and Alzheimer’s disease.
Mito, Y, Yoshida, K, Yabe, I, Makino, K, Hirotani, M, Tahsiro, K, Kikuchi, S, Sasaki, H
Clin Neurol Neurosurg, 107, 5, 396, 403, ELSEVIER SCIENCE BV, 2005年08月, [査読有り]
英語, 研究論文(学術雑誌), Objectives: Cerebral blood flow was compared among patients with dementia with Lewy bodies (DLB), Parkinson's disease with dementia (PDD), Parkinson's disease without dementia (PD), and Alzheimer's disease (AD) using three-dimensional stereotactic surface projection (3D-SSP) analysis.
Purpose: We attempt to clarify the difference of reduction pattern on SPECT among patients having DLB, PDD, PD, AD.
Patients and Methods: Six patients with DLB, 7 patients with PDD who were matched with the DLB patients for age, unified Parkinson's disease rating scale-III (UPDRS-III) score, and degree of cognitive function disorders, 21 patients with PD who were matched with the DLB patients for age, UPDRS-III score, 12 patients with AD who were matched with the DLB patients for age and degree of cognitive function disorders, and 12 control subjects. All patients were examined by N-isopropyl-p[I-123] iodoamphetamine single photon emission computed tomography (I-123-IMP SPECT), and obtained images were analyzed with 3D-SSP using an image-analysis software, iSSP ver. 3.5.
Results: Although DLB and PDD showed similar cerebral perfusion reduction pattern at the lateral parietal association and lateral temporal association and precuneus on SPECT by the pixel-by-pixel comparison, greater perfusion reduction was observed in DLB than in PDD. Cerebral perfusion was decreased at the occipital lobe of the DLB patients compared with the AD patients.
Conclusions: The regional pattern of blood flow reduction in the brain was found to be different among DLB, PD, and AD. Greater blood flow reduction was observed in DLB, although DLB and PDD showed similar reduction pattern. These regional differences were considered to suggest different and disease-specific combinations of underlying pathological and neurochernical processes. (c) 2004 Elsevier B.V. All rights reserved. - CSF pleocytosis and expansion of spinal lesions in Japanese multiple sclerosis with special reference to the new diagnostic criteria
T Fukazawa, S Kikuchi, R Miyagishi, Y Miyazaki, H Fukaura, Yabe, I, T Hamada, K Tashiro, H Sasaki
JOURNAL OF NEUROLOGY, 252, 7, 824, 829, DR DIETRICH STEINKOPFF VERLAG, 2005年07月, [査読有り]
英語, 研究論文(学術雑誌), New diagnostic criteria for multiple sclerosis ( MS) were recently proposed from the international panel on the diagnosis of MS, and they include exclusion criteria, such as lesions extending over more than two vertebral segments on spinal MRI and CSF pleocytosis of more than 50/mm(3). We reviewed the clinical features of 158 patients who satisfied the diagnostic criteria for MS except for having the above atypical paraclinical findings. All patients exhibited two or more clinical attacks and objective clinical evidence of multiple lesions without any evidence of other disorders. Thirty-three (20.9%) patients had one or both atypical paraclinical findings. Twenty-one out of the 33 patients were classified as having optico-spinal MS (OSMS), and the other 12 as non-OSMS patients with atypical large expanding or destructive cerebral, cerebellar or brainstem lesions on MRI as well as one or both atypical paraclinical findings. Based on this heterogeneity in clinical findings in MS, there is an urgent need to develop a common general concept of the "MS" syndromes, and the ethnic-related heterogeneity should be considered in the revised criteria for the diagnosis of MS. - The clinical and genetic spectrum of spinocerebellar ataxia 14
DH Chen, PJ Cimino, LPW Ranum, HY Zoghbi, Yabe, I, L Schut, RL Margolis, HP Lipe, A Feleke, M Matsushita, J Wolff, C Morgan, D Lau, M Fernandez, H Sasaki, WH Raskind, TD Bird
NEUROLOGY, 64, 7, 1258, 1260, LIPPINCOTT WILLIAMS & WILKINS, 2005年04月, [査読有り]
英語, 研究論文(学術雑誌), Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C gamma gene (PRKCG), rather than a nucleotide repeat expansion. In this large-scale study of PRKCG in patients with ataxia, two new missense mutations, an in-frame deletion, and a possible splice site mutation were found and can now be added to the four previously described missense mutations. The genotype/phenotype correlations in these families are described. - CTLA-4 gene polymorphism is not associated with conventional multiple sclerosis in Japanese
T Fukazawa, S Kikuchi, R Miyagishi, M Niino, Yabe, I, T Hamada, H Sasaki
JOURNAL OF NEUROIMMUNOLOGY, 159, 1-2, 225, 229, ELSEVIER SCIENCE BV, 2005年02月, [査読有り]
英語, 研究論文(学術雑誌), We investigated the polymorphisms of exon 1 (+49A/G) and promoter (-318C/T and -651C/T) regions of the CTLA-4 gene in 133 Japanese patients with conventional/classical multiple sclerosis (MS) and 156 healthy controls. Patients with optico-spinal MS (OSMS) or atypical clinical attacks were excluded from the study. There was no significant difference in the distribution of polymorphisms between patients and controls. Furthermore, there were no associations between polymorphisms and clinical characteristics, such as age at onset, disease prognosis, and HLA profiles. Our results suggest that CTLA-4 gene polymorphisms are neither conclusively related to susceptibility nor to the clinical characteristics of MS, especially in Japanese patients with conventional/classical form and clinical features identical to those of their counterparts in Western countries. (C) 2004 Elsevier B.V. All rights reserved. - No association between FMR1 premutations and multiple system atrophy
Yabe, I, H Soma, A Takei, N Fujik, H Sasaki
JOURNAL OF NEUROLOGY, 251, 11, 1411, 1412, DR DIETRICH STEINKOPFF VERLAG, 2004年11月, [査読有り]
英語 - Serum melatonin levels and insomnia in patients with Machado-Joseph Disease
Asako Takei, Toshiyuki Fukazawa, Takeshi Hamada, Hiroyuki Sohma, Ichiro Yabe, Hidenao Sasaki, Masako Okawa
Sleep and Biological Rhythms, 2, 3, 209, 214, 2004年10月, [査読有り]
英語, 研究論文(学術雑誌), We previously reported a patient with Machado-Joseph Disease (MJD) who had severe insomnia and a low serum melatonin (MLT) level, and whose insomnia was alleviated by oral MLT replacement therapy. The aims of this study were to examine whether patients with MJD are likely to have insomnia, and whether there is a relationship between the degree of insomnia and the serum MLT level among patients with MJD. This study included 8 patients with MJD. A 58-year-old-patient with cervical spondylosis was also included in this study to check the condition of the test room for sleeping. All patients filled out the Japanese version of Pittsburgh Sleep Quality Index (PSQI-J) questionnaire. We obtained blood samples at 12:00 and 24:00 hours to measure the MLT level. We checked the sleep condition of the patient once an hour and recorded the grade in sleep-logs: the grades of sleep condition were asleep, sleepy, or awake. Statistical analyses were performed to search for correlations between the PSQI score and the serum MLT level or actual sleep time using Spearman's rank correlation coefficient. Seven of the 8 MJD patients had a total PSQI score of above 5.5 (cut-off level). The daytime MLT level (at 12:00 hours) was below 2.8 pg/mL in all 8 patients, whereas the mean night-time MLT level (at 24:00 hours) of the MJD patients (23.6 ± 17.5 pg/mL) was lower than that of the control patient (43.0 pg/mL) and also lower than the reported cut-off level among healthy people aged 30-50 years (55.5 pg/mL). There was a negative correlation between the total PSQI score and the serum MLT level among the MJD patients (P <
0.05). Our results show that a low serum MLT level may contribute to insomnia in patients with MJD. © 2004 Japanese Society of Sleep Research. - Attack-related severity: a key factor in understanding the spectrum of idiopathic inflammatory demyelinating disorders
T Fukazawa, S Kikuchi, M Niino, Yabe, I, R Miyagishi, H Fukaura, T Hamada, K Tashiro, H Sasaki
JOURNAL OF THE NEUROLOGICAL SCIENCES, 225, 1-2, 71, 78, ELSEVIER SCIENCE BV, 2004年10月, [査読有り]
英語, 研究論文(学術雑誌), Understanding the spectrum of idiopathic inflammatory demyelinating disorders (IIDD) is a fundamental issue for the diagnosis and treatment of these disorders as well as for the approach to their pathogenesis. The spectrum of IIDD is usually classified according to clinical course and lesion distribution. We compared the demographic features, clinical characteristics, laboratory findings, and genetic backgrounds between 193 Japanese patients with and without clinically or radiographically fulminant attacks who all satisfied the diagnostic criteria for multiple sclerosis (MS). "Fulminant attacks" in the current study represent attack-related clinically or radiologically severe relapses but do not necessarily mean severe disability. Patients with fulminant attacks were clinically and immunogenetically distinct from those free of such attacks, and the previously described characteristics of the opticospinal form of MS (OSMS) or neuromyelitis optica (NMO) were mostly shared by patients with fulminant attacks. HLA profiles were similar among patients with fulminant attacks irrespective of the lesion distributions. The GG homozygous and G alleles of the CTLA4 gene A/G coding SNP at position 49 in exon 1 were significantly more common in patients with fulminant attacks than in those without. Attack-related severity may be an important factor if validated by prospective studies defining criteria and establishing relationships to disease course and treatment regimens. (C) 2004 Elsevier B.V. All rights reserved. - 免疫グロブリン大量静注療法後に末梢性顔面神経麻痺をきたしたFisher症候群の1例
宮崎 雄生, 相馬 広幸, 田代 淳, 辻 幸子, 矢部 一郎, 緒方 昭彦, 菊地 誠志, 田代 邦雄, 佐々木 秀直
神経治療学, 21, 3, 307, 307, (一社)日本神経治療学会, 2004年05月
日本語 - 片頭痛発作を伴う優性遺伝性小脳皮質萎縮症
相馬広幸, 矢部一郎, 武井麻子, 佐々木秀直
神経内科, 60, 483, 486, 2004年, [査読有り]
日本語 - Effects of tandospirone on "5-HT1A receptor-associated symptoms" in patients with Machado-Josephe disease - An open-label study
A Takei, T Fukazawa, T Hamada, H Sohma, Yabe, I, H Sasaki, K Tashiro
CLINICAL NEUROPHARMACOLOGY, 27, 1, 9, 13, LIPPINCOTT WILLIAMS & WILKINS, 2004年01月, [査読有り]
英語, Background: We investigated the frequencies of the symptoms such as "ataxia, depression, insomnia, anorexia, and pain," that have been reported to be associated with 5-HT1A receptor, and the effect of tandospirone citrate (tandospirone: 5-HT1A agonist) in patients with Machado-Joseph disease (MJD).
Methods: Ten MJD patients received tandospirone (15-30mg/d) for seven weeks. During that time, they were evaluated weekly using the Ataxia Rating Scale (ARS) and Total Length Traveled (TLT) by Stabilimetry tests, the Self-rating Depression Scale (SDS), which in addition to evaluating their level of depression, also evaluated their degree of insomnia and anorexia, and a pain questionnaire.
Results: Before tandospirone therapy, all patients displayed cerebellar ataxia, while insomnia, and leg pain was observed in 7 patients, depression in 6 patients, and anorexia was observed in 2 patients. In response to treatment, 7 of the 10 patients who were ataxic showed a reduction in their ARS, while 3 of 6 patients showed a reduction in their SDS, and 5 of 7 patients showed an alleviation of their insomnia and leg pain. Both of the affected patients showed a marked improvement in their anorexia. A stabilimetry test could be performed in 7 patients, 5 of whom showed a reduction in TLT.
Conclusions: Our data indicate that the patients with MJD are prone to manifest 5-HT1A receptor-associated symptoms, and tandospirone is a useful drug for these symptoms in patients with MJD, though a double-blind study is needed. - Post-encephalitic parkinsonism: Clinical features and experimental model
Akihiko Ogata, Naoya Hamaue, Masaru Minami, Ichiro Yabe, Seiji Kikuchi, Hidenao Sasaki, Kunio Tashiro
Biogenic Amines, 18, 3-6, 339, 347, 2004年, [査読有り]
英語, 研究論文(学術雑誌), Post-encephalitic parkinsonism has been well documented by now. Recently, an Indian group reported some post-encephalitic parkinsonism patients that resembled Japanese encephalitis cases with bilateral substantia nigra lesions that were detected by MRI. Post-encephalitis parkinsonism has been described following Coxsackie B virus, influenza A, poliovirus and measles virus infections. The possible involvement of virus infection has also been supported by experimental animal models. We have demonstrated pathological and to a certain extent clinical features consistent with Parkinson's disease following infection of rats with Japanese encephalitis virus (JEV). We evaluated new treatments with Parkinson's disease using this model. It was reported that tremor primarily involving the fingers, tongue and eyelids, muscle rigidity and masked face as the clinical features by JEV. Recently brainstem lesions produced by West Nile virus, which is a flavivirus like JEV, were documented by MRI. In the future, post-encephalitic parkinsonism may be found elsewhere in the world. In adult Fischer rats sacrificed 12 weeks after infection with JEV at the age of 13 days, neuronal loss with gliosis was confined mainly to the zona compacta of the bilateral substantia nigra, without lesions in the cerebral cortex and cerebellum. Furthermore, the most severe lesions were in the central part of zona compacta
the lateral cell groups were less affected. Thus, the distribution of the pathologic lesions in infected rats resembled those found in Parkinson's disease. JEV-infected rats showed marked bradykinesia. Significant behavioral improvement was observed upon administration of L-DOPA and monoamine oxidase (MAO) inhibitor. The findings suggest that JEV infection of rats under the conditions described may serve as a model of virus induced Parkinson's disease. © VSP 2004. - 内科診療最前線2005-この1年の動向を踏まえて-中枢神経疾患
矢部 一郎, 相馬広幸, 宮崎雄生, 辻 幸子, 緒方昭彦, 佐々木秀直
内科, 60, 1077, 1084, 2004年, [査読有り]
日本語 - C-C chemokine receptor 2 gene polymorphism in Japanese patients with multiple sclerosis
R Miyagishi, M Niino, T Fukazawa, Yabe, I, S Kikuchi, K Tashiro
JOURNAL OF NEUROIMMUNOLOGY, 145, 1-2, 135, 138, ELSEVIER SCIENCE BV, 2003年12月, [査読有り]
英語, 研究論文(学術雑誌), C-C chemokine receptor 2 (CCR2) is a receptor for chemoattractant protein-1 (MCP-1) and associated with infiltrating lymphocytes in chronic active multiple sclerosis (MS) lesions. To study the role of CCR2 gene in the development of MS, we investigated the CCR2-64I polymorphism in 122 MS patients and 112 healthy controls in a Japanese population. We also analysed the influence of CCR2-64I polymorphism on the clinical course, age at disease onset, and severity. The distribution of the CCR2-64I allele was significantly different between patients and controls (p = 0.0187), and the 64I/64I homozygote was significantly less common in MS than in control. Logistic analysis, adjusted for HLA-DRB1*1501-positivity, revealed negative association between the CCR2-64I and MS (p = 0.0204). There were no significant associations between CCR2 polymorphism and the clinical features of MS. Our results indicate that the presence of CCR2-64I allele seems to provide protection against the development of MS. (C) 2003 Elsevier B.V All rights reserved. - 'Drug holiday' effects of tandospirone in a patient with Machado-Joseph disease
A Takei, T Fukazawa, T Hamada, Yabe, I, K Tashiro
PSYCHIATRY AND CLINICAL NEUROSCIENCES, 57, 6, 607, 608, BLACKWELL PUBLISHING ASIA, 2003年12月, [査読有り]
英語 - Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma
Yabe, I, H Sasaki, DH Chen, WH Raskind, TD Bird, Yamashita, I, S Tsuji, S Kikuchi, K Tashiro
ARCHIVES OF NEUROLOGY, 60, 12, 1749, 1751, AMER MEDICAL ASSOC, 2003年12月, [査読有り]
英語, 研究論文(学術雑誌), Background: We previously discovered spinocerebellar ataxia type 14 (SCA14) in a single Japanese family with an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. The latter manifestation is selectively observed in patients with early onset. We mapped the locus to chromosome 19q13.4-qter, but the etiologic gene was not known. Recently, a mutation in the protein kinase C gamma gene (PRKCG) was identified in a US family of English and Dutch ancestry with autosomal dominant SCA whose disease mapped to a region overlapping that of the SCA 14 locus. Different PRKCG mutations were found in another family with SCA and in a sporadic case from the United States. Axial myoclonus was not observed in any of these US families.
Objectives: To determine whether a mutation in the PRKCG; gene is responsible for SCA14 and to investigate the prevalence of PRKCG mutations in Japanese patients with autosomal dominant SCA.
Patients and Methods: Direct nucleotide sequencing analysis of the 18 coding exons of the PRKCG gene was performed in the 19 members of the original Japanese family with SCA14 and in 24 Japanese probands with SCA. After identifying a PRKCG mutation, DNA samples from 72 patients with multiple system atrophy and 50 healthy individuals were examined for the mutation as controls.
Results: Sequence analysis revealed a novel missense mutation, Gln127Arg, in all affected members of the family with SCA14. This mutation was not found in 122 control individuals. No mutations in the PRKCG gene were detected in the group of 24 probands with SCA of unknown type.
Conclusions: These findings document that SCA14 is caused by mutations in the PRKCG gene. The observation that all 4 PRKCG mutations identified in patients with SCA to date are located in exon 4 suggests a critical role for this region of the gene in cerebellar function. Mutations in the same region of the gene can result in myoclonus in some families but not in others. - GNE mutations causing distal myopathy with rimmed vacuoles with inflammation
Yabe, I, T Higashi, S Kikuchi, H Sasaki, T Fukazawa, K Yoshida, K Tashiro
NEUROLOGY, 61, 3, 384, 386, LIPPINCOTT WILLIAMS & WILKINS, 2003年08月, [査読有り]
英語, 研究論文(学術雑誌), The authors describe a family in which two individuals have clinical distal myopathy with rimmed vacuoles (DMRV). While the clinical and most of the pathologic features in these patients were compatible with a diagnosis of DMRV, the presence of inflammatory changes in the connective tissue between muscle fibers was not. Gene analysis revealed a compound heterozygous mutation in these individuals, characterized by V572L and I472T. - Caveolin-3 gene mutation in Japanese with rippling muscle disease
Yabe, I, A Kawashima, S Kikuchi, T Higashi, T Fukazawa, T Hamada, H Sasaki, K Tashiro
ACTA NEUROLOGICA SCANDINAVICA, 108, 1, 47, 51, BLACKWELL MUNKSGAARD, 2003年07月, [査読有り]
英語, 研究論文(学術雑誌), Objectives - Rippling muscle disease (RMD) is a rare myopathy characterized by percussion-induced rapid muscle contractions, muscle mounding, and rippling. Recently a caveolin-3 gene (CAV3) mutation was identified in patients with autosomal dominant RMD. The objective of this study was to determine whether a similar mutation was present in two Japanese families with this condition. Patients and methods - Clinical examination, mutational analysis, and muscle immunohistochemistry were carried out in six patients from two Japanese RMD pedigrees. Results - Apart from the atrophy of the intrinsic muscles in their hands and a slight muscle weakness in their fingers, the clinical features of our patients were compatible with RMD. Our investigation revealed a CAV3 missense mutation, i.e. Arg26Gln in both families. Immunohistochemistry performed on a muscle biopsy specimen showed reduced caveolin-3 surface expression. Conclusions - Japanese RMD also appears to result from a CAV3 mutation. - Multiphasic demyelinating disorder with acute transverse myelitis in Japanese
T Fukazawa, S Kikuchi, M Niino, Yabe, I, T Hamada, K Tashiro
JOURNAL OF NEUROLOGY, 250, 5, 624, 626, DR DIETRICH STEINKOPFF VERLAG, 2003年05月, [査読有り]
英語 - Positional vertigo and macroscopic downbeat positioning nystagmus in spinocerebellar ataxia type 6 (SCA6)
Yabe, I, H Sasaki, N Takeichi, A Takei, T Hamada, K Fukushima, K Tashiro
JOURNAL OF NEUROLOGY, 250, 4, 440, 443, DR DIETRICH STEINKOPFF VERLAG, 2003年04月, [査読有り]
英語, 研究論文(学術雑誌), To investigate the frequency of positioning nystagmus in degenerative ataxic disorders, we examined downbeat positioning nystagmus (DPN) in 25 patients with spinocerebellar ataxia type 6 (SCA6) and 58 patients with other types of degenerative ataxia. DPN was observed in 21 of the 25 patients with SCA6 (84%) versus only 3 of the 58 patients (5.2%) with other types of degenerative ataxia, including multiple system atrophy, SCA1, SCA2, SCA3/Machado-Joseph disease, and non-SCA6 late-onset pure cerebellar ataxia. Our findings indicated that DPN is a distinct part of the clinical presentation of SCA6, showing that vestibular cerebellum is more affected in SCA6 than other types of degenerative ataxia. - Genetic polymorphisms of osteopontin in association with multiple sclerosis in Japanese patients
M Niino, S Kikuchi, T Fukazawa, Yabe, I, K Tashiro
JOURNAL OF NEUROIMMUNOLOGY, 136, 1-2, 125, 129, ELSEVIER SCIENCE BV, 2003年03月, [査読有り]
英語, 研究論文(学術雑誌), Osteopontin (OPN) exhibits pleiotropic functions and abundant transcripts for OPN are present in brains of patients with multiple sclerosis (MS). The aim of this study was to investigate the role of OPN genes in the pathogenesis of MS. Polymorphisms at the 8090th, 9250th and 9583rd positions in OPN were detected by PCR-RFLP from DNAs of 116 MS Japanese patients and 124 healthy controls. The C/C genotype at the 8090th position in exon 6 was more prevalent in MS than in control (p < 0.0001), and C allele was more prevalent in MS than in control (p < 0.0001, OR = 2.57, 95% CI = 1.65-4.00). For the 9583rd position polymorphism in exon 7, patients with G/G genotype (age; 32.1 +/- 12.5 years, mean +/- S.D.) showed a later disease onset than G/A (age; 25.9 +/- 7.8 years,p = 0.01) and A/A (age; 25.2 +/- 8.9 years, p = 0.01) genotypes. There were no significant correlations between OPN gene polymorphisms and disease progression. Our results suggest that the 8090th polymorphism might be associated with susceptibility to MS, while the 9583rd polymorphism might be associated with age of onset of MS. (C) 2003 Elsevier Science B.V. All rights reserved. - HILA-related subpopulations of MS in Japanese with and without oligoclonal IgG bands
S Kikuchi, T Fukazawa, M Niino, Yabe, I, R Miyagishi, T Hamada, SA Hashimoto, K Tashiro
NEUROLOGY, 60, 4, 647, 651, LIPPINCOTT WILLIAMS & WILKINS, 2003年02月, [査読有り]
英語, 研究論文(学術雑誌), Background: Oligoclonal IgG bands (OCB) are present in most patients with MS in Western countries; however, in Japanese MS patients, the OCB-positive rate is not as high. A relationship between immunogenetic backgrounds, namely, human leukocyte antigen (HLA) DR2 and DR4 positivity, and OCB production in MS patients from Hokkaido, the northernmost island of Japan, has been previously suggested by the authors. Objectives: To investigate the role of OCB in Japanese MS and to verify the interaction between immunogenetic backgrounds and OCB positivity. Methods: OCB, DR2(15), and DR4 positivity were studied in 45 patients with newly diagnosed MS. In addition to confirming the authors' previous findings, the clinical and demographic features, MRI findings, OCB positivity, and DRB1*15 and DRB1*04 polymorphisms of an expanded data set of 99 MS patients were investigated by using multivariate analysis. Patients with opticospinal MS (OS-MS) were excluded from this study. Results: A relatively low OCB-positive rate (53.3%), HLA-DR15 association with OCB-positive MS (p = 0.0044), and DR4 association with OCB-negative MS (p = 0.0410) were confirmed. DR15 was not associated with OCB-negative MS. Demographic features, disease course, and disability were similar in the OCB-negative and OCB-positive group, whereas there was a preponderance of women in the OCB-positive group. An independent negative association of DRB1*0405 (p = 0.0021, adjusted odds ratio = 0.21) with OCB positivity was found. Conclusions: MS is heterogeneous in its association with HLA alleles, and based on the immunogenetic differences, the MS patients in this population include at least two HLA-related subpopulations with and without OCB. - Effect of proteasome inhibitor on cultured mesencephalic dopaminergic neurons
S Kikuchi, K Shinpo, S Tsuji, M Takeuchi, S Yamagishi, Z Makita, M Niino, Yabe, I, K Tashiro
BRAIN RESEARCH, 964, 2, 228, 236, ELSEVIER SCIENCE BV, 2003年02月, [査読有り]
英語, 研究論文(学術雑誌), Proteasomal dysfunction has been implicated in the pathogenesis of Parkinson's disease (PD). We examined the effect of a selective proteasomal inhibitor, epoxomicin, on primary cultured mesencephalic neurons. Exposing rat cultured mesencephalic neurons to epoxomicin for 24 h resulted in neurotoxicity in a dose-dependent manner. Epoxomicin caused mitochondrial dysfunction, reduction in reduced glutathione (GSH), and increased generation of free radicals. Neuronal damage was significantly blocked by antioxidative/GSH-augmenting agents. Epoxomicin also increased the expression of Bax and decreased that of Bcl-2, which may cause mitochondrial dysfunction and release of free radicals. Dopaminergic neurons were preferentially resistant to the toxicity of epoxomicin. Inhibiting the synthesis of tetrahydrobiopterin (BH4), which has been reported to have antioxidative function, increased the susceptibility of dopaminergic neurons, whereas increasing BH4 levels protected non-dopaminergic neurons. These findings suggest that BH4 is at least in part a contributing factor to grand the resistance to dopaminergic neurons against epoxomicin neurotoxicity. Our results suggest that proteasome inhibition causes the neurotoxicity in mesencephalic neurons, but that is not sufficient to reproduce the selective damage to dopaminergic neurons, such as that seen in PD. (C) 2002 Elsevier Science B.V. All rights reserved. - Brefeldin A-induced neurotoxicity in cultured spinal cord neurons
S Kikuchi, K Shinpo, S Tsuji, Yabe, I, M Niino, K Tashiro
JOURNAL OF NEUROSCIENCE RESEARCH, 71, 4, 591, 599, WILEY-LISS, 2003年02月, [査読有り]
英語, 研究論文(学術雑誌), Brefeldin A (BFA) is a fungus metabolite that is known to cause the disassembly of the Golgi complex and apoptosis in exposed cells, both of which have been suggested as playing roles in the pathogenesis of neurodegenerative diseases, particularly amyotrophic lateral sclerosis (ALS). This study showed that BFA caused neurotoxicity and apoptotic nuclear changes in cultured spinal neurons of rat spinal cord in a dose- and time-dependent manner. The spinal motor neurons were more vulnerable to this neurotoxicity. The cultured spinal neurons showed irreversible disassembly of the Golgi apparatus as early as 1 hr after exposure to BFA. BFA induced the expression and activation of caspase-12 beginning 8 hr after exposure. The level of the cleaved form of caspase-3 had increased 12 hr after the addition of BFA. Free radical generation and loss of mitochondrial membrane potential were observed in the later stages of neurotoxicity caused by BFA. Collectively, our data suggests that BFA is an excellent agent for reproducing the pathophysiological features of ALS. This in vitro model may be useful in attempts to study the mechanisms of this neurodegenerative disease and to examine therapeutic potentials. (C) 2002 Wiley-Liss, Inc. - Spinocerebellar ataxia type 14 is caused by a mutation in protein kinase C gamma
Yabe, I, H Sasaki, DH Chen, WH Raskind, TD Bird, Yamashita, I, S Tsuji, K Tashiro
ANNALS OF NEUROLOGY, 54, S21, S21, WILEY-LISS, 2003年, [査読有り]
英語 - Polymorphisms of apolipoprotein E and Japanese patients with multiple sclerosis
M Niino, S Kikuchi, T Fukazawa, Yabe, I, K Tashiro
MULTIPLE SCLEROSIS, 9, 4, 382, 386, ARNOLD, HODDER HEADLINE PLC, 2003年, [査読有り]
英語, 研究論文(学術雑誌), The relation between apolipoprotein ( APOE) gene polymorphisms and disease progression of multiple sclerosis ( MS) is controversial. The present study was designed to investigate the relation between APOE gene polymorphisms and Japanese patients with MS. We analysed the frequencies of APOE gene polymorphisms in 135 MS patients and 134 healthy controls, using PC R-RFLP. The results showed no significant differences in the distribution of APOE gene polymorphisms between MS patients and controls. With regard to disease progression, there was no association between APOE gene polymorphisms and epsilon4 allele positivity and disease progression index (EDSS/ years). Furthermore, in patients with more than 10 years of disease onset, there were no significant differences between the frequencies of epsilon4 allele and patients with EDSS of more than 6. Although the low rate of epsilon4 allele in Japan should be taken into consideration, our results showed no relation between APOE gene polymorphisms and Japanese patients with MS. - The hereditary spinocerebellar ataxias in Japan
H Sasaki, Yabe, I, K Tashiro
CYTOGENETIC AND GENOME RESEARCH, 100, 1-4, 198, 205, KARGER, 2003年, [査読有り]
英語, 研究論文(学術雑誌), In Japan, multiple system atrophy (MSA) accounts for 40 % of all spinocerebellar ataxias (SCAs) and hereditary disorders account for 30%. Among the latter, autosomal dominant disorders are common and recessive ataxias are rare. Although the frequency of SCA genotypes differs between geographic regions throughout Japan, SCA6, SCA3/MJD, and DRPLA are the three major disorders, while SCA7, SCA8, SCA10, SCA12, and SCA17 are infrequent or almost undetected. SCA1 predominantly occurs in the northern part of Japan. Overall, 20-40% of dominant SCAs are due to unknown mutations. From this cluster, pure cerebellar ataxias linked with the SCA4, SCA 14, and SCA 16 locus have been isolated. Among the recessive SCAs, patients with AVED and EAOH have been detected. However, FRDA associated with GAA repeat expansion in the frataxin gene has not been reported so far. Copyright (C) 2002 S.Karger AG, Basel. - Spinocerebellar ataxia type 14
矢部 一郎, 佐々木秀直
神経内科, 60, 493, 496, 2003年, [査読有り]
日本語 - 多発性硬化症の疾患感受性遺伝子
深澤俊行, 菊地誠志, 新野正明, 矢部一郎, 宮岸隆司, 深浦彦彰, 濱田毅
日本臨床, 61, 1311, 1316, 2003年, [査読有り]
日本語 - Spinocerebellar ataxia type 6 (SCA6)の臨床像についての再考
矢部 一郎, 佐々木秀直, 田代邦雄
脳神経, 55, 299, 306, 2003年, [査読有り]
日本語 - 純粋型遺伝性痙性対麻痺-非SPG4について-
矢部 一郎
神経内科, 58, 244, 249, 2003年, [査読有り]
日本語 - An examination of the association between β2 adrenergic receptor polymorphisms and meltiple sclerosis.
Niino, M, Kikuchi, S, Miyagishi, R, Fukazawa, T, Yabe, I, Tashiro, K
Mult Scler, 8, 6, 475, 478, ARNOLD, HODDER HEADLINE PLC, 2002年12月, [査読有り]
英語, 研究論文(学術雑誌), In multiple sclerosis (MS), beta-adrenergic receptor densities on peripheral blood mononuclear cells are enhanced, while the astrocytes present in plaques lack beta(2) adrenergic receptor (beta(2)AR) expression. This differentially altered expression suggests that beta(2)ARs may influence the pathogenesis of MS. In the present study, we investigated the association of polymorphisms of the beta(2)AR gene with the occurrence of MS. Our results showed no significant differences in the distribution of the polymorphisms between MS patients overall and control subjects. Furthermore, no association was observed between the presence of beta(2)AR gene polymorphisms and clinical characteristics, such as age at disease onset and disease severity. While a trend towards an increase of the Gly allele frequency in codon 16 was observed in the secondary-progressive MS, this result was not significantly different from that observed in relapsing-remitting MS patients or control subjects. Together, our findings suggest that the presence Of beta(2)AR gene polymorphisms may be inconclusive in the susceptibility to MS or in the clinical characteristics of Japanese patients with MS and, therefore, need further studies. - An assessment of the association between IL-2 gene polymorphisms and Japanese patients with multiple sclerosis
S Kikuchi, M Niino, T Fukazawa, Yabe, I, K Tashiro
JOURNAL OF THE NEUROLOGICAL SCIENCES, 205, 1, 47, 50, ELSEVIER SCIENCE BV, 2002年12月, [査読有り]
英語, 研究論文(学術雑誌), Interleukin-2 (IL-2) is a cytokine intimately involved with both the function and regulation of the immune system. Genetic analysis of experimental autoimmune encephalomyelitis (EAE) provides strong evidence supporting the candidacy of IL-2 as a susceptibility gene. We investigated the association of two single nucleotide polymorphisms (SNPs) at position -384 in the promoter region and +114 in the first exon of the IL-2 gene through a case-control study involving 113 Japanese patients with multiple sclerosis (MS) and 118 healthy controls. Our results showed no significant differences in the distribution of the two polymorphisms between MS patients and controls. Furthermore, no association was observed between IL-2 gene polymorphisms and clinical characteristics, such as clinical course and age at disease onset. Together, our findings suggest that IL-2 gene polymorphisms do not influence the susceptibility to MS or the clinical characteristics of MS in Japanese patients. (C) 2002 Elsevier Science B.V. All rights reserved. - Familial syringomyelia: the first Japanese case and review of the literature
Yabe, I, S Kikuchi, K Tashiro
CLINICAL NEUROLOGY AND NEUROSURGERY, 105, 1, 69, 71, ELSEVIER SCIENCE BV, 2002年12月, [査読有り]
英語, We reported on syringomyelia in a mother and her son. The mother was 74-year-old, who developed gait difficulty at the age of 54. The son, 47-year-old, developed the same symptoms at the age of 35. In the both cases, MRI revealed syringomyelia with Chiari malformation. Twenty-one families with syringomyelia have been reported. The existence of these families indicates that genetic factors may play in role to the pathogenesis of this disorder. (C) 2002 Elsevier Science B.V. All rights reserved. - Spastin gene mutation in Japanese with hereditary spastic paraplegia
I. Yabe, H. Sasaki, K. Tashiro, T. Matsuura, T. Takegami, T. Satoh
JOURNAL OF MEDICAL GENETICS, 39, 8, e46, e46, B M J PUBLISHING GROUP, 2002年08月, [査読有り]
英語, 研究論文(学術雑誌) - Effect of geranylgeranylaceton on cellular damage induced by proteasome inhibition in cultured spinal neurons
S Kikuchi, K Shinpo, M Takeuchi, S Tsuji, Yabe, I, M Niino, K Tashiro
JOURNAL OF NEUROSCIENCE RESEARCH, 69, 3, 373, 381, WILEY-LISS, 2002年08月, [査読有り]
英語, 研究論文(学術雑誌), We investigated the effect of two proteasome inhibitors, lactacystin and epoxomicin, on cultured spinal cord neurons. The incubation of spinal neurons with proteasome inhibitors for 24 hr induced neurotoxicity in a dose-dependent manner. We found motor neurons to be more vulnerable to proteasome-induced neurotoxicity than nonmotor neurons. The staining of cell bodies in treated motor neurons was markedly disrupted and showed characteristic granular patterns. Proteasome-induced neurotoxicity is accompanied by apoptotic nuclear changes, posttranslational modification of the cellular proteins, generation of intracellular free radicals, reduction in the amount of reduced glutathione, and mitochondrial dysfunction. Neurotoxicity was reduced by the administration of low concentrations (1-100 nM) of geranylgeranylacetone (GGA), which is widely used as an antiulcer drug, although higher concentrations of this drug produced neurotoxicity in spinal cord neurons. GGA was found to induce the expression of heat shock protein 70 as well as thioredoxin, which may partly contribute to the protective effect of GGA. These data suggest that the inhibition of proteasome may play a role in the mechanism of neurodegenerative diseases of the spinal cord, such as amyotrophic lateral sclerosis, and that the use of GGA may be effective in the treatment of these conditions. (C) 2002 Wiley-Liss, Inc. - Estrogen receptor gene polymorphism and multiple sclerosis in Japanese patients: interaction with HLA-DRB1*1501 and disease modulation
S Kikuchi, T Fukazawa, M Niino, Yabe, I, R Miyagishi, T Hamada, K Tashiro
JOURNAL OF NEUROIMMUNOLOGY, 128, 1-2, 77, 81, ELSEVIER SCIENCE BV, 2002年07月, [査読有り]
英語, 研究論文(学術雑誌), We investigated PvuII and YbA polymorphism in the estrogen receptor gene (ERG) and HLA-DRB1 * 1501 positivity in 116 conventional multiple sclerosis (MS) patients and 101 healthy controls in a Japanese population. Logistic analysis revealed independent associations of [P] allele in the profiles for PvuII (p=0.0005, adjusted odds ratio (aOR)=3.17) and DRB1 * 1501 (p=0.0089, aOR=2.61) with conventional MS. Synergistic elevated risk of MS due to interaction between the [P] allele and HLA-DRB1 * 1501 allele was found among female patients (odds ratio=16.0; 95% CI=3.99-63.8, p<0.0001). The [P] allele-positive patients with disease duration of more than 5 years had a significantly higher progression index (PI) of disability (p=0.0230) and a worse ranked MS severity score (p=0.0152) than their non-[P] counterparts. (C) 2002 Elsevier Science B.V. All rights reserved. - No association of vitamin D-binding protein gene polymorphisms in Japanese patients with MS
M Niino, S Kikuchi, T Fukazawa, Yabe, I, K Tashiro
JOURNAL OF NEUROIMMUNOLOGY, 127, 1-2, 177, 179, ELSEVIER SCIENCE BV, 2002年06月, [査読有り]
英語, 研究論文(学術雑誌), Vitamin D-binding protein (DBP) is known to function as an immunomodulatory factor, as well as the main carrier of vitamin D. We analyzed the frequencies of two polymorphisms (codon 416 and codon 420) in the DBP gene through a case-control study involving 107 Japanese patients with multiple sclerosis (MS) and 109 healthy controls. None of these polymorphisms showed any association with the occurrence of MS. Furthermore, no association was observed between the DBP polymorphisms and the age at disease onset. These results suggest that DBP does not contribute to the development of MS in Japanese. (C) 2002 Elsevier Science B.V. All rights reserved. - Late onset ataxia phenotype in dentatorubro-pallidoluysian atrophy (DRPLA)
Yabe, I, H Sasaki, S Kikuchi, M Nonaka, F Moriwaka, K Tashiro
JOURNAL OF NEUROLOGY, 249, 4, 432, 436, DR DIETRICH STEINKOPFF VERLAG, 2002年04月, [査読有り]
英語, 研究論文(学術雑誌), We clinically and genetically studied three patients in a family with dentatorubro-pallidoluysian atrophy (DRPLA). The proband patient had 58/24 CAG repeat alleles of the DRPLA gene (normal less than or equal to 34 repeats). Cerebellar ataxia first developed in the 6-71(th) decades and was the predominant feature for more than 10 years in all three, after which two of them manifested dementia and choreiform movements in the advanced stage. Atrophy of the cerebellum and brain stem an CT or MRI had suggested dominant spinocerebellar ataxia as a diagnosis in their ataxia-predominant stage, with a diagnosis of DRPLA being impossible based on the clinical findings alone. Our experience implies that DRPLA must be taken into account in the differential diagnosis of late onset ataxic disorders, since it can easily be overlooked. - Beneficial effects of tandospirone on ataxia of a patient with Machado-Joseph disease
A Takei, S Honma, A Kawashima, Yabe, I, T Fukazawa, K Hamada, T Hamada, K Tashiro
PSYCHIATRY AND CLINICAL NEUROSCIENCES, 56, 2, 181, 185, BLACKWELL PUBLISHING ASIA, 2002年04月, [査読有り]
英語, 研究論文(学術雑誌), Tandospirone citrate (tandospirone) is an anti-anxiety drug that acts by combining with serotonin receptor (5-hydroxytryptamine-1 A [5-HT1A]). Recently, there have been a few reports of its potential role in the treatment of cerebellar ataxia. We report the first case of a patient with Machado-Joseph disease in which we successfully treated cerebellar ataxia. In addition, his leg pain, insomnia, anorexia, and depression, which are thought to be related to 5-HT1A receptors, were also remarkably alleviated by treatment with tandospirone. - An examination of the Apo-I/Fas promoter Mva I polymorphism in Japanese patients with multiple sclerosis
Masaaki Niino, Seiji Kikuchi, Toshiyuki Fukazawa, Ryuji Miyagishi, Ichiro Yabe, Kunio Tashiro
BMC NEUROLOGY, 2, 1, 5, BIOMED CENTRAL LTD, 2002年, [査読有り]
英語, 研究論文(学術雑誌), Background: The Apo-I/Fas (CD95) molecule is an apoptosis-signaling cell surface receptor belonging to the tumor necrosis factor (TNF) receptor family. Both Fas and Fas ligand (FasL) are expressed in activated mature T cells, and prolonged cell activation induces susceptibility to Fas-mediated apoptosis. The Apo-I/Fas gene is located in a chromosomal region that shows linkage in multiple sclerosis (MS) genome screens, and studies indicate that there is aberrant expression of the Apo-I/Fas molecule in MS.
Methods: Mva I polymorphism on the Apo-I/Fas promoter gene was detected by PCR-RFLP from the DNA of 114 Japanese patients with conventional MS and 121 healthy controls. We investigated the association of the Mva I polymorphism in Japanese MS patients using a case-control association study design.
Results: We found no evidence that the polymorphism contributes to susceptibility to MS. Furthermore, there was no association between Apo-I/ Fas gene polymorphisms and clinical course (relapsing-remitting course or secondary-progressive course). No significant association was observed between Apo-I/Fas gene polymorphisms and the age at disease onset.
Conclusions: Overall, our findings suggest that Apo-I/Fas promoter gene polymorphisms are not conclusively related to susceptibility to MS or the clinical characteristics of Japanese patients with MS. - ミオキミアを伴わない発作性小脳失調症
矢部 一郎, 佐々木秀直
神経症候群Ⅵ, 37, pt 6, 322, 325, 2002年, [査読有り]
日本語 - ミオキミアを伴う発作性小脳失調症
佐々木秀直, 矢部 一郎
神経症候群Ⅵ, 37, pt 6, 318, 321, 2002年, [査読有り]
日本語 - Heat shock protein 70 gene polymorphism in Japanese patients with multiple sclerosis
M Niino, S Kikuchi, T Fukazawa, Yabe, I, H Sasaki, K Tashiro
TISSUE ANTIGENS, 58, 2, 93, 96, MUNKSGAARD INT PUBL LTD, 2001年08月, [査読有り]
英語, 研究論文(学術雑誌), Despite the strength of the association of multiple sclerosis (MS) and human leukocyte antigen (BLA)-DR2, other genetic elements could have a role in the pathophysiology of MS. We investigated possible associations with polymorphic susceptibility genes located within the BLA complex, i.e., heat-shock protein (HSP)70-1, HSP70-2, and HSP70-hom in Japanese patients with MS. Furthermore, we analyzed the influence of HSP70 gene polymorphisms on the severity of the disease, clinical course, magnetic resonance imaging findings, and oligoclonal bands in the cerebrospinal fluid, and ELA in MS patients. The results of the present study indicated that there were no significant differences in the distribution of all HSP70 genotypes and allele frequencies between Japanese MS patients and controls. In MS patients, there were no associations between HSP70 gene polymorphisms and the clinical data. Moreover, there were no significant differences in HSP70 genotype or allele frequencies between MS patients positive for HLA-DRB1*1501 alleles and matched controls. Our data indicate that HSP70 gene polymorphisms are not relevant in the susceptibility to or the severity of Japanese MS patients. - Genetic polymorphisms of IL-1 beta and IL-1 receptor antagonist in association with multiple sclerosis in Japanese patients
M Niino, S Kikuchi, T Fukazawa, Yabe, I, H Sasaki, K Tashiro
JOURNAL OF NEUROIMMUNOLOGY, 118, 2, 295, 299, ELSEVIER SCIENCE BV, 2001年08月, [査読有り]
英語, 研究論文(学術雑誌), In the present study, we have investigated the association of specific polymorphisms of the interleukin (IL)-1 beta and IL-1 receptor antagonist (ra) gene with both the susceptibility to and the clinical characteristics of multiple sclerosis (MS) in Japanese patients. We collected and analyzed DNA from 98 MS patients and 104 healthy controls for distribution of IL-1 beta or IL-1ra polymorphisms. Our results show no significant differences in the distribution of the polymorphisms between MS patients and controls. Furthermore, no association was observed between IL-1 beta or IL-1ra polymorphisms and clinical characteristics, such as age at disease onset, clinical course and severity. Together, our findings suggest that IL-1 beta or IL-1ra gene polymorphisms may not be relevant in the susceptibility to MS or the clinical characteristics of Japanese patients with MS. (C) 2001 Elsevier Science B.V. All rights reserved. - Clinical trial of acetazolamide in SCA6, with assessment using the Ataxia Rating Scale and body stabilometry
Yabe, I, H Sasaki, Yamashita, I, A Takei, K Tashiro
ACTA NEUROLOGICA SCANDINAVICA, 104, 1, 44, 47, MUNKSGAARD INT PUBL LTD, 2001年07月, [査読有り]
英語, 研究論文(学術雑誌), Objective - To investigate the effect of acetazolamide on spinocerebellar ataxia type 6 (SCA6). Methods - Acetazolamide (250-500 mg/day) was administered orally for 88 weeks to 6 patients with SCA6, and its effect was quantitatively monitored using the Ataxia Rating Scale (ARS) and body sway analysis by stabilometry. Results - During administration of acetazolamide, the ARS score and the amplitude of body sway were significantly reduced compared with before administration. However, the response became weaker after 1 year of treatment. Conclusion - Although this was an open trial, the results suggested that acetazolamide can temporarily reduce the severity of symptoms during the progression of SCA6. - Predisposing chromosome for spinocerebellar ataxia type 6 (SCA6) in Japanese
Yabe, I, H Sasaki, Yamashita, I, K Tashiro, A Takei, Y Suzuki, H Kida, Y Takiyama, M Nishizawa, Y Hokezu, K Nagamatsu, T Oda, A Ohnishi, Inoue, I, A Hata
JOURNAL OF MEDICAL GENETICS, 38, 5, 328, 333, B M J PUBLISHING GROUP, 2001年05月, [査読有り]
英語 - Twenty CAG repeats are sufficient to cause a SCA6 phenotype.
Komeichi, K, Sasaki, H, Yabe, I, Yamashita, I, Kikuchi, S, Tashiro, K
J Med Genet, 38, e38, e38, 2001年, [査読有り]
英語 - セレジストと脊髄小脳変性症
矢部 一郎, 田代邦雄
臨床成人病, 31, 1479, 1481, 2001年, [査読有り]
日本語 - 脊髄小脳変性症
矢部 一郎, 佐々木秀直, 田代邦雄
日本臨床統計集(2) 改訂第四版, 59, sup18, 475, 482, 2001年, [査読有り]
日本語 - Estrogen receptor gene polymorphism in Japanese patients with multiple sclerosis
M Niino, S Kikuchi, T Fukazawa, Yabe, I, K Tashiro
JOURNAL OF THE NEUROLOGICAL SCIENCES, 179, 1-2, 70, 75, ELSEVIER SCIENCE BV, 2000年10月, [査読有り]
英語, 研究論文(学術雑誌), Estrogen has been reported to have immunosuppressive functions, and to inhibit the progression of experimental autoimmune encephalomyelitis (EAE), an animal model of multiple sclerosis (MS). Since estrogen shows its biological effects via estrogen receptors (ER), we investigate the possible role of ER genes (ERG) in the pathogenesis of MS. PvuII and XbaI polymorphisms in ERG were detected by PCR-RFLP from the DNA of 79 conventional MS patients and 73 healthy controls. The [P] allele in the profiles in PvuII was significantly more prevalent in RIS patients than in the controls (P<0.0005). In the study of XbaI polymorphism the onset age of MS patients with the Xx genotype was earlier than that of the xx genotype group (mean age+/-S.D.; 22.60+/-8.04, and 27.49+/-9.14, respectively) (P<0.05) by ANOVA followed by Fisher's PLSD. Although the Xx genotype group tended to earlier onset age than the XX genotype group (29.60+/-11.10), this difference did not reach. On the basis of these results, PvuII polymorphism might be associated with susceptibility to MS, and XbaI polymorphism with onset age of MS. ERG polymorphism should be further studied in other populations to improve strategies for treatment of MS. (C) 2000 Published by Elsevier Science B.V. - Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles
M Niino, T Fukazawa, Yabe, I, S Kikuchi, H Sasaki, K Tashiro
JOURNAL OF THE NEUROLOGICAL SCIENCES, 177, 1, 65, 71, ELSEVIER SCIENCE BV, 2000年08月, [査読有り]
英語, 研究論文(学術雑誌), We have previously reported that the association between Bsm I polymorphism, one of the vitamin D receptor genes (VDRG) polymorphism, and multiple sclerosis (MS). In this report, we investigated the further possible role or relevance of VDRG in the pathogenesis of MS. Apa I polymorphism was detected by PCR-RFLP from the DNA of 77 conventional MS patients and 95 healthy controls. The study of the Bsm I and Apa I haplotypes was carried out by employing previously reported Bsm I data. The AA genotype and the [A] allele in the profiles were significantly more prevalent in MS patients than in controls (P = 0.0070 and P = 0.0321, respectively). In the [A] allele-positive MS patients, the positive rate of DPB1*0501 in HLA was significantly higher than that of the [A] allele-positive controls and that of the [A] allele-negative MS patients even when the corrected P value (P-corr) was applied (P-corr = 0.0220 and P-corr = 0.0077, respectively). The frequency of DRB1*1501 was higher in the [A] allele-positive patients than in the [A] allele-positive controls and the [A] allele-negative patients (P-uncorr = 0.0431 and P-uncorr = 0.0089, respectively), but the P values did not reach statistical significance after P corrections. The rate of Bsm I and Apa I haplotypes was much higher in bA/bA-positive MS patients than in the controls (P = 0.0003), and in the bA positive MS patients, the positive rate of DPB1*0501 was higher than that of the bA-positive: controls and that of the be-negative MS patients (P-corr = 0.0308 and P-corr = 0.0033, respectively). These results indicate that VDRG polymorphism may be associated with susceptibility to MS, and HLA alleles may correlate with risk for MS together with VDRG. (C) 2000 Elsevier Science B.V. All rights reserved. - A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter
Yamashita, I, H Sasaki, Yabe, I, T Fukazawa, S Nogoshi, K Komeichi, A Takada, K Shiraishi, Y Takiyama, M Nishizawa, J Kaneko, H Tanaka, S Tsuji, K Tashiro
ANNALS OF NEUROLOGY, 48, 2, 156, 163, LIPPINCOTT WILLIAMS & WILKINS, 2000年08月, [査読有り]
英語, 研究論文(学術雑誌), Dominantly inherited, late-onset pure cerebellar ataxia is a group of genetically heterogeneous neurodegenerative disorders. Approximately half of these disorders in the Japanese population are caused by moderate expansion of a CAG repeat in the coding region of the CACNA1A gene on chromosome 19p13 (SCA6). However, neither the loci nor the specific mutations for the remaining disorders have been determined. We performed systematic linkage analysis in a three-generation Japanese family with a locus or mutation that differed from those of known spinocerebellar ataxias. The family members with a late onset (greater than or equal to 39 years old) exhibited pure cerebellar ataxia, whereas those with an early onset (less than or equal to 27 years old) first showed intermittent axial myoclonus followed by ataxia. Other neurological signs were sparse, and neuroimaging studies revealed that atrophy was confined to the cerebellum. Multipoint analysis and haplotype reconstruction ultimately traced this novel spinocerebellar ataxia locus (SCA14) to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter (Zmax = 4.08, corrected for age-dependent penetrance). - Recessively inherited spastic paraplegia associated with ataxia, congenital cataracts, thin corpus callosum and axonal neuropathy
Yamashita, I, H Sasaki, Yabe, I, S Kikuchi, S Chin, T Fukazawa, H Okumura, K Tashiro
ACTA NEUROLOGICA SCANDINAVICA, 102, 1, 65, 69, MUNKSGAARD INT PUBL LTD, 2000年07月, [査読有り]
英語, 研究論文(学術雑誌), We investigated a consanguineous Japanese family with a complicated form of familial spastic paraplegia (FSP). Three siblings were affected, probably by autosomal recessive inheritance. All showed ataxia, subnormal mentality, congenital cataracts, and slight cerebellar atrophy on CT scans. Spastic paraplegia was predominant in 2 siblings, while ataxia was more marked in the other. Slight but definite atrophy of the corpus callosum and axonal neuropathy were demonstrated in 1 sibling who underwent detailed investigation. Review of similar cases reported in the literature indicates that this recessively inherited disorder probably represents a homogeneous group within the heterogeneous cluster of complicated FSP. - Incidence of idiopathic intracranial hypertension in Hokkaido, the northern-most island of Japan
Yabe, I, F Moriwaka, A Notoya, M Ohtaki, K Tashiro
JOURNAL OF NEUROLOGY, 247, 6, 474, 475, DR DIETRICH STEINKOPFF VERLAG, 2000年06月, [査読有り]
英語 - Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan
H Sasaki, Yabe, I, Yamashita, I, K Tashiro
JOURNAL OF THE NEUROLOGICAL SCIENCES, 175, 1, 45, 51, ELSEVIER SCIENCE BV, 2000年04月, [査読有り]
英語, 研究論文(学術雑誌), Approximately 44% of cases of spinocerebellar ataxia (SCA) in Hokkaido, the northernmost island of Japan, were estimated to be inherited. To determine the prevalence of triplet repeat expansion in hereditary SCA patients, we genotyped seven genetically defined dominant SCAs in 349 patients, including 266 patients from 77 families, 78 probands from unrelated families with hereditary late-onset SCA, and five patients in whom a family history of SCA was not demonstrated. The frequency of each disorder in a total of 155 unrelated families was 23.9% for Machado-Joseph disease (MJD), 29.0% for SCA6 9.7% for SCA1, 7.7% for SCA2, and 2.6% for dentatorubral-pallidoluysian atrophy. Abnormal expansion of triplet repeats for SCA7 and SCA8 was not detected. A total of 27.1% of the patients had still unknown SCA mutations. In addition, the GAA repeat in the frataxin gene was not abnormally expanded in 13 early-onset SCA patients with clinical features similar to those of Friedreich ataxia. Comparison of our results with those from other centers handling SCA showed that MJD is prevalent throughout Japan, but the frequencies of other dominant SCAs differ considerably even within Japan. (C) 2000 Elsevier Science B.V. All rights reserved. - Genomic HLA profiles of MS in Hokkaido, Japan: important role of DPB1"0501 allele
T Fukazawa, S Kikuchi, H Sasaki, Yabe, I, R Miyagishi, T Hamada, K Tashiro
JOURNAL OF NEUROLOGY, 247, 3, 175, 178, DR DIETRICH STEINKOPFF VERLAG, 2000年03月, [査読有り]
英語, 研究論文(学術雑誌), The polymorphism of the HLA class II genes was investigated in 97 patients with multiple sclerosis (MS) in Hokkaido, the northernmost main island of Japan. Of these, 80 patients were classified as having conventional MS and 17 as having opticospinal MS (OS-MS). Our findings confirmed a previous report that the DPB1*0501 allele is positively associated with OS-MS (P = 0.0043). The frequency of DPB1*0501 was also found to be higher in conventional MS patients than in controls (79% vs. 58%, P = 0.0084), although the differences were not statistically significant. Our results indicate that OS-MS is a DPB1*0501-associated subgroup of MS, and that DPB1*0501 is also correlated with risk of conventional MS in Japanese. - Dissociation of smooth pursuit and vestibulo-ocular reflex cancellation in SCA-6
N Takeichi, K Fukushima, H Sasaki, Yabe, I, K Tashiro, Y Inuyama
NEUROLOGY, 54, 4, 860, 866, LIPPINCOTT WILLIAMS & WILKINS, 2000年02月, [査読有り]
英語, 研究論文(学術雑誌), Objective: To study gaze in SCA-B patients during pursuit and passive whole-body rotation. Background: Smooth pursuit and vestibularly induced eye movements interact to maintain the accuracy of eye movements in space (i.e., gaze). Previous studies have implicated the cerebellum, particularly the floccular lobe and dorsal vermis, in the control of gaze velocity during pursuit and vestibule-ocular reflex (VOR) cancellation. SCA-6 has recently been identified genetically and characterized as pure cerebellar ataxia that affects the cerebellar cortex selectively. Methods: Using infrared oculography, eye movements of five SCA-6 patients and five age-matched normal control subjects were recorded during sinusoidal pursuit and passive whole-body rotation in the horizontal plane (amplitude, +/- 10 deg; frequency, 0.2 Hz). Eye and gaze gain (eye and gaze velocity/stimulus velocity) were calculated after deleting saccades. Results: Eye gain of all SCA-B patients during pursuit was significantly lower than those of the control subjects (mean +/- SD, 0.26 +/- 0.06 versus 0.91 +/- 0.07). In contrast, eye gain of the patients was not significantly different fr om that of the control subjects either during VOR cancellation, when the subjects tracked a target that moved with tale same amplitude and phase, like a chair (0.21 +/- 0.05 versus 0.12 +/- 0.07), or during visually enhanced VOR (x1), when the target remained stationary in space (0.85 +/- 0.06 versus 0.95 +/- 0.05). Moreover, there was no significant difference in mean VOR gain in total darkness between the two groups. Gaze gain of patients (0.26 +/- 0.06 versus 0.81 +/- 0.06) but not control subjects (0.91 +/- 0.07 versus 0.88 +/- 0.08), was significantly different during pursuit and VOR cancellation. Conclusion: SCA-6 patients show dissociation in the control of gaze tracking during smooth pursuit and VOR cancellation. - 北海道における遺伝性脊髄小脳変性症の特異性
矢部一郎, 佐々木秀直, 田代邦雄
神経内科, 53, 91, 98, 2000年, [査読有り]
日本語 - 多発性硬化症におけるエストロゲン受容体遺伝子多型についての検討
新野正明, 菊地誠志, 深澤俊行, 矢部一郎, 佐々木秀直, 田代邦雄
神経免疫学, 8, 34, 35, 2000年, [査読有り]
日本語 - 脊髄小脳変性症の電気生理学的検討
武井麻子, 矢部一郎, 深澤俊行, 濱田 毅, 佐々木秀直, 田代邦雄
神経内科, 52, 301, 308, 2000年, [査読有り]
日本語 - 脊髄小脳変性症の遺伝子診断-ポリグルタミン病を中心に-
矢部 一郎, 佐々木秀直, 田代邦雄
臨床成人病, 30, 291, 295, 2000年, [査読有り]
日本語 - CTLA-4 gene polymorphism may modulate disease in Japanese multiple sclerosis patients
T Fukazawa, T Yanagawa, S Kikuchi, Yabe, I, H Sasaki, T Hamada, K Miyasaka, K Gomi, K Tashiro
JOURNAL OF THE NEUROLOGICAL SCIENCES, 171, 1, 49, 55, ELSEVIER SCIENCE BV, 1999年12月, [査読有り]
英語, 研究論文(学術雑誌), Multiple sclerosis (MS) is widely believed to have a T-cell-mediated autoimmune etiology. The CTLA-4 gene is a strong candidate for involvement in autoimmune diseases because it plays an important role in the termination of T-cell activation. To examine the genetic association of the CTLA-4 gene locus with MS, we analyzed the CTLA-4 gene exon 1 A/G polymorphism in 74 Japanese MS patients and 93 controls. We also investigated the possible interactions of the CTLA-4 gene polymorphism with clinical course and severity, with MRI findings, with another genetic marker-HLA antigens, and with oligoclonal bands (OCB) in the cerebrospinal fluid (CSF). The CTLA-4 exon 1 polymorphism was similar between MS patients and controls. Conversely, clinical disability was significantly more severe in AA homozygous patients than in the other patients, and the allele frequency and the phenotype frequency of the A allele were significantly higher in patients with severe-grade MRI findings of cerebral white matter than in patients with mild-grade MRI findings. The allele frequency and the phenotype frequency of the A allele were significantly higher in patients with OCB than in patients without. This CTLA-4 polymorphism may modulate the prognosis of patients with MS and may be relevant to generation of OCB in the CSF. (C) 1999 Elsevier Science B.V. All rights reserved. - Vocal cord abductor paralysis in spinocerebellar ataxia type
T Shiojiri, T Tsunemi, T Matsunaga, H Sasaki, Yabe, I, K Tashiro, N Nishizawa, K Takamoto, T Yokota, H Mizusawa
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 67, 5, 695, 695, BRITISH MED JOURNAL PUBL GROUP, 1999年11月, [査読有り]
英語 - Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2
T Matsuura, H Sasaki, Yabe, I, K Hamada, T Hamada, M Shitara, K Tashiro
JOURNAL OF NEUROLOGY, 246, 9, 835, 839, DR DIETRICH STEINKOPFF VERLAG, 1999年09月, [査読有り]
英語, 研究論文(学術雑誌), Spinocerebellar ataxia type 2 (SCA2) is caused by expansion of unstable CAG repeats within the coding region of the novel gene, ataxin-2, on chromosome 12q24.1. We analyzed CAG repeat size of the SCA2 allele in two deceased patients (father and daughter) to investigate the repeat mosaicism in CNS regions. The CAG repeat size was examined using lymphoblastoid cell lines, frozen brain tissues, and paraffin-embedded tissues. In each patient the major repeat size of the expanded allele varied within the brain or spinal cord (father, 39-42; daughter, 39-47 repeats), and was smaller by three to eight repeats in the cerebellum than in other CNS regions. Our results are in agreement with the findings in other polyglutamine disorders showing somatic mosaicism. - Association of vitamin D receptor gene polymorphism with multiple sclerosis in Japanese
T Fukazawa, Yabe, I, S Kikuchi, H Sasaki, T Hamada, K Miyasaka, K Tashiro
JOURNAL OF THE NEUROLOGICAL SCIENCES, 166, 1, 47, 52, ELSEVIER SCIENCE BV, 1999年06月, [査読有り]
英語, 研究論文(学術雑誌), 1,25-Dihydroxyvitamin D3 (1,25(OH)(2)D-3), the biologically active form of vitamin D, exerts an immunosuppressive effect and can completely prevent experimental autoimmune encephalomyelitis (EAE). 1,25(OH)(2)D-3 exerts most of its actions only after it has bound to its specific nuclear receptors. To investigate the possible role of vitamin D receptor gene (VDRG) polymorphism in susceptibility to or disease-modulation of MS, we evaluated 77 Japanese patients with 'conventional' MS and 95 controls. A VDRG allelic polymorphism was assessed by Bsm1 endonuclease restriction after specific PCR amplification. Genotypic polymorphism was clearly defined as BE (absence of restriction site on both alleles), bb (presence of restriction site on both alleles), or Bb (heterozygous). We found overexpression of the b allele (92.9 vs. 84.2%; P=0.0138) and homozygote bb (85.7 vs. 71.6%; P=0.0263) in MS patients compared with controls. The results indicate for the first time an association of MS with VDRG polymorphism, which may be involved in pathogenesis of MS, or in the linkage disequilibrium of VDRG to another pathogenic gene loci. The role of VDR gene polymorphism should be further studied in other populations, and the distribution of other polymorphism, such as Apa I, Tag I, should be also analyzed to confirm another susceptibility gene for MS and to obtain more adequate strategies for treatment of MS. (C) 1999 Elsevier Science B.V. All rights reserved. - 日本における多発性硬化症(MS)の臨床的、免疫学的多様性:視神経—脊髄型MS、急性横断性脊髄症を呈するMSの特異性と通常型MSの多様性
深澤俊行, 菊地誠志, 新野正明, 矢部一郎, 柳川達生, 五味清英, 濱田 毅, 田代邦雄
Neuroimmunology, 7, 181, 187, 1999年, [査読有り]
日本語 - Spinocerebellar ataxia type6 (SCA6)におけるアセタゾラミドの治療効果
矢部一郎, 佐々木秀直, 山下 功, 武井麻子, 深澤俊行, 濱田 毅, 田代邦雄
臨床神経学, 39, 793, 799, 1999年, [査読有り], [筆頭著者]
日本語 - Spinocerebellar ataxia type6 (SCA6)の初期症状ならびに神経症候の推移に関する検討
矢部一郎, 佐々木秀直, 山下 功, 武井麻子, 深澤俊行, 濱田毅, 田代邦雄
臨床神経学, 38, 6, 489, 494, 1998年06月, [査読有り]
日本語, 研究論文(学術雑誌), Spinocerebellar ataxia type 6 (SCA6) is genetically defined as a group of SCA characterized by late-onset pure cerebellar ataxia clinically and by a small CAG repeat expansion in the gene encoding the α(1A)-voltage-dependent- Ca channel subunit (CACNL1A4) on chromosome 19p13.1 genetically. We analyzed the initial symptoms and the mode of progression in this disorder on 25 genetically verified patients. The initial symptoms were recurrent episodes of transient vertigo (72%) or unsteady gait (28%). Neurologically, they showed apparent gaze-evoked nystagmus (92%), transient positional nystagmus (83%), and periodic alternating nystagmus (4%), in addition to cerebellar ataxia. In addition to these episodic symptoms, all patients developed progressive cerebellar ataxia over years. These fluctuating symptoms at the initial stage of the illness were clearly different from those of other SCA, rather overlapping with those of episodic ataxia type 2 (EA2), an allelic disorder of SCA6. The clinical similarity indicates that there might be a common mechanism at least in part causing these two disorders. The mode of progression and their neurological features were also presented. - SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia
Yabe, I, H Sasaki, T Matsuura, A Takada, A Wakisaka, Y Suzuki, T Fukazawa, T Hamada, T Oda, A Ohnishi, K Tashiro
JOURNAL OF THE NEUROLOGICAL SCIENCES, 156, 1, 89, 95, ELSEVIER SCIENCE BV, 1998年03月, [査読有り]
英語, 研究論文(学術雑誌), Spinocerebellar ataxia type 6 (SCA6) is caused by small CAG repeat expansion in the gene encoding the alpha(1A)-voltage-dependent-calcium channel subunit (CACNL1A4) on chromosome 19p13, and is a subgroup of the late-onset pure cerebellar ataxia (ADCA III). To investigate the prevalence of SCAB in the Japanese, we analyzed this mutation in 23 families and 12 probands with ADCA m. The specificity and stability of the CAG repeat were examined in additional individuals and families with other miscellaneous dominant SCAs. The CAG expansion of SCA6 gene was exclusively observed in 12 of 23 families (52%) and 12 proband cases with ADCA III, but not in others. The CAG repeat was 21-33 in the disease-associated alleles (n = 56), and 4-18 in normal alleles (n = 1148). Expanded alleles were stable during transmission, and a significant inverse correlation for CAG repeat number with age at onset was noted. Our results indicate that SCA6 shares approximately half of the ADCA III in the Japanese, and that gene mutations causing the remaining, have yet to be identified. (C) 1998 Elsevier Science B.V. - SCA7
矢部 一郎, 佐々木秀直, 田代邦雄
神経内科, 49, 243, 248, 1998年, [査読有り]
日本語 - 遺伝性脊髄小脳変性症
矢部 一郎, 佐々木秀直, 田代邦雄
老年期痴呆, 12, 73, 85, 1998年, [査読有り]
日本語 - 特発性頭蓋内圧亢進症
矢部 一郎, 田代邦雄
神経内科, 48, 14, 19, 1998年, [査読有り]
日本語 - Syringomyelia as a cause of body hypertrophy
K Sudo, Y Owada, Yabe, I, S Kikuchi, K Tashiro
LANCET, 347, 9015, 1593, 1595, LANCET LTD, 1996年06月, [査読有り]
英語, 研究論文(学術雑誌), Background Among 26 patients with communicating syringomyelia who came to our out-patient clinic from April, 1989, to March, 1995, three (11.5%) had hypertrophy in limbs, hands, or feet. One had crossed hypertrophy. We considered the possibility that syringomyelia caused body hypertrophy.
Methods We searched MEDLINE for articles which mention body asymmetry or hypertrophy, and examined the findings in our own patients.
Findings The site of hypertrophy in our three patients coincided with the site of the neurological and magnetic resonance imaging findings. In addition, the horizontal and vertical location of the syrinx corresponded with the site of all four hypertrophic limbs. We located ten articles in which a diagnosis of syringomyelia was made, and five in which other diagnoses were made.
Interpretation From studying our patients as well as those previously reported, we speculate that some types of body hypertrophy are due to damage, accompanied by stimulation, of the sympathetic neurons in the ipsilateral lateral horn of the spinal cord, Although there are many causes of hypertrophy, we suggest that the possibility of syringomyelia be investigated in patients with body hypertrophy, especially in those with any accompanying neurological abnormality. - A case of benign intracranial hypertension with fluctuated symptoms and CSF pressure synchronized with menstrual cycle
I. Yabe, T. Yanagihara, T. Fukazawa, T. Hamada, K. Tashiro
Clinical Neurology, 32, 8, 874, 877, 1992年, [査読有り]
日本語, 研究論文(学術雑誌) - 日常生活における性分化の診かた
田島敏弘, 柴田有花, 山田崇弘, 矢部一郎
小児内科, [査読有り]
日本語 - 運動失調症の定量的評価法;正確な効果判定のために
矢部 一郎, 佐々木 秀直
神経治療学, [査読有り]
その他活動・業績
- もやもや病のエピゲノム病態修飾因子探索
伊東雅基, 内野晴登, 東海林菊太郎, 杉山拓, 川堀真人, 岩田育子, 矢部一郎, 寶金清博, 藤村幹, 月刊メディカル・サイエンス・ダイジェスト, 50, 6, 2024年 - 脊髄小脳失調症1型の自然歴調査研究
白井慎一, 林宏至, 岡田和史, 伊藤陽一, 佐々木秀直, 佐々木秀直, 矢部一郎, 日本神経学会学術大会プログラム・抄録集, 64th, 2023年 - 神経変性疾患領域の基盤的調査研究 成人発症の遺伝性神経・筋疾患の発症前診断に関する全国調査に関する研究
矢部一郎, 柴田有花, 松島理明, 松島理明, 加藤ももこ, 竹内恵, 張香理, 中村勝哉, 中村勝哉, 織田克利, 吉田邦広, 関島良樹, 戸田達史, 戸田達史, 神経変性疾患領域の基盤的調査研究 令和3年度 総括・分担研究報告書(Web), 2022年 - 非典型的な症状であるが,seronegative重症筋無力症(SNMG)と考えられた2例
石丸誠己, 布村菫, 穴田麻眞子, 大岩慧, 水島慶一, 佐藤翔紀, 工藤彰彦, 阿部恵, 江口克紀, 長井梓, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 矢口裕章, 矢部一郎, 臨床神経学(Web), 62, 4, 2022年 - Good症候群を背景に小脳及び脳幹に限局する病変を呈した進行性多巣性白質脳症(PML)の1例
布村菫, 石丸誠己, 穴田麻眞子, 水島慶一, 佐藤翔紀, 工藤彰彦, 阿部恵, 江口克紀, 長井梓, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 矢口裕章, 矢部一郎, 臨床神経学(Web), 62, 4, 2022年 - 北海道における多系統萎縮症レジストリ研究:HoRC-MSA2014-2021
松島理明, 佐久嶋研, 金谷泰宏, 西本尚樹, 澤田潤, 松岡健, 久原真, 上杉春雄, 南尚哉, 佐光一也, 武井麻子, 玉腰暁子, 佐藤典宏, 佐々木秀直, 矢部一郎, 臨床神経学(Web), 62, 4, 2022年 - 発語失行および劣位半球優位の脳萎縮と血流低下を認めた大脳皮質基底核変性症候群の1例
穴田麻眞子, 石丸誠己, 布村菫, 水島慶一, 工藤彰彦, 佐藤翔紀, 阿部恵, 江口克紀, 長井梓, 脇田雅大, 白井慎一, 松島理明, 矢口裕章, 矢部一郎, 大槻美佳, 臨床神経学(Web), 62, 4, 2022年 - 非HIV関連かつ免疫抑制剤を使用していない進行性多巣性白質脳症5例の臨床的検討
穴田麻眞子, 矢口裕章, 布村菫, 石丸誠己, 水島慶一, 工藤彰彦, 佐藤翔紀, 阿部恵, 江口克紀, 長井梓, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 南尚哉, 中道一生, 松野吉宏, 田中伸哉, 矢部一郎, 日本神経学会学術大会プログラム・抄録集, 63rd, 2022年 - 成人発症の遺伝性神経・筋疾患における発症前診断に関する全国調査-第2報-
柴田有花, 松島理明, 松島理明, 加藤ももこ, 竹内恵, 張香理, 中村勝哉, 中村勝哉, 織田克利, 吉田邦広, 関島良樹, 戸田達史, 戸田達史, 矢部一郎, 矢部一郎, 日本神経学会学術大会プログラム・抄録集, 63rd, 2022年 - サーベイランス結果に基づく北海道におけるsporadic Creutzfeldt-Jakob diseaseの疫学
佐藤翔紀, 岩田育子, 濱田晋輔, 白井慎一, 松島理明, 矢口裕章, 佐藤克也, 北本哲之, 森若文雄, 水澤英洋, 山田正仁, 矢部一郎, 日本神経学会学術大会プログラム・抄録集, 63rd, 2022年 - 免疫介在性小脳失調症における新規自己抗体の検討
工藤彰彦, 矢口裕章, 阿部恵, 江口克紀, 長井梓, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 水戸泰紀, 田島康敬, 渡部昌, 畠山鎮次, 米田誠, 田中惠子, 矢部一郎, 日本神経学会学術大会プログラム・抄録集, 63rd, 2022年 - 中枢神経悪性リンパ腫の検討
水島慶一, 白井慎一, 岩田育子, 松島理明, 矢口裕章, 清水亜衣, 矢部一郎, 日本神経学会学術大会プログラム・抄録集, 63rd, 2022年 - 非流暢/先文法型原発性進行性失語:脳血流・イオフルパンSPECTと症候・経過の関係
大槻美佳, 中川賀嗣, 輿水修一, 緒方昭彦, 新保和賢, 水戸泰紀, 田島康敬, 濱田晋輔, 浦茂久, 金藤公人, 保前英希, 岩田育子, 松島理明, 矢部一郎, 日本神経学会学術大会プログラム・抄録集, 63rd, 2022年 - パーキンソン病の治療に関する研究について〜診察室からみなさんへ〜
矢部一郎, HSK希望(全国パーキンソン病友の会北海道支部会報), 200, 2, 5, 2022年 - 御礼の言葉
矢部一郎, 薬害スモン多発と日本被害者運動50年, 183, 184, 2022年 - 成人発症の遺伝性神経・筋疾患における発症前診断の全国調査-治療法確立時代の体制構築に向けて-
柴田有花, 松島理明, 加藤ももこ, 張 香理, 中村勝哉, 織田克利, 吉田邦広, 関島良樹, 戸田達史, 矢部一郎(corresponding, 日本神経学会学術大会プログラム・抄録集, 62nd, 2022年 - AIDS治療中に脳梗塞で発症し,原因検索に苦慮した中枢神経限局性血管炎の1例
足澤萌奈美, 江口克紀, 阿部恵, 岩田育子, 松島理明, 橋本大吾, 杉山拓, 矢部一郎, Neuroinfection (Web), 26, 2, 2021年 - 神経変性疾患領域の基盤的調査研究 成人発症の遺伝性神経・筋疾患の発症前診断に関する全国調査に関する研究
矢部一郎, 柴田有花, 松島理明, 松島理明, 加藤ももこ, 竹内恵, 張香理, 中村勝哉, 中村勝哉, 織田克利, 関島良樹, 戸田達史, 戸田達史, 神経変性疾患領域の基盤的調査研究 令和2年度 総括・分担研究報告書(Web), 2021年 - B症状や末梢神経障害を契機に診断された,クリオグロブリン(CG)血管炎の1例
足澤萌奈美, 大岩慧, 瀬尾祥, 田中大貴, 工藤彰彦, 阿部恵, 江口克紀, 長井梓, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 原田晋平, 遠藤知之, 矢部一郎, 臨床神経学(Web), 61, 7, 2021年 - 高度難聴,視力低下,著明な脳石灰化を主症状としたミトコンドリア病(m.12264C>T)の1例
大岩慧, 瀬尾祥, 足澤萌奈美, 田中大貴, 工藤彰彦, 阿部恵, 江口克紀, 長井梓, 脇田雅大, 長沼亮滋, 白井慎一, 岩田育子, 松島理明, 矢部一郎, 西山一三, 後藤雄一, 臨床神経学(Web), 61, 7, 2021年 - 大脳皮質脳炎で再発した抗MOG抗体陽性脳炎の1例
田中大貴, 大岩慧, 瀬尾祥, 足澤萌奈美, 工藤彰彦, 阿部恵, 江口克紀, 長井梓, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 矢部一郎, 臨床神経学(Web), 61, 7, 2021年 - 感覚障害を合併し遠位優位の筋力低下を生じた重症筋無力症の1例
工藤彰彦, 大岩慧, 白井慎一, 岩田育子, 松島理明, 矢口裕章, 矢部一郎, 神経治療学(Web), 38, 6, 2021年 - 姿勢推定機械学習モデルを利用した正常圧水頭症患者の歩行ケイデンス定量評価
江口克紀, 白井慎一, 岩田育子, 松島理明, 矢口裕章, 矢部一郎, 神経治療学(Web), 38, 6, 2021年 - 舞踏病を初発症状とした続発性抗リン脂質抗体症候群の1例
藤井信太朗, 大嶌祐貴, 堀内一宏, 岩見昴亮, 野村太一, 長井梓, 江口克紀, 脇田雅大, 佐藤智香, 長沼亮滋, 白井慎一, 岩田育子, 松島理明, 加藤将, 矢部一郎, 臨床神経学(Web), 61, 1, 2021年 - 北海道におけるプリオン病サーベイランス状況について
岩田育子, 濱田晋輔, 白井慎一, 松島理明, 森若文雄, 矢部一郎, 佐々木秀直, 臨床神経学(Web), 61, 1, 2021年 - 非定型Logopenic型原発性進行性失語様の言語症状を呈した若年性Alzheimer病の1例
足澤萌奈美, 大岩慧, 瀬尾祥, 田中大貴, 工藤彰彦, 阿部恵, 江口克紀, 長井梓, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 大槻美佳, 矢部一郎, 臨床神経学(Web), 61, 1, 2021年 - 長大な脊髄病変を繰り返したBing-Neel症候群の1例
大岩慧, 瀬尾祥, 足澤萌奈美, 田中大貴, 工藤彰彦, 阿部恵, 江口克紀, 長井梓, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 矢部一郎, 大東寛幸, 新野正明, 臨床神経学(Web), 61, 1, 2021年 - 非流暢/失文法型原発性進行性失語(naPPA)の発症・症候・検査所見・経過:55名の検討
大槻美佳, 中川賀嗣, 輿水修一, 新保和賢, 緒方昭彦, 水戸泰紀, 田島康敬, 濱田晋輔, 浦茂久, 岩田育子, 松島理明, 矢部一郎, 日本神経学会学術大会プログラム・抄録集, 62nd, 2021年 - 非集積地における遺伝性トランスサイレチン型アミロイドーシスの検討
市之川萌奈美, 大岩慧, 瀬尾祥, 田中大貴, 工藤彰彦, 阿部恵, 江口克紀, 長井梓, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 矢部一郎, 日本神経学会学術大会プログラム・抄録集, 62nd, 2021年 - 神経・筋疾患患者を対象とした遺伝カウンセリング効果に関する後方視的検討
加藤ももこ, 柴田有花, 松島理明, 松島理明, 矢部一郎, 矢部一郎, 日本神経学会学術大会プログラム・抄録集, 62nd, 2021年 - 肥厚性硬膜炎13例の後方視的検討
工藤彰彦, 大岩慧, 瀬尾祥, 足澤萌奈美, 田中大貴, 阿部恵, 江口克紀, 長井梓, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 矢部一郎, 日本神経学会学術大会プログラム・抄録集, 62nd, 2021年 - 【令和元年度 北海道医学会市民公開シンポジウム報告】脳の老化とじょうずにつきあう-脳や神経の衰えからくる症状,パーキンソン病の最新治療,転倒予防するコツや認知症を支える社会について-
矢部一郎, 深澤俊行, 饗場郁子, 長田 乾, 北海道医学雑誌, 95, 1, 5, 14, 2020年05月, [査読有り], [筆頭著者]
北海道医学会, 日本語 - Emery-Dreifuss型筋ジストロフィー(EDMD)の1例
藤井信太朗, 岩見昴亮, 野村太一, 高橋俊樹, 長井梓, 江口克紀, 脇田雅大, 佐藤智香, 長沼亮滋, 白井慎一, 岩田育子, 松島理明, 矢部一郎, 藤田篤史, 西野一三, 臨床神経学(Web), 60, 1, 2020年 - 北海道における多系統萎縮症レジストリ研究:HoRC-MSA2014-2019
松島理明, 佐久嶋研, 矢部一郎, 金谷泰宏, 西本尚樹, 松岡健, 澤田潤, 上杉春雄, 上杉春雄, 佐光一也, 武井麻子, 玉腰暁子, 下濱俊, 佐藤典宏, 菊地誠志, 佐々木秀直, 佐々木秀直, 臨床神経学(Web), 60, 1, 2020年 - 高齢発症で家族歴がなく,診断に時間を要した家族性アミロイドポリニューロパチーの2例
野村太一, 大嶌祐貴, 芳野正修, 水島慶一, 江口克紀, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 矢部一郎, 佐々木秀直, 臨床神経学(Web), 60, 1, 2020年 - 脊髄性筋萎縮症3型成人例へのヌシネルセン投与経験
岩見昂亮, 芳野正修, 水島慶一, 大嶌祐貴, 江口克紀, 脇田雅大, 佐藤智香, 長沼亮滋, 白井慎一, 岩田育子, 松島理明, 相馬広幸, 矢部一郎, 佐々木秀直, 臨床神経学(Web), 60, 1, 2020年 - 成人発症の遺伝子神経・筋疾患の発症前診断について
矢部一郎, 第18回全国遺伝子医療部門連絡会議報告書, 18, 63, 70, 2020年 - パーキンソン病に対する深部脳刺激療法後の脳波β位相-広域γ振幅カップリングの変化に関する検討
江口克紀, 矢部一郎, 白井慎一, 山崎和義, 濱内祝嗣, 松島理明, 加納崇裕, 笹森徹, 関俊隆, 大槻美佳, 寳金清博, 佐々木秀直, 臨床神経生理学(Web), 48, 5, 2020年 - 複合免疫不全症の診断を契機に進行性多巣性白質脳症が判明した若年女性の1例
岩見昂亮, 松島理明, 長井梓, 白井慎一, 中久保祥, 岩田育子, 山田雅文, 矢部一郎, 神経治療学(Web), 37, 6, 2020年 - パーキンソン病に対する深部脳刺激療法後の脳波β位相-広域γ振幅カップリングの変化に関する検討
江口克紀, 矢部一郎, 白井慎一, 山崎和義, 濱内祝嗣, 松島理明, 加納崇裕, 笹森徹, 関俊隆, 大槻美佳, 寳金清博, 佐々木秀直, 臨床神経生理学(Web), 48, 5, 2020年 - 診断に苦慮した,高齢発症で家族歴の明らかではない遺伝性トランスサイレチン型アミロイドポリニューロパチーの2例
野村太一, 野村太一, 松島理明, 大嶌祐貴, 芳野正修, 水島慶一, 江口克紀, 脇田雅大, 白井慎一, 岩田育子, 甲谷太郎, 今本鉄平, 岡田宏美, 矢部一郎, 佐々木秀直, 末梢神経, 31, 2, 2020年 - 北海道における多系統萎縮症レジストリ研究:HoRC-MSA2014-2019
松島 理明, 佐久嶋 研, 矢部 一郎, 金谷 泰宏, 西本 尚樹, 松岡 健, 澤田 潤, 上杉 春雄, 佐光 一也, 武井 麻子, 玉腰 暁子, 下濱 俊, 佐藤 典宏, 菊池 誠志, 佐々木 秀直, 臨床神経学, 60, 1, 95, 95, 2020年01月, [査読有り]
(一社)日本神経学会, 日本語 - 【SCD・MSAの治療開発の現状】[第3部]脊髄小脳変性症・多系統萎縮症の治療
松島 理明, 矢部 一郎, 難病と在宅ケア, 25, 10, 15, 18, 2020年01月
(株)日本プランニングセンター, 日本語 - MRI構造画像と磁化率画像に基づくアルツハイマー病の診断指標
佐藤 良太, 工藤 與亮, 河田 康雄, 宇土 仁木, 松島 理明, 矢部 一郎, 山口 晃典, 尾藤 良孝, 越智 久晃, 白猪 亨, Dementia Japan, 33, 4, 553, 553, 2019年10月
(一社)日本認知症学会, 日本語 - 脳深部刺激療法術後3年の経過に関する14例の検討
白井 慎一, 矢部 一郎, 江口 克紀, 山崎 和義, 濱内 祝嗣, 松島 理明, 加納 崇裕, 笹森 徹, 平田 健司, 関 俊隆, 志賀 哲, 大槻 美佳, 北川 まゆみ, 寳金 清博, 佐々木 秀直, パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 13回, 83, 83, 2019年07月
Movement Disorder Society of Japan (MDSJ), 日本語 - タンデムマス検査が有用であった極長鎖アシルCoA脱水素酵素(VLCAD)欠損症の1例
水島 慶一, 白井 慎一, 江口 克紀, 脇田 雅大, 佐藤 智香, 岩田 育子, 松島 理明, 佐藤 和則, 相崎 潤子, 但馬 剛, 矢部 一郎, 佐々木 秀直, 臨床神経学, 59, 6, 393, 393, 2019年06月
(一社)日本神経学会, 日本語 - 失調症状を主としたX連鎖性Charcot-Marie-Tooth病1型(CMTX1)の1例
大嶌 祐貴, 水島 慶一, 芳野 正修, 江口 克紀, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎, 高嶋 博, 佐々木 秀直, 臨床神経学, 59, 6, 395, 395, 2019年06月
(一社)日本神経学会, 日本語 - LCIGの導入後にPEG/Jチューブにより十二指腸潰瘍を発症した1例
芳野 正修, 白井 慎一, 大嶌 祐貴, 水島 慶一, 江口 克紀, 脇田 雅大, 佐藤 智香, 長沼 亮滋, 上床 尚, 岩田 育子, 松島 理明, 矢部 一郎, 小野 尚子, 浦 茂久, 太田 勝久, 佐々木 秀直, 臨床神経学, 59, 6, 396, 396, 2019年06月
(一社)日本神経学会, 日本語 - タンデムマス検査が有用であった極長鎖アシルCoA脱水素酵素(VLCAD)欠損症の1例
水島 慶一, 白井 慎一, 江口 克紀, 脇田 雅大, 佐藤 智香, 岩田 育子, 松島 理明, 佐藤 和則, 相崎 潤子, 但馬 剛, 矢部 一郎, 佐々木 秀直, 臨床神経学, 59, 6, 393, 393, 2019年06月
(一社)日本神経学会, 日本語 - 失調症状を主としたX連鎖性Charcot-Marie-Tooth病1型(CMTX1)の1例
大嶌 祐貴, 水島 慶一, 芳野 正修, 江口 克紀, 脇田 雅大, 白井 慎一, 岩田 育子, 松島 理明, 矢部 一郎, 高嶋 博, 佐々木 秀直, 臨床神経学, 59, 6, 395, 395, 2019年06月
(一社)日本神経学会, 日本語 - 刺激装置の変更により脳深部刺療法による開眼失行が改善したパーキンソン病の1例
江口 克紀, 白井 慎一, 大嶌 祐貴, 水島 慶一, 芳野 正修, 脇田 雅大, 岩田 育子, 松島 理明, 山崎 和義, 濱内 祝嗣, 笹森 徹, 関 俊隆, 矢部 一郎, 寳金 清博, 佐々木 秀直, 臨床神経学, 59, 6, 395, 395, 2019年06月
(一社)日本神経学会, 日本語 - LCIGの導入後にPEG/Jチューブにより十二指腸潰瘍を発症した1例
芳野 正修, 白井 慎一, 大嶌 祐貴, 水島 慶一, 江口 克紀, 脇田 雅大, 佐藤 智香, 長沼 亮滋, 上床 尚, 岩田 育子, 松島 理明, 矢部 一郎, 小野 尚子, 浦 茂久, 太田 勝久, 佐々木 秀直, 臨床神経学, 59, 6, 396, 396, 2019年06月
(一社)日本神経学会, 日本語 - 同一家系内における遺伝カウンセリングニーズの比較
柴田 有花, 矢部 一郎, 松島 理明, 橋本 直樹, 佐々木 秀直, 臨床神経学, 59, 6, 395, 395, 2019年06月
(一社)日本神経学会, 日本語 - 刺激装置の変更により脳深部刺療法による開眼失行が改善したパーキンソン病の1例
江口 克紀, 白井 慎一, 大嶌 祐貴, 水島 慶一, 芳野 正修, 脇田 雅大, 岩田 育子, 松島 理明, 山崎 和義, 濱内 祝嗣, 笹森 徹, 関 俊隆, 矢部 一郎, 寳金 清博, 佐々木 秀直, 臨床神経学, 59, 6, 395, 395, 2019年06月
(一社)日本神経学会, 日本語 - Expression change of plasma microRNAs in mutiple system atrophy and Parkinson's disease
Hisashi Uwatoko, Yuka Hama, Shinichi Shirai, Ikuko Takahashi, Masaaki Matsushima, Hideki Houzen, Kazufumi Tsuzaka, Ichiro Yabe, Hidenao Sasaki, NEUROLOGY, 92, 15, 2019年04月
LIPPINCOTT WILLIAMS & WILKINS, 英語, 研究発表ペーパー・要旨(国際会議) - 多発脳神経麻痺を呈し副鼻腔真菌症を伴った肥厚性硬膜炎の1例
芳野 正修, 白井 慎一, 大嶌 祐貴, 水島 慶一, 江口 克紀, 脇田 雅大, 佐藤 雅大, 長沼 亮滋, 上床 尚, 高橋 育子, 松島 理明, 矢部 一郎, 佐々木 秀直, NEUROINFECTION, 24, 1, 75, 75, 2019年04月
日本神経感染症学会, 日本語 - 刺激装置の変更により脳深部刺激法による開眼失行が改善したパーキンソン病の1例
江口克紀, 白井慎一, 大嶌祐貴, 水島慶一, 芳野正修, 脇田雅大, 岩田育子, 松島理明, 山崎和義, 濱内祝嗣, 笹森徹, 関俊隆, 矢部一郎, 寶金清博, 佐々木秀直, 臨床神経学(Web), 59, 6, 2019年 - 髄膜播種性神経サルコイドーシスの1例
岩見昂亮, 大嶌祐貴, 水島慶一, 芳野正修, 江口克紀, 脇田雅大, 佐藤智香, 高橋育子, 白井慎一, 松島理明, 矢部一郎, 佐々木秀直, 河野洋之, 山口秀, 茂木洋晃, 小林浩之, 臨床神経学(Web), 59, 1, 2019年 - 北海道における多系統萎縮症レジストリ研究:HoRC-MSA2014-2018
松島理明, 佐久嶋研, 矢部一郎, 金谷泰宏, 大野浩太, 松岡健, 片山隆行, 上杉春雄, 佐光一也, 武井麻子, 下濱俊, 佐藤典宏, 菊地誠志, 佐々木秀直, 臨床神経学(Web), 59, 1, 2019年 - パーキンソン病に筋萎縮性側索硬化症を合併した1例
水島慶一, 高橋育子, 大嶌祐貴, 芳野正修, 江口克紀, 脇田雅大, 白井慎一, 松島理明, 矢部一郎, 佐々木秀直, 臨床神経学(Web), 59, 1, 2019年 - タンデムマス検査が有用であった極長鎖アシルCoA脱水素酵素(VLCAD)欠損症の1例
水島慶一, 白井慎一, 江口克紀, 脇田雅大, 佐藤智香, 岩田育子, 松島理明, 佐藤和則, 相崎潤子, 但馬剛, 矢部一郎, 佐々木秀直, 臨床神経学(Web), 59, 6, 2019年 - 同一家系内における遺伝カウンセリングニーズの比較
柴田有花, 矢部一郎, 矢部一郎, 松島理明, 松島理明, 橋本直樹, 橋本直樹, 佐々木秀直, 佐々木秀直, 臨床神経学(Web), 59, 6, 2019年 - IgG4関連下垂体炎の経過中に急性発症かつ治療関連変動を示す多発末梢神経障害を認めた1例
芳野正修, 岩見昴亮, 大嶌祐貴, 水島慶一, 江口克紀, 脇田雅大, 佐藤智香, 長沼亮滋, 上床尚, 白井慎一, 高橋育子, 松島理明, 矢部一郎, 佐々木秀直, 臨床神経学(Web), 59, 1, 2019年 - LCIGの導入後にPEG/Jチューブにより十二指腸潰瘍を発症した1例
芳野正修, 白井慎一, 大嶌祐貴, 水島慶一, 江口克紀, 脇田雅大, 佐藤智香, 長沼亮滋, 上床尚, 岩田育子, 松島理明, 矢部一郎, 小野尚子, 浦茂久, 太田勝久, 佐々木秀直, 臨床神経学(Web), 59, 6, 2019年 - 失調症状を主としたX連鎖性Charcot-Marie-Tooth病1型(CMTX1)の1例
大嶌祐貴, 水島慶一, 芳野正修, 江口克紀, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 矢部一郎, 高嶋博, 佐々木秀直, 臨床神経学(Web), 59, 6, 2019年 - ステロイド,免疫グロブリン静注療法が著効したシェーグレン症候群に伴う自己免疫性自律神経節障害の1例
江口克紀, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 矢部一郎, 佐々木秀直, 神経治療学(Web), 36, 6, 2019年 - パーキンソン病に筋萎縮性側索硬化症を合併した1例
水島 慶一, 高橋 育子, 大嶌 祐貴, 芳野 正修, 江口 克紀, 脇田 雅大, 白井 慎一, 松島 理明, 矢部 一郎, 佐々木 秀直, 臨床神経学, 59, 1, 49, 49, 2019年01月
(一社)日本神経学会, 日本語 - てんかん様発作と脳炎様症状を繰り返した神経核内封入体病の1例
大嶌 祐貴, 工藤 彰彦, 水島 慶一, 芳野 正修, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 谷川 聖, 矢部 一郎, 佐々木 秀直, 臨床神経学, 59, 1, 50, 50, 2019年01月
(一社)日本神経学会, 日本語 - IgG4関連下垂体炎の経過中に急性発症かつ治療関連変動を示す多発末梢神経障害を認めた1例
芳野 正修, 岩見 昴亮, 大嶌 祐貴, 水島 慶一, 江口 克紀, 脇田 雅大, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 佐々木 秀直, 臨床神経学, 59, 1, 50, 50, 2019年01月
(一社)日本神経学会, 日本語 - 髄膜播種性神経サルコイドーシスの1例
岩見 昂亮, 大嶌 祐貴, 水島 慶一, 芳野 正修, 江口 克紀, 脇田 雅大, 佐藤 智香, 高橋 育子, 白井 慎一, 松島 理明, 矢部 一郎, 佐々木 秀直, 河野 洋之, 山口 秀, 茂木 洋晃, 小林 浩之, 臨床神経学, 59, 1, 52, 52, 2019年01月
(一社)日本神経学会, 日本語 - 北海道における多系統萎縮症レジストリ研究:HoRC-MSA2014-2018
松島 理明, 佐久嶋 研, 矢部 一郎, 金谷 泰宏, 大野 浩太, 松岡 健, 片山 隆行, 上杉 春雄, 佐光 一也, 武井 麻子, 下濱 俊, 佐藤 典宏, 菊地 誠志, 佐々木 秀直, 北海道保健福祉部健康安全局地域保健課感染症, 特定疾患グループ, 臨床神経学, 59, 1, 49, 49, 2019年01月
(一社)日本神経学会, 日本語 - 神経サルコイドーシス26例の後方視的検討
工藤 彰彦, 佐藤 翔紀, 佐藤 智香, 長沼 亮滋, 上床 尚, 西村 洋昭, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 佐々木 秀直, 臨床神経学, 58, Suppl., S243, S243, 2018年12月
(一社)日本神経学会, 英語 - 脊髄長大病変を呈し抗AQP4抗体陽性であった神経梅毒
水島 慶一, 佐藤 智香, 佐藤 翔紀, 工藤 彰彦, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 森島 穣, 関 俊隆, 寺坂 俊介, 佐々木 秀直, 臨床神経学, 58, Suppl., S452, S452, 2018年12月
(一社)日本神経学会, 日本語 - 「大脳皮質基底核変性症(CBD)mimics」の背景病理 日本人を対象としたCBD検証研究(Background pathology of 'corticobasal degeneration(CBD) mimics': Japanese validation study of CBD)
下畑 享良, 饗場 郁子, 吉田 眞理, 豊島 靖子, 村山 繁雄, 内原 俊記, 新井 哲明, 齋藤 由扶子, 矢部 一郎, 長谷川 隆文, 齊藤 祐子, 瀧川 洋史, 長谷川 一子, 池内 健, 長谷川 成人, 小森 隆司, 若林 孝一, 徳丸 阿耶, 櫻井 圭太, 中島 健二, J-VAC study group, 臨床神経学, 58, Suppl., S239, S239, 2018年12月
(一社)日本神経学会, 英語 - 神経サルコイドーシス26例の後方視的検討
工藤 彰彦, 佐藤 翔紀, 佐藤 智香, 長沼 亮滋, 上床 尚, 西村 洋昭, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 佐々木 秀直, 臨床神経学, 58, Suppl., S243, S243, 2018年12月
(一社)日本神経学会, 英語 - DBS療法における半構造化面接による精神機能評価の有用性
竹内 恵, 矢部 一郎, 白井 慎一, 松島 理明, 加納 崇裕, 笹森 徹, 関 俊隆, 北川 まゆみ, 大槻 美佳, 佐々木 秀直, 臨床神経学, 58, Suppl., S448, S448, 2018年12月
(一社)日本神経学会, 日本語 - 脊髄長大病変を呈し抗AQP4抗体陽性であった神経梅毒
水島 慶一, 佐藤 智香, 佐藤 翔紀, 工藤 彰彦, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 森島 穣, 関 俊隆, 寺坂 俊介, 佐々木 秀直, 臨床神経学, 58, Suppl., S452, S452, 2018年12月
(一社)日本神経学会, 日本語 - 急速に両側声帯麻痺をきたし、新規GFAP遺伝子変化を認めたアレキサンダー病
大嶌 祐貴, 佐藤 翔紀, 工藤 彰彦, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 吉田 誠克, 佐々木 秀直, 臨床神経学, 58, Suppl., S455, S455, 2018年12月
(一社)日本神経学会, 日本語 - IVW-MRIが治療効果判定に有用であった中枢神経限局性血管炎
井上 知彦, 水島 慶一, 工藤 彰彦, 佐藤 翔紀, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 原田 太以佑, 工藤 與亮, 佐々木 秀直, 臨床神経学, 58, Suppl., S456, S456, 2018年12月
(一社)日本神経学会, 日本語 - 多系統萎縮症におけるプロトン密度強調画像を用いた小脳の信号強度の検討
山口 晃典, 原田 太以佑, 松島 理明, 矢部 一郎, 佐々木 秀直, 工藤 與亮, 臨床神経学, 58, Suppl., S241, S241, 2018年12月
(一社)日本神経学会, 日本語 - 性別の違いが発症前診断に与える影響
柴田 有花, 松島 理明, 橋本 直樹, 矢部 一郎, 佐々木 秀直, 臨床神経学, 58, Suppl., S448, S448, 2018年12月
(一社)日本神経学会, 日本語 - DBS療法における半構造化面接による精神機能評価の有用性
竹内 恵, 矢部 一郎, 白井 慎一, 松島 理明, 加納 崇裕, 笹森 徹, 関 俊隆, 北川 まゆみ, 大槻 美佳, 佐々木 秀直, 臨床神経学, 58, Suppl., S448, S448, 2018年12月
(一社)日本神経学会, 日本語 - 急速に両側声帯麻痺をきたし、新規GFAP遺伝子変化を認めたアレキサンダー病
大嶌 祐貴, 佐藤 翔紀, 工藤 彰彦, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 吉田 誠克, 佐々木 秀直, 臨床神経学, 58, Suppl., S455, S455, 2018年12月
(一社)日本神経学会, 日本語 - IVW-MRIが治療効果判定に有用であった中枢神経限局性血管炎
井上 知彦, 水島 慶一, 工藤 彰彦, 佐藤 翔紀, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 原田 太以佑, 工藤 與亮, 佐々木 秀直, 臨床神経学, 58, Suppl., S456, S456, 2018年12月
(一社)日本神経学会, 日本語 - 亜急性進行性の四肢麻痺を呈し広範な神経根浸潤を認めた成熟T細胞性リンパ腫
高橋 育子, 小野澤 真弘, 江口 克紀, 脇田 雅大, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 松島 理明, 矢部 一郎, 佐々木 秀直, 神経治療学, 35, 6, S243, S243, 2018年11月
(一社)日本神経治療学会, 日本語 - 脳深部刺激療法術後2年間における15例の神経心理学的検討
白井 慎一, 矢部 一郎, 山崎 和義, 濱内 祝嗣, 松島 理明, 加納 崇裕, 笹森 徹, 関 俊隆, 北川 まゆみ, 大槻 美佳, 寳金 清博, 佐々木 秀直, パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 12回, 82, 82, 2018年07月
Movement Disorder Society of Japan (MDSJ), 日本語 - 脳深部刺激療法術後2年間における15例の神経心理学的検討
白井慎一, 矢部一郎, 山崎和義, 濱内祝嗣, 松島理明, 加納崇裕, 笹森徹, 関俊隆, 北川まゆみ, 大槻美佳, 寳金清博, 佐々木秀直, パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 12th, 82, 82, 2018年07月
Movement Disorder Society of Japan (MDSJ), 日本語 - 経過中にイレウスを発症した抗PL-7抗体陽性筋症の1例
大嶌 祐貴, 工藤 彰彦, 佐藤 翔紀, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 西村 洋昭, 宮本 秀一, 佐々木 秀直, 臨床神経学, 58, 5, 356, 356, 2018年05月
(一社)日本神経学会, 日本語 - 腹臥位での腰仙椎MRIが診断に有用であった脊髄係留症候群の1例
水島 慶一, 佐藤 翔紀, 工藤 彰彦, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 原田 太以佑, 工藤 與亮, 濱内 祝嗣, 関 俊隆, 佐々木 秀直, 臨床神経学, 58, 5, 358, 358, 2018年05月
(一社)日本神経学会, 日本語 - 起立時の振戦を初発症状としたMachado-Joseph病の1例
白井 慎一, 長沼 亮滋, 佐藤 智香, 高橋 育子, 松島 理明, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 58, 5, 359, 359, 2018年05月
(一社)日本神経学会, 日本語 - GPi-DBSが奏効した遅発性ジスキネジアの1例
佐藤 翔紀, 白井 慎一, 松島 理明, 矢部 一郎, 加納 崇裕, 北川 まゆみ, 山崎 和義, 濱内 祝嗣, 笹森 徹, 関 俊隆, 寳金 清博, 佐々木 秀直, 臨床神経学, 58, 5, 359, 359, 2018年05月
(一社)日本神経学会, 日本語 - 抗NMDAR抗体関連脳炎の既往歴を有する免疫介在性運動ニューロパチーの1例
工藤 彰彦, 佐藤 翔紀, 佐藤 智香, 長沼 亮滋, 上床 尚, 西村 洋昭, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 楠 進, 佐々木 秀直, 臨床神経学, 58, 5, 360, 360, 2018年05月
(一社)日本神経学会, 日本語 - 起立時の振戦を初発症状としたMachado-Joseph病の1例
白井 慎一, 長沼 亮滋, 佐藤 智香, 高橋 育子, 松島 理明, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 58, 5, 359, 359, 2018年05月
(一社)日本神経学会, 日本語 - 抗NMDAR抗体関連脳炎の既往歴を有する免疫介在性運動ニューロパチーの1例
工藤 彰彦, 佐藤 翔紀, 佐藤 智香, 長沼 亮滋, 上床 尚, 西村 洋昭, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 楠 進, 佐々木 秀直, 臨床神経学, 58, 5, 360, 360, 2018年05月
(一社)日本神経学会, 日本語 - 【パーキンソン病(第2版)-基礎・臨床研究のアップデート-】 治療 主な治療薬の種類と特徴 ドパミン作動薬 非麦角系
松島 理明, 矢部 一郎, 日本臨床, 76, 増刊4 パーキンソン病, 448, 454, 2018年05月
(株)日本臨床社, 日本語 - ハンチントン病の夫を持つクライエントが抱える思い
柴田 有花, 松島 理明, 矢部 一郎, 日本遺伝カウンセリング学会誌, 39, 2, 71, 71, 2018年05月
日本遺伝カウンセリング学会, 日本語 - 経過中にイレウスを発症した抗PL-7抗体陽性筋症の1例
大嶌 祐貴, 工藤 彰彦, 佐藤 翔紀, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 西村 洋昭, 宮本 秀一, 佐々木 秀直, 臨床神経学, 58, 5, 356, 356, 2018年05月
(一社)日本神経学会, 日本語 - 腹臥位での腰仙椎MRIが診断に有用であった脊髄係留症候群の1例
水島 慶一, 佐藤 翔紀, 工藤 彰彦, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 矢部 一郎, 原田 太以佑, 工藤 與亮, 濱内 祝嗣, 関 俊隆, 佐々木 秀直, 臨床神経学, 58, 5, 358, 358, 2018年05月
(一社)日本神経学会, 日本語 - ハンチントン病の夫を持つクライエントが抱える思い
柴田 有花, 松島 理明, 矢部 一郎, 日本遺伝カウンセリング学会誌, 39, 2, 71, 71, 2018年05月
日本遺伝カウンセリング学会, 日本語 - GPi-DBSが奏効した遅発性ジスキネジアの1例
佐藤 翔紀, 白井 慎一, 松島 理明, 矢部 一郎, 加納 崇裕, 北川 まゆみ, 山崎 和義, 濱内 祝嗣, 笹森 徹, 関 俊隆, 寳金 清博, 佐々木 秀直, 臨床神経学, 58, 5, 359, 359, 2018年05月
(一社)日本神経学会, 日本語 - 抗NMDAR抗体関連脳炎の既往歴を有する免疫介在性運動ニューロパチーの1例
工藤彰彦, 佐藤翔紀, 佐藤智香, 長沼亮滋, 上床尚, 西村洋昭, 白井慎一, 高橋育子, 松島理明, 矢部一郎, 楠進, 佐々木秀直, 臨床神経学(Web), 58, 5, 2018年 - 腹臥位での腰仙椎MRIが診断に有用であった脊髄係留症候群の1例
水島慶一, 佐藤翔紀, 工藤彰彦, 佐藤智香, 長沼亮滋, 上床尚, 白井慎一, 高橋育子, 松島理明, 矢部一郎, 原田太以佑, 工藤與亮, 浜内祝嗣, 関俊隆, 佐々木秀直, 臨床神経学(Web), 58, 5, 2018年 - 起立時の振戦を初発症状としたMachado-Joseph病の1例
白井慎一, 長沼亮滋, 佐藤智香, 高橋育子, 松島理明, 加納崇裕, 加納崇裕, 矢部一郎, 佐々木秀直, 臨床神経学(Web), 58, 5, 2018年 - 経過中にイレウスを発症した抗PL-7抗体陽性筋症の1例
大嶌祐貴, 工藤彰彦, 佐藤翔紀, 佐藤智香, 長沼亮滋, 上床尚, 白井慎一, 高橋育子, 松島理明, 矢部一郎, 西村洋昭, 宮本秀一, 佐々木秀直, 臨床神経学(Web), 58, 5, 2018年 - GPi‐DBSが奏効した遅発性ジスキネジアの1例
佐藤翔紀, 白井慎一, 松島理明, 矢部一郎, 加納崇裕, 北川まゆみ, 山崎和義, 浜内祝嗣, 笹森徹, 関俊隆, 寳金清博, 佐々木秀直, 臨床神経学(Web), 58, 5, 359(J‐STAGE), 2018年
日本語 - ランバート・イートン筋無力症症候群における3,4-diaminopyridine治療効果の後方視的検討
長沼 亮滋, 矢部 一郎, 高橋 育子, 松島 理明, 加納 崇裕, 佐々木 秀直, 臨床神経学, 58, 2, 83, 87, 2018年
3,4-diaminopyridine(3,4-DAP)を投与した9例のランバート・イートン筋無力症症候群患者の治療効果について後方視的に検討した。3,4-DAPは筋力低下と自律神経異常症に対し有効である一方、傍腫瘍性小脳変性症の小脳性運動失調に無効であった。有効例8例の投与期間は15〜149ヵ月であった。3例が10年以上投与しており、長期間安全に投与できた。2例が小細胞肺癌(small cell lung carcinoma;SCLC)により死亡し、1例がSCLCの悪化で投与中止した。副作用が生じた2例のうち1例は投与中止したが1例は減量し投与継続した。維持用量や副作用の生じた用量には個人差があり、慎重な用量決定を必要とした。(著者抄録), (一社)日本神経学会, 日本語 - 多系統萎縮症様のMRI所見を呈した自己免疫性小脳炎の1例
工藤 彰彦, 佐藤 翔紀, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 西村 洋昭, 高橋 育子, 松島 理明, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 57, 12, 813, 813, 2017年12月
(一社)日本神経学会, 日本語 - 四肢完全麻痺を呈したが長期間の血漿交換療法が奏功した視神経脊髄炎関連疾患の1例
佐藤 智香, 佐藤 翔紀, 工藤 彰彦, 阿部 恵, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 加納 崇裕, 矢部 一郎, 上杉 春雄, 佐々木 秀直, 臨床神経学, 57, 12, 814, 814, 2017年12月
(一社)日本神経学会, 日本語 - ATXN2遺伝子CAGリピート数異常伸長を伴った筋萎縮性側索硬化症の1例
佐藤 翔紀, 工藤 彰彦, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 西村 洋昭, 高橋 育子, 松島 理明, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 57, 12, 816, 816, 2017年12月
(一社)日本神経学会, 日本語 - 北海道における多系統萎縮症レジストリ研究:HoRC-MSA2014-2017
松島 理明, 佐久嶋 研, 矢部 一郎, 金谷 泰宏, 伊藤 陽一, 松岡 健, 片山 隆行, 上杉 春雄, 佐光 一也, 武井 麻子, 下濱 俊, 佐藤 典宏, 菊地 誠志, 佐々木 秀直, 臨床神経学, 57, 12, 813, 813, 2017年12月
(一社)日本神経学会, 日本語 - 中枢神経血管内リンパ腫の5例
工藤 彰彦, 佐藤 翔紀, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 加納 崇裕, 矢部 一郎, 白鳥 聡一, 後藤 秀樹, 加畑 馨, 近藤 健, 佐々木 秀直, 神経治療学, 34, 6, S223, S223, 2017年11月
(一社)日本神経治療学会, 日本語 - 中枢神経血管内リンパ腫の5例
工藤 彰彦, 佐藤 翔紀, 佐藤 智香, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 加納 崇裕, 矢部 一郎, 白鳥 聡一, 後藤 秀樹, 加畑 馨, 近藤 健, 佐々木 秀直, 神経治療学, 34, 6, S223, S223, 2017年11月
日本神経治療学会, 日本語 - 早期wearing-off患者に対するistradefyllineの効果
北川 まゆみ, 矢部 一郎, 高橋 育子, 松島 理明, 佐々木 秀直, パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 11回, 90, 90, 2017年10月
Movement Disorder Society of Japan (MDSJ), 日本語 - 急性脳炎・脳症 自己免疫性脳炎・脳症連続22例の検討
高橋 育子, 白井 慎一, 松島 理明, 加納 崇裕, 矢部 一郎, 渡邊 修, 米田 誠, 田中 惠子, 高橋 幸利, 佐々木 秀直, 神経免疫学, 22, 1, 102, 102, 2017年10月
日本神経免疫学会, 日本語 - 早期wearing-off患者に対するistradefyllineの効果
北川 まゆみ, 矢部 一郎, 高橋 育子, 松島 理明, 佐々木 秀直, パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 11回, 90, 90, 2017年10月
Movement Disorder Society of Japan (MDSJ), 日本語 - 幻視を有するparkinsonism患者6例における視覚誘発脳磁場の検討
長沼 亮滋, 高橋 育子, 松島 理明, 矢部 一郎, 白石 秀明, 森下 きらり, 高橋 香代子, 中根 進児, 佐々木 秀直, 臨床神経生理学, 45, 5, 454, 454, 2017年10月
(一社)日本臨床神経生理学会, 日本語 - 脳深部刺激療法術前後の体重変化に関する検討
白井 慎一, 松島 理明, 加納 崇裕, 山崎 和義, 濱内 祝嗣, 笹森 徹, 関 俊隆, 矢部 一郎, 北川 まゆみ, 大槻 美佳, 寳金 清博, 佐々木 秀直, パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 11回, 91, 91, 2017年10月
Movement Disorder Society of Japan (MDSJ), 日本語 - 脳深部刺激療法術前後の体重変化に関する検討
白井慎一, 松島理明, 加納崇裕, 山崎和義, 濱内祝嗣, 笹森徹, 関俊隆, 矢部一郎, 北川まゆみ, 大槻美佳, 寳金清博, 佐々木秀直, パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 11th, 91, 91, 2017年10月
Movement Disorder Society of Japan (MDSJ), 日本語 - 急性脳炎・脳症 自己免疫性脳炎・脳症連続22例の検討
高橋 育子, 白井 慎一, 松島 理明, 加納 崇裕, 矢部 一郎, 渡邊 修, 米田 誠, 田中 惠子, 高橋 幸利, 佐々木 秀直, 神経免疫学, 22, 1, 102, 102, 2017年10月
日本神経免疫学会, 日本語 - 免疫介在性小脳失調症例で同定した抗Sez6l2抗体はSez6l2とGluR1の結合を阻害することにより病原性を呈する
矢口 裕章, 高橋 秀尚, 矢部 一郎, 渡辺 雅彦, 畠山 鎮次, 神経免疫学, 22, 1, 130, 130, 2017年10月
日本神経免疫学会, 日本語 - パーキンソン病患者に対するアデノシンA2A受容体拮抗薬の排尿症状に対する長期効果の検討
橘田 岳也, 矢部 一郎, 菅野 由岐子, 樋口 まどか, 大内 みふか, 東郷 未緒, 守屋 仁彦, 佐々木 秀直, 篠原 信雄, 日本排尿機能学会誌, 28, 1, 225, 225, 2017年09月
(一社)日本排尿機能学会, 日本語 - 脳生検により診断した進行性多巣性白質脳症の長期生存例
佐藤 翔紀, 白井 慎一, 高橋 育子, 矢部 一郎, 遠藤 知之, 豊嶋 崇徳, 山口 秀, 桑原 健, 畑中 佳奈子, 松野 吉宏, 今村 顕史, 三浦 義治, 中道 一生, 西條 政幸, 佐々木 秀直, NEUROINFECTION, 22, 2, 244, 244, 2017年09月
日本神経感染症学会, 日本語 - ADENOSINE A2A RECEPTOR ANTAGONIST ISTRADEFYLLINE IMPROVES LOWER URINARY TRACT SYMPTOMS IN PATIENTS WITH PARKINSON'S DISEASE IN A LONG-TERM PERIOD
T. Kitta, Yabe, I, Y. Kanno, M. Ouchi, M. Higuchi, M. Togo, K. Moriya, Takahashi, I, M. Matsushima, H. Sasaki, N. Shinohara, NEUROUROLOGY AND URODYNAMICS, 36, S535, S536, 2017年07月
WILEY, 英語, 研究発表ペーパー・要旨(国際会議) - Quantitative Evaluation of Gait Ataxia by Triaxial Accelerometers is More Sensitive than SARA within 1.5 Years
S. Shirai, I. Yabe, M. Matsushima, Y. Ito, M. Yoneyama, H. Sasaki, MOVEMENT DISORDERS, 32, 2017年06月
WILEY, 英語, 研究発表ペーパー・要旨(国際会議) - 反応性低血糖発作が先行し麻痺性イレウスの治療に難渋した自己免疫性自律神経節障害の1例
高橋 育子, 阿部 恵, 長井 梓, 上床 尚, 平田 恵里奈, 長沼 亮滋, 西村 洋昭, 白井 慎一, 松島 理明, 加納 崇裕, 三好 秀明, 矢部 一郎, 中根 俊成, 佐々木 秀直, 自律神経, 54, 2, 170, 170, 2017年06月
日本自律神経学会, 日本語 - ニボルマブ投与後に重症筋無力症様症状およびミオパチーを呈した1例
佐藤 翔紀, 西村 洋昭, 阿部 恵, 長沼 亮滋, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 高階 太一, 臨床神経学, 57, 6, 319, 319, 2017年06月
(一社)日本神経学会, 日本語 - 抗ganglionicアセチルコリン受容体抗体が陽性であった自己免疫性自律神経障害の高齢発症例
長沼 亮滋, 阿部 恵, 上床 尚, 白井 慎一, 西村 洋昭, 高橋 育子, 松島 理明, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 樋口 理, 前田 泰宏, 向野 晃弘, 中根 俊成, 臨床神経学, 57, 6, 320, 320, 2017年06月
(一社)日本神経学会, 日本語 - 発症前診断を実施した神経疾患の2例
柴田 有花, 松島 理明, 江口 克紀, 矢部 一郎, 佐々木 秀直, 臨床神経学, 57, 6, 321, 321, 2017年06月
(一社)日本神経学会, 日本語 - 成人発症のAlexander病の1例
阿部 恵, 西村 洋昭, 長沼 亮滋, 白井 慎一, 高橋 育子, 松島 理明, 加納 崇裕, 矢部 一郎, 原田 太以佑, 藤間 憲幸, 工藤 與亮, 吉田 誠克, 佐々木 秀直, 臨床神経学, 57, 6, 322, 322, 2017年06月
(一社)日本神経学会, 日本語 - 脳深部刺激療法後術後12ヵ月まで追跡したパーキンソン病11例のまとめ
白井 慎一, 松島 理明, 加納 崇裕, 矢部 一郎, 北川 まゆみ, 佐々木 秀直, 濱内 祝嗣, 笹森 徹, 関 俊隆, 宝金 清博, 大槻 美佳, 臨床神経学, 57, 6, 322, 322, 2017年06月
(一社)日本神経学会, 日本語 - 軽症wearing-offに対するistradefyllineの効果
松島 理明, 高橋 育子, 矢部 一郎, 北川 まゆみ, 佐々木 秀直, 臨床神経学, 57, 6, 322, 322, 2017年06月
(一社)日本神経学会, 日本語 - 反応性低血糖発作が先行し麻痺性イレウスの治療に難渋した自己免疫性自律神経節障害の1例
高橋 育子, 阿部 恵, 長井 梓, 上床 尚, 平田 恵里奈, 長沼 亮滋, 西村 洋昭, 白井 慎一, 松島 理明, 加納 崇裕, 三好 秀明, 矢部 一郎, 中根 俊成, 佐々木 秀直, 自律神経, 54, 2, 170, 170, 2017年06月
日本自律神経学会, 日本語 - 体細胞変異を対象とした網羅的がん遺伝子検査におけるIncidental Findingsとしての生殖細胞系列変異への対応
柴田 有花, 山田 崇弘, 西原 広史, 林 秀幸, 秋田 弘俊, 矢部 一郎, 日本遺伝カウンセリング学会誌, 38, 2, 107, 107, 2017年05月
日本遺伝カウンセリング学会, 日本語 - ハンチントン病の発症前診断に関わる遺伝カウンセリング
松島 理明, 柴田 有花, 中川 伸, 山田 崇弘, 矢部 一郎, 佐々木 秀直, 日本遺伝カウンセリング学会誌, 38, 2, 100, 100, 2017年05月
日本遺伝カウンセリング学会, 日本語 - LONG-TERM OUTCOME OF ADENOSINE A2A RECEPTOR ANTAGONIST ON LOWER URINARY TRACT SYMPTOMS IN MALE PARKINSON'S DISEASE PATIENTS
Takeya Kitta, Ichiro Yabe, Yukiko Kanno, Ouchi Mifuka, Kimihiko Moriya, Ikuko Takahashi, Masaaki Matsushima, Hidenao Sasaki, Nobuo Shinohara, JOURNAL OF UROLOGY, 197, 4, E1263, E1264, 2017年04月
ELSEVIER SCIENCE INC, 英語, 研究発表ペーパー・要旨(国際会議) - 抗ganglionicアセチルコリン受容体抗体が陽性であった自己免疫性自律神経障害の高齢発症例
長沼亮滋, 阿部恵, 上床尚, 白井慎一, 西村洋昭, 高橋育子, 松島理明, 加納崇裕, 矢部一郎, 佐々木秀直, 樋口理, 前田泰宏, 向野晃弘, 中根俊成, 臨床神経学(Web), 57, 6, 2017年 - 脳深部刺激療法後術後12ヶ月まで追跡したパーキンソン病11例のまとめ
白井慎一, 松島理明, 加納崇裕, 矢部一郎, 北川まゆみ, 佐々木秀直, 濱内祝嗣, 笹森徹, 関俊隆, 宝金清博, 大槻美佳, 臨床神経学(Web), 57, 6, 2017年 - 四肢完全麻痺を呈したが長期間の血漿交換療法が奏功した視神経脊髄炎関連疾患の1例
佐藤智香, 佐藤翔紀, 工藤彰彦, 阿部恵, 長沼亮滋, 上床尚, 白井慎一, 高橋育子, 松島理明, 加納崇裕, 矢部一郎, 上杉春雄, 佐々木秀直, 臨床神経学(Web), 57, 12, 2017年 - ニボルマブ投与後に重症筋無力症様症状およびミオパチーを呈した1例
佐藤翔紀, 西村洋昭, 阿部恵, 長沼亮滋, 上床尚, 白井慎一, 高橋育子, 松島理明, 加納崇裕, 矢部一郎, 佐々木秀直, 高階太一, 臨床神経学(Web), 57, 6, 2017年 - 成人発症のAlexander病の1例
阿部恵, 西村洋昭, 長沼亮滋, 白井慎一, 高橋育子, 松島理明, 加納崇裕, 矢部一郎, 原田太以佑, 藤間憲幸, 工藤與亮, 吉田誠克, 佐々木秀直, 臨床神経学(Web), 57, 6, 2017年 - 家族性進行性核上性麻痺の遺伝子解析に基づいた孤発性進行性核上性麻痺の遺伝子解析
矢部 一郎, 加藤 容崇, 谷川 聖, 三木 康生, 白井 慎一, 高橋 育子, 矢口 裕章, 藤岡 伸助, 國枝 保幸, 西原 広史, 田中 伸哉, 坪井 義夫, 若林 孝一, 佐々木 秀直, 臨床神経学, 56, Suppl., S317, S317, 2016年12月
(一社)日本神経学会, 日本語 - パーキンソン病患者に対するアデノシンA2A受容体拮抗薬「イストラデフィリン」の排尿症状に対する効果
橘田 岳也, 矢部 一郎, 菅野 由岐子, 千葉 博基, 大内 みふか, 守屋 仁彦, 高橋 育子, 松島 理明, 佐々木 秀直, 篠原 信雄, 日本排尿機能学会誌, 27, 1, 193, 193, 2016年12月
(一社)日本排尿機能学会, 日本語 - 当院における神経・筋疾患の遺伝カウンセリングの現状と役割の検討
柴田 有花, 松島 理明, 山田 崇弘, 矢部 一郎, 佐々木 秀直, 臨床神経学, 56, Suppl., S263, S263, 2016年12月
(一社)日本神経学会, 日本語 - 脊髄小脳変性症における歩行解析(第二報)
白井 慎一, 矢部 一郎, 松島 理明, 伊藤 陽一, 米山 満, 佐々木 秀直, 臨床神経学, 56, Suppl., S487, S487, 2016年12月
(一社)日本神経学会, 日本語 - 多発性筋炎/皮膚筋炎患者の血清CK値が正常化するのに要する治療期間の検討
西村 洋昭, 長井 梓, 小渡 貴司, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 中野 史人, 廣谷 真, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 56, Suppl., S493, S493, 2016年12月
(一社)日本神経学会, 日本語 - 北海道における多系統萎縮症レジストリ研究:HoRC‐MSA
松島理明, 佐久嶋研, 矢部一郎, 伊藤陽一, 片山隆行, 佐光一也, 森満, 下濱俊, 佐藤典宏, 菊地誠志, 佐々木秀直, 日本神経学会学術大会プログラム・抄録集, 57th, Suppl., 651, S484, 2016年12月
(一社)日本神経学会, 日本語 - プライマー領域に多型を認めた家族性アミロイドポリニューロパチー(ATTR-FAP)の1例
柴田 有花, 松島 理明, 長井 梓, 高橋 育子, 加納 崇裕, 関島 良樹, 矢部 一郎, 佐々木 秀直, 臨床神経学, 56, 11, 801, 801, 2016年11月
(一社)日本神経学会, 日本語 - Lambert-Eaton筋無力症候群に対して3,4-diaminopyridineを投与した9例の検討
長沼 亮滋, 阿部 恵, 上床 尚, 西村 洋昭, 白井 慎一, 高橋 育子, 松島 理明, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 56, 11, 801, 801, 2016年11月
(一社)日本神経学会, 日本語 - 両側中心後回病変によってpseudoathetosisを呈したMELASの1例
阿部 恵, 平田 恵里奈, 長沼 亮滋, 上床 尚, 白井 慎一, 西村 洋昭, 高橋 育子, 松島 理明, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 56, 11, 805, 805, 2016年11月
(一社)日本神経学会, 日本語 - 反応性低血糖発作が先行し麻痺性イレウスの治療に難渋した自己免疫性自律神経節障害の1例
高橋 育子, 阿部 恵, 長井 梓, 上床 尚, 平田 恵里奈, 長沼 亮滋, 西村 洋昭, 白井 慎一, 松島 理明, 加納 崇裕, 三好 秀明, 矢部 一郎, 佐々木 秀直, 日本自律神経学会総会プログラム・抄録集, 69回, 108, 108, 2016年11月
日本自律神経学会, 日本語 - 北海道における多系統萎縮症のレジストリ研究 HoRC-MSA 2015-2016
松島 理明, 佐久嶋 研, 矢部 一郎, 金谷 泰宏, 伊藤 陽一, 片山 隆行, 佐光 一也, 武井 麻子, 森 満, 下濱 俊, 佐藤 典宏, 菊地 誠志, 佐々木 秀直, 北海道保健福祉部健康安全局地域保健課感染症, 特定疾患グループ, 臨床神経学, 56, 11, 802, 802, 2016年11月
(一社)日本神経学会, 日本語 - 家族性痙性対麻痺による両下肢の痙縮症状に対するバクロフェン髄注療法
加納 崇裕, 白井 慎一, 矢部 一郎, 濱内 祝嗣, 笹森 徹, 関 俊隆, 寶金 清博, 佐々木 秀直, 神経治療学, 33, 5, S193, S193, 2016年10月
日本神経治療学会, 日本語 - 脳深部刺激療法とそれに先行して実施したバクロフェン髄注療法が有効であった全身性ジストニアの1例
白井 慎一, 加納 崇裕, 長沼 亮滋, 松島 理明, 矢部 一郎, 笹森 徹, 濱内 祝嗣, 関 俊隆, 寳金 清博, 佐々木 秀直, 神経治療学, 33, 5, S204, S204, 2016年10月
日本神経治療学会, 日本語 - Spinocerebellar ataxia type 14 family with a novel PRKCG mutation
Ichiro Yabe, Mari Kimura, Shinichi Shirai, Ikuko Takahashi, Masaaki Matsushima, Hidenao Sasaki, NEUROLOGY AND CLINICAL NEUROSCIENCE, 4, 5, 199, +, 2016年09月
WILEY, 英語, その他 - 5年間の軽快期間を経て再発した結核性髄膜炎の治療にINH髄注療法が有用であった1例
阿部 恵, 高橋 育子, 長沼 亮滋, 上床 尚, 西村 洋昭, 白井 慎一, 松島 理明, 加納 崇裕, 矢部 一郎, 佐々木 秀直, NEUROINFECTION, 21, 2, 202, 202, 2016年09月
日本神経感染症学会, 日本語 - Clinical efficacy of istradefylline on lower urinary tract symptoms in Parkinson's disease: A prospective study
T. Kitta, I. Yabe, Y. Kanno, H. Chiba, K. Moriya, I. Takahashi, M. Matsushima, H. Sasaki, N. Shinohara, MOVEMENT DISORDERS, 31, S93, S94, 2016年06月
WILEY-BLACKWELL, 英語, 研究発表ペーパー・要旨(国際会議) - The score changes of clinical symptom assessment scales for multiple system atrophy in 2-3 years
M. Matsushima, I. Yabe, I. Takahashi, K. Sakushima, F. Nakano, M. Hirotani, T. Kano, K. Horiuchi, H. Houzen, H. Sasaki, MOVEMENT DISORDERS, 31, S59, S59, 2016年06月
WILEY-BLACKWELL, 英語, 研究発表ペーパー・要旨(国際会議) - 脳深部刺激療法(DBS)の刺激周波数変更によって歩行障害が改善したパーキンソン病(PD)の1例
上床 尚, 長井 梓, 小渡 貴司, 白井 慎一, 松島 理明, 中野 史人, 廣谷 真, 加納 崇裕, 北川 まゆみ, 大槻 美佳, 笹森 徹, 関 俊隆, 矢部 一郎, 寶金 清博, 佐々木 秀直, 臨床神経学, 56, 6, 450, 450, 2016年06月
(一社)日本神経学会, 日本語 - 当院における神経・筋疾患遺伝カウンセリングの現状
柴田 有花, 松島 理明, 矢部 一郎, 佐々木 秀直, 臨床神経学, 56, 6, 450, 450, 2016年06月
(一社)日本神経学会, 日本語 - 上肢・頭部の振戦と体幹失調を契機に診断に至ったWilson病の1例
小渡 貴司, 長井 梓, 上床 尚, 白井 慎一, 松島 理明, 中野 史人, 加納 崇裕, 廣谷 真, 矢部 一郎, 佐々木 秀直, 臨床神経学, 56, 6, 450, 450, 2016年06月
(一社)日本神経学会, 日本語 - 多発神経障害と心不全を呈したトランスサイレチンアミロイドーシス(ATTR)の1例
長井 梓, 上床 尚, 小渡 貴司, 中野 史人, 松島 理明, 加納 崇裕, 廣谷 真, 矢部 一郎, 佐々木 秀直, 臨床神経学, 56, 6, 450, 450, 2016年06月
(一社)日本神経学会, 日本語 - 両側GPi-DBSにより嚥下機能改善を認めた頸部ジストニアの1例
笹森 徹, 浜内 祝嗣, 関 俊隆, 松島 理明, 加納 崇裕, 矢部 一郎, 安彦 かがり, 佐々木 秀直, 寳金 清博, 臨床神経学, 56, 6, 450, 450, 2016年06月
(一社)日本神経学会, 日本語 - CLINICAL EFFICACY OF ADENOSINE A2A RECEPTOR ANTAGONIST ON LOWER URINARY TRACT SYMPTOMS IN PARKINSON'S DISEASE: A PROSPECTIVE STUDY
Takeya Kitta, Ichiro Yabe, Yukiko Kanno, Kimihiko Moriya, Ikuko Takahashi, Masaaki Matsushima, Hidenao Sasaki, Nobuo Shinohara, JOURNAL OF UROLOGY, 195, 4, E186, E187, 2016年04月
ELSEVIER SCIENCE INC, 英語, 研究発表ペーパー・要旨(国際会議) - 北海道における多系統萎縮症のレジストリ研究:HoRC-MSA 2015-2016
松島理明, 佐久嶋研, 矢部一郎, 金谷泰宏, 伊藤陽一, 片山隆行, 佐光一也, 武井麻子, 森満, 下濱俊, 佐藤典宏, 菊地誠志, 佐々木秀直, 臨床神経学(Web), 56, 11, 2016年 - プライマー領域に多型を認めた家族性アミロイドポリニューロパチー(ATTR-FAP)の1例
柴田有花, 松島理明, 松島理明, 長井梓, 高橋育子, 加納崇裕, 関島良樹, 矢部一郎, 矢部一郎, 佐々木秀直, 佐々木秀直, 臨床神経学(Web), 56, 11, 2016年 - 両側GPi-DBSにより嚥下機能改善を認めた頚部ジストニアの1例
笹森徹, 浜内祝嗣, 関俊隆, 松島理明, 加納崇裕, 矢部一郎, 安彦かがり, 佐々木秀直, 寶金清博, 臨床神経学(Web), 56, 6, 2016年 - 当院における遺伝性乳がん・卵巣がん症候群の遺伝カウンセリングの現状
柴田 有花, 細田 充主, 三田村 卓, 山田 崇弘, 矢部 一郎, 山下 啓子, 三田村 卓, 山田 崇弘, 渡利 英道, 櫻木 範明, 炭山 峰華, 北海道外科雑誌, 60, 2, 231, 231, 2015年12月
北海道外科学会, 日本語 - 延髄腹側病変で発症しELISA法でAQP4陰性であったNMO spectrum disordersの1例
白井 慎一, 津坂 和文, 高橋 利幸, 矢部 一郎, 佐々木 秀直, 臨床神経学, 55, 12, 947, 947, 2015年12月
(一社)日本神経学会, 日本語 - 未破裂巨大脳底動脈瘤の完全血栓化により脳幹梗塞に至った1例
脇田 雅大, 江口 克紀, 長井 梓, 上床 尚, 高橋 育子, 西村 洋昭, 松島 理明, 中野 史人, 加納 崇裕, 廣谷 真, 矢部 一郎, 佐々木 秀直, 臨床神経学, 55, 12, 943, 943, 2015年12月
(一社)日本神経学会, 日本語 - 脳深部刺激療法前後での心理学的評価項目の変化について
加納 崇裕, 松島 理明, 矢部 一郎, 北川 まゆみ, 佐々木 秀直, 大槻 美佳, 濱内 祝嗣, 笹森 徹, 関 俊隆, 寶金 清博, 井上 猛, 臨床神経学, 55, 12, 945, 945, 2015年12月
(一社)日本神経学会, 日本語 - 北海道における多系統萎縮症のレジストリ研究 HoRC-MSA step2
松島 理明, 佐久嶋 研, 矢部 一郎, 伊藤 陽一, 片山 隆行, 佐光 一也, 森 満, 下濱 俊, 佐藤 典宏, 菊地 誠志, 佐々木 秀直, 臨床神経学, 55, 12, 945, 945, 2015年12月
(一社)日本神経学会, 日本語 - 手指伸展障害のみを呈した筋サルコイドーシスの1例
上床 尚, 江口 克紀, 長井 梓, 脇田 雅大, 松島 理明, 中野 史人, 廣谷 真, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 55, 12, 946, 946, 2015年12月
(一社)日本神経学会, 日本語 - 抗SRP抗体が陽性であった壊死性筋炎の一例
江口 克紀, 脇田 雅大, 長井 梓, 上床 尚, 高橋 育子, 松島 理明, 中野 史人, 廣谷 真, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 55, 12, 947, 947, 2015年12月
(一社)日本神経学会, 日本語 - 下位腸管運動障害と尿閉を合併した亜急性自律神経障害で免疫グロブリン療法が奏効した1例
長井 梓, 江口 克紀, 脇田 雅大, 上床 尚, 中野 史人, 松島 理明, 加納 崇裕, 廣谷 真, 矢部 一郎, 佐々木 秀直, 臨床神経学, 55, 12, 948, 948, 2015年12月
(一社)日本神経学会, 日本語 - 北海道における多系統萎縮症のレジストリ研究:HoRC‐MSA step 2
松島理明, 佐久嶋研, 矢部一郎, 伊藤陽一, 片山隆行, 佐光一也, 森満, 下濱俊, 佐藤典宏, 菊地誠志, 佐々木秀直, 臨床神経学(Web), 55, 12, 945(J‐STAGE), 945, 2015年12月
(一社)日本神経学会, 日本語 - 多系統萎縮症の遺伝学的検討
三井 純, 松川 敬志, 佐々木 秀直, 矢部 一朗, 松島 理明, Duerr Alexandra, Brice Alexis, 高嶋 博, 辻 省次, 臨床神経学, 55, Suppl., S130, S130, 2015年12月
(一社)日本神経学会, 日本語 - シクロフォスファミド静注療法が奏効した自己免疫性自律神経節障害の1例
加納崇裕, 濱内朗子, 廣谷真, 矢部一郎, 中根俊成, 樋口理, 佐々木秀直, 神経治療学, 32, 5, 772, 2015年09月25日
日本語 - 当院におけるdopamine transporter SPECTのまとめ
白井 慎一, 津坂 和文, 矢部 一郎, 佐々木 秀直, 臨床神経学, 55, 9, 680, 680, 2015年09月
(一社)日本神経学会, 日本語 - 捻転ジストニアに対するバクロフェン髄注療法投与方法の検討
長沼 亮滋, 佐藤 智香, 高橋 育子, 松島 理明, 中野 史人, 佐藤 和則, 廣谷 真, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 笹森 徹, 関 俊隆, 寶金 清博, 松尾 雄一郎, 生駒 一憲, 臨床神経学, 55, 9, 681, 681, 2015年09月
(一社)日本神経学会, 日本語 - II型呼吸不全を契機に診断された成人発症型ネマリンミオパチーの1例
佐藤 智香, 長沼 亮滋, 高橋 育子, 松島 理明, 中野 史人, 廣谷 真, 佐藤 和則, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 55, 9, 681, 681, 2015年09月
(一社)日本神経学会, 日本語 - 筋強直性ジストロフィーの遺伝カウンセリング 3症例の報告
柴田 有花, 松島 理明, 山田 崇弘, 田島 敏広, 矢部 一郎, 佐々木 秀直, 神経治療学, 32, 5, 868, 868, 2015年09月
日本神経治療学会, 日本語 - 脊髄小脳失調症6型の多施設共同自然史研究
安井 建一, 矢部 一郎, 吉田 邦広, 金井 数明, 澤井 摂, 新井 公人, 伊藤 瑞規, 小野寺 理, 足立 芳樹, 佐々木 秀直, 桑原 聡, 祖父江 元, 西澤 正豊, 中島 健二, 神経治療学, 32, 5, 767, 767, 2015年09月
日本神経治療学会, 日本語 - 著明な硬膜肥厚を認め、軟膜に高度の炎症性変化を認めたリウマチ性髄膜炎の1例
白井 慎一, 津坂 和文, 山崎 和義, 高橋 達郎, 矢部 一郎, 佐々木 秀直, 北海道医学雑誌, 90, 1, 77, 77, 2015年05月
北海道医学会, 日本語 - 肺小細胞癌治療後に発症した抗CV2抗体陽性脊髄症の1例
佐藤智香, 長沼亮滋, 中野史人, 加納崇裕, 佐藤和則, 廣谷真, 矢部一郎, 榊原純, 大泉聡史, 佐々木秀直, 臨床神経学(Web), 55, 2, 132(J‐STAGE), 132, 2015年02月
(一社)日本神経学会, 日本語 - チーム医療としての脳深部刺激療法 今後の課題
加納 崇裕, 佐藤 智香, 長沼 亮滋, 高橋 育子, 松島 理明, 中野 史人, 佐藤 和則, 廣谷 真, 矢部 一郎, 北川 まゆみ, 佐々木 秀直, 井上 猛, 笹森 徹, 関 俊隆, 寶金 清博, 臨床神経学, 55, 2, 130, 130, 2015年02月
(一社)日本神経学会, 日本語 - 北海道における多系統萎縮症の疫学的実態 HoRC-MSAプロジェクト
佐久嶋 研, 西本 尚樹, 松島 理明, 野島 正寛, 矢部 一郎, 森 満, 佐藤 典宏, 佐々木 秀直, 臨床神経学, 55, 2, 131, 131, 2015年02月
(一社)日本神経学会, 日本語 - 北海道における多系統萎縮症の疫学的実態:HoRC-MSAプロジェクト
佐久嶋研, 西本尚樹, 松島理明, 野島正寛, 矢部一郎, 森満, 佐藤典宏, 佐々木秀直, 臨床神経学(Web), 55, 2, 2015年 - II型呼吸不全を契機に診断された成人発症型ネマリンミオパチーの1例
佐藤智香, 長沼亮慈, 高橋育子, 松島理明, 中野史人, 廣谷真, 佐藤和則, 加納崇裕, 矢部一郎, 佐々木秀直, 臨床神経学(Web), 55, 9, 2015年 - 捻転ジストニアに対するバクロフェン髄注療法投与方法の検討
長沼亮滋, 佐藤智香, 高橋育子, 松島理明, 中野史人, 佐藤和則, 廣谷真, 加納崇裕, 矢部一郎, 佐々木秀直, 笹森徹, 関俊隆, 寶金清博, 松尾雄一郎, 生駒一憲, 臨床神経学(Web), 55, 9, 2015年 - 抗PL-7抗体陽性筋炎の1例-anti-synthetase syndromeの臨床像と筋病理像の検討-
松島理明, 清水裕香, 清水裕香, 高橋育子, 佐藤和則, 廣谷真, 加納崇裕, 矢部一郎, 佐々木秀直, 臨床神経学(Web), 55, 11, 2015年 - 抗SRP抗体が陽性であった壊死性筋炎の一例
江口克紀, 脇田雅大, 長井梓, 上床尚, 高橋育子, 松島理明, 中野史人, 廣谷真, 加納崇裕, 矢部一郎, 佐々木秀直, 臨床神経学(Web), 55, 12, 2015年 - 下位腸管運動障害と尿閉を合併した亜急性自律神経障害で免疫グロブリン療法が奏効した1例
長井梓, 江口克紀, 脇田雅大, 上床尚, 中野史人, 松島理明, 加納崇裕, 廣谷真, 矢部一郎, 佐々木秀直, 臨床神経学(Web), 55, 12, 2015年 - 未破裂巨大脳底動脈瘤の完全血栓化により脳幹梗塞に至った1例
脇田雅大, 江口克紀, 長井梓, 上床尚, 高橋育子, 西村洋昭, 松島理明, 中野史人, 加納崇裕, 廣谷真, 矢部一郎, 佐々木秀直, 臨床神経学(Web), 55, 12, 2015年 - 手指伸展障害のみを呈した筋サルコイドーシスの1例
上床尚, 江口克紀, 長井梓, 脇田雅大, 松島理明, 中野史人, 廣谷真, 加納崇裕, 矢部一郎, 佐々木秀直, 臨床神経学(Web), 55, 12, 2015年 - 脳深部刺激療法前後での心理学的評価項目の変化について
加納崇裕, 松島理明, 矢部一郎, 北川まゆみ, 佐々木秀直, 大槻美佳, 濱内祝嗣, 笹森徹, 関俊隆, 寶金清博, 井上猛, 臨床神経学(Web), 55, 12, 2015年 - パーキンソン病における脳深部刺激療法後の脳血流,糖代謝と認知・心理学的評価の変化
加納崇裕, 佐藤智香, 長沼亮滋, 高橋育子, 松島理明, 中野史人, 佐藤和則, 廣谷真, 矢部一郎, 北川まゆみ, 井上猛, 志賀哲, 笹森徹, 関俊隆, 寳金清博, 佐々木秀直, 日本神経学会学術大会プログラム・抄録集, 56th, 441, 2015年
日本語 - 抗神経抗体抗原であるSez6l2はAMPA受容体とADDの複合体を形成しシグナル伝達を促進する
矢口裕章, 矢口裕章, 矢口裕章, 高橋秀尚, 矢部一郎, 渡辺雅彦, 畠山鎮次, 佐々木秀直, Neuroimmunology, 20, 1, 79, 2015年
日本語 - 進行性多巣性白質脳症 (PML)
廣谷 真, 矢部一郎, 佐々木秀直, HIV感染症 診断・治療・看護マニュアル 改訂第10版, 82, 84, 2015年
日本語 - 脳力アップ習慣
矢部一郎, 大槻美佳, 道新ポケットブック 2015年10月号, 2015年
日本語 - トキソプラズマ脳症 (cerebral toxoplasmosis)
矢部一郎, 佐々木秀直, HIV感染症 診断・治療・看護マニュアル 改訂第10版, 85, 88, 2015年
日本語 - 進行性核上性麻痺類似の臨床症状を呈する遺伝性神経疾患家系の遺伝子解析研究
矢部 一郎, 白井 慎一, 高橋 育子, 中野 史人, 佐藤 和則, 廣谷 真, 加納 崇裕, 國枝 保幸, 佐々木 秀直, 臨床神経学, 54, Suppl., S94, S94, 2014年12月
(一社)日本神経学会, 日本語 - 北海道における多系統萎縮症の疫学的実態:HoRC‐MSAプロジェクト
佐久嶋研, 西本尚樹, 野島正寛, 松島理明, 矢部一郎, 佐藤典宏, 森満, 佐々木秀直, 日本神経学会学術大会プログラム・抄録集, 55th, Suppl., 507, S38, 2014年12月
(一社)日本神経学会, 日本語 - 多系統萎縮症における症状評価スケールの比較(第2報)
松島 理明, 矢部 一郎, 佐久嶋 研, 大庭 幸治, 水戸 泰紀, 武井 麻子, 保前 英希, 津坂 和文, 吉田 一人, 丸尾 泰則, 佐々木 秀直, 臨床神経学, 54, Suppl., S146, S146, 2014年12月
(一社)日本神経学会, 日本語 - 脳幹のBalo病巣で発症したNMO spectrum disorderの1例
廣谷 真, 白井 慎一, 佐藤 和則, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 54, 10, 834, 834, 2014年10月
(一社)日本神経学会, 日本語 - 著明な髄液糖低下を認めた中枢神経原発悪性リンパ腫の1例
白井 慎一, 磯部 正則, 高橋 達郎, 津坂 和文, 矢部 一郎, 佐々木 秀直, 臨床神経学, 54, 10, 835, 835, 2014年10月
(一社)日本神経学会, 日本語 - 抗PL-7抗体陽性多発筋炎の1例
松島 理明, 清水 裕香, 高橋 育子, 笹森 徹, 佐藤 和則, 廣谷 真, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 54, 10, 836, 836, 2014年10月
(一社)日本神経学会, 日本語 - 脊髄小脳変性症における歩行解析
白井 慎一, 松島 理明, 矢部 一郎, 佐々木 秀直, 神経治療学, 31, 5, 618, 618, 2014年09月
日本神経治療学会, 日本語 - 神経内科における髄腔内バクロフェン療法の適応と課題 当科での治療経験を踏まえて
加納 崇裕, 佐藤 智香, 長沼 亮滋, 高橋 育子, 松島 理明, 中野 史人, 佐藤 和則, 廣谷 真, 矢部 一郎, 笹森 徹, 関 俊隆, 宝金 清博, 佐々木 秀直, 神経治療学, 31, 5, 638, 638, 2014年09月
日本神経治療学会, 日本語 - Comparison of different symptom assessment scales for multiple system atrophy - Second report
M. Matsushima, I. Yabe, K. Oba, K. Sakushima, Y. Mito, A. Takei, H. Hozen, K. Tsuzaka, K. Yoshida, Y. Maruo, H. Sasaki, MOVEMENT DISORDERS, 29, S178, S178, 2014年05月
WILEY-BLACKWELL, 英語, 研究発表ペーパー・要旨(国際会議) - 神経変性疾患に関する調査研究 脊髄空洞症のゲノム構造多型(CNV)解析
佐々木秀直, 浜結香, 佐久嶋研, 加納崇裕, 廣谷真, 矢部一郎, 瀧川一学, 神経変性疾患に関する調査研究 平成25年度 総括・分担研究報告書, 128, 129, 2014年
日本語 - 運動失調症の病態解明と治療法開発に関する研究 ゲノムコピー数多型による多系統萎縮症発症素因の解析
佐々木秀直, 浜結香, 松島理明, 矢部一郎, 瀧川一学, 内海潤, 運動失調症の病態解明と治療法開発に関する研究 平成25年度 総括・分担研究報告書, 149, 154, 2014年
日本語 - calcineurin阻害剤との関連が疑われた腕神経叢炎
廣谷 真, 上床 尚, 白井 慎一, 山下 健一郎, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 54, 1, 88, 88, 2014年01月
(一社)日本神経学会, 日本語 - 脊髄小脳変性症における歩行分析
矢部 一郎, 松島 理明, 白井 慎一, 佐藤 和則, 廣谷 真, 加納 崇裕, 佐々木 秀直, 臨床神経学, 54, 1, 89, 89, 2014年01月
(一社)日本神経学会, 日本語 - IgG4関連肥厚性硬膜炎の1例
加納 崇裕, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 矢口 裕章, 廣谷 真, 佐藤 和則, 矢部 一郎, 佐々木 秀直, 臨床神経学, 54, 1, 89, 89, 2014年01月
(一社)日本神経学会, 日本語 - 北海道における多系統萎縮症の疫学的実態:HoRC‐MSAプロジェクト
佐久嶋研, 西本尚樹, 松島理明, 野島正寛, 矢部一郎, 森満, 佐藤典宏, 佐々木秀直, 臨床神経学, 54, 1, 89, 89, 2014年01月01日
(一社)日本神経学会, 日本語 - 運動失調症の病態解明と治療法開発に関する研究 北海道における多系統萎縮症の疫学的実態:HoRC‐MSAプロジェクト
佐々木秀直, 佐久嶋研, 松島理明, 矢部一郎, 西本尚樹, 佐藤典宏, 野島正寛, 森満, 運動失調症の病態解明と治療法開発に関する研究 平成25年度 総括・分担研究報告書, 112, 115, 2014年
日本語 - 運動失調症の病態解明と治療法開発に関する研究 多系統萎縮症における症状評価スケールの比較(第2報)
佐々木秀直, 松島理明, 矢部一郎, 佐久嶋研, 大庭幸治, 水戸泰紀, 武井麻子, 保前英希, 津坂和文, 吉田一人, 丸尾泰則, 運動失調症の病態解明と治療法開発に関する研究 平成25年度 総括・分担研究報告書, 116, 119, 2014年
日本語 - Effectiveness of zonisamide in a patient with Parkinson's disease and various levodopa-induced psychotic symptoms.
Yabe, I, Ohta, M, Egashira, T, Sato, K, Kano, T, Hirotani, M, Kunieda, Y, Sasaki, H, Neurology Clin Neurosci, 2, 201, 203, 2014年, [査読有り]
英語 - 一過性の中枢神経障害を呈し左右非対称の大脳白質病変を認めたX連鎖性Charcot-Marie-Tooth病X型の1症例.
加納崇裕, 佐藤和則, 廣谷 真, 矢部一郎, 佐々木秀直, 末梢神経, 25, 415, 415, 2014年, [査読有り]
日本語 - 脊髄小脳変性症の治療に関する研究について
矢部一郎, 全国脊髄小脳変性症・多系統萎縮症 友の会ニュース2014, 2014年
日本語 - Neuromyelitis optica spectrum disorders accompanying subarachnoid hemorrhage and reversible white matter lesions.
Shirai, S, Mito, Y, Nojo, T, Yaguchi, H, Takahashi, T, Sato, K, Hirotani, M, Kano, T, Yabe, I. (corresponding, au, Sasaki, H, Neurology Clin Neurosci, 2, 1, 10, 12, 2014年, [査読有り]
A 48-year-old man was admitted to Tomakomai City Hospital, Tomakomai, Japan, because of intractable hiccups and nausea, and orthostatic hypotension.Brain magnetic resonance imaging findings showed a dorsal medullary lesion. Respiratory failure occurred, and he underwent tracheotomy and mechanical ventilationwhen magnetic resonance imaging showed subarachnoid hemorrhage in addition to enlarged medullary lesions. Serum anti-aquaporin-4 antibody was positiveand the cerebrospinal fluid was bloody. We diagnosed meuromyelitis optica spectrum disorders complicating subarachnoid hemorrhage. He was treated with a steroid. Although extensive white matter lesions occurred transiently, the patient was discharged from the hospital when he became able to walk with the use of the walker on the 52nd day. We suggest that the subarachnoid hemorrhage and transient white matter lesions were associated with vascular damage associated with the meuromyelitis optica spectrum disorders., Wiley, 英語 - パーキンソン症候群と多発ニューロパチーを呈し、POLG1遺伝子変異を認めた家族性進行性外眼筋麻痺の1家系
向井雅子, 菅谷慶三, 松原四郎, 蔡 華英, 矢部一郎, 佐々木秀直, 中野今治, 臨床神経学, 54, 5, 417, 422, 2014年, [査読有り]
Multiple mitochondrial DNA (mtDNA) deletions usually occur secondarily to a mutation in one of the enzymes involved in mtDNA maintenance, such as polymerase y, which is encoded by the nuclear polymerase γ1 gene (POLG1) and POLG2. Patients with multiple mtDNA deletion disorders show clinical heterogeneity of symptoms, in addition to usually seen progressive external ophthalmoplegia (PEO). We conducted clinical, histological and genetic analyses of two affected sisters in a family with the autosomal dominant inheritance pattern of PEO. A 73-year-old woman (patient 1) with congenital hypogonadism and PEO developed L-dopa responsive parkinsonism about the age of 60. Neurological examination revealed mild proximal muscle weakness and polyneuropathy too. Her 69-year-old sister (patient 2) also showed PEO, parkinsonism and polyneuropathy. Histopathological studies of biopsied muscle specimens from patient 1 revealed numerous ragged red fibers as well as fibers with increased succinate dehydrogenase activity and decreased cytochrome c oxidase activity. Multiple mtDNA deletions were detected, both by Southern blot and long-range PCR assays of total DNA from the biopsied muscle specimens. A systemic mutational analysis in both sisters revealed a heterozygous p.Y955C (c.2864A>
G) mutation in POLG1. This is the first Japanese family identified with this mutation. We reviewed cases with this mutation highlighting a wide phenotypic spectrum of this disorder., Societas Neurologica Japonica, 日本語 - 中枢神経原発血管炎5例の臨床像の検討
白井 慎一, 矢口 裕章, 上床 尚, 佐久嶋 研, 廣谷 真, 加納 崇裕, 矢部 一郎, 田中 伸哉, 佐々木 秀直, 臨床神経学, 53, 12, 1575, 1575, 2013年12月
(一社)日本神経学会, 日本語 - 神経Behcet病の臨床像および画像所見の検討
上床 尚, 佐久嶋 研, 加納 崇裕, 白井 慎一, 廣谷 真, 矢部 一郎, 佐々木 秀直, 臨床神経学, 53, 12, 1582, 1582, 2013年12月
(一社)日本神経学会, 日本語 - 多発性硬化症に対するFingolimod導入症例の検討
廣谷 真, 白井 慎一, 上床 尚, 矢口 裕章, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 53, 12, 1624, 1624, 2013年12月
(一社)日本神経学会, 日本語 - 多系統萎縮症におけるMMP-3、MMP-9、TIMP-1の検討(第二報)
佐々木 秀直, 松島 理明, 矢部 一郎, 浜 結香, 中村 雅一, 佐久嶋 研, 大庭 幸治, 丹治 邦和, 森 文秋, 若林 孝一, 柿田 明美, 高橋 均, 内海 潤, 臨床神経学, 53, 12, 1563, 1563, 2013年12月
(一社)日本神経学会, 日本語 - 多系統萎縮症における症状評価スケールの比較(中間報告)
松島 理明, 矢部 一郎, 佐久嶋 研, 大庭 幸治, 水戸 泰紀, 武井 麻子, 保前 英希, 津坂 和文, 吉田 一人, 丸尾 泰則, 佐々木 秀直, 臨床神経学, 53, 12, 1466, 1466, 2013年12月
(一社)日本神経学会, 日本語 - NOVEL GNE COMPOUND HETEROZYGOUS MUTATIONS IN A GNE MYOPATHY PATIENT
Huaying Cai, Ichiro Yabe, Shinichi Shirai, Hiroaki Nishimura, Makoto Hirotani, Takahiro Kano, Hideki Houzen, Kazuto Yoshida, Hidenao Sasaki, MUSCLE & NERVE, 48, 4, 594, 598, 2013年10月, [査読有り]
Introduction: Molecular studies have revealed that some patients with myopathies with rimmed vacuoles have pathogenic mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) and Z-band alternatively spliced PDZ motif-containing protein (ZASP) genes. Methods: We investigated a patient with distal myopathy with rimmed vacuoles by muscle biopsy and sequenced 6 candidate genes. Results: The patient carried GNE compound heterozygous missense mutations (p.V421A and p.N635K) and a ZASP variant (p.D673N). This patient also presented with distal weakness sparing the quadriceps muscles and had atypical results for Z-band-associated protein immunostaining. This finding indicates that the GNE mutations are pathogenic, and the diagnosis is compatible with GNE myopathy. Conclusions: By combining pathological studies and candidate gene screening, we identified a patient with GNE myopathy due to novel GNE compound heterozygous mutations., WILEY-BLACKWELL, 英語 - SCOPA-AUT日本語版の信頼性の検討
松島 理明, 矢部 一郎, 廣谷 真, 加納 崇裕, 佐々木 秀直, 神経治療学, 30, 5, 683, 683, 2013年09月
日本神経治療学会, 日本語 - 非HIV-PML 2症例の臨床経過
白井 慎一, 廣谷 真, 加納 崇裕, 南 尚哉, 中道 一生, 西條 政幸, 畑中 佳奈子, 志賀 哲, 矢部 一郎, 佐々木 秀直, NEUROINFECTION, 18, 2, 156, 156, 2013年09月
日本神経感染症学会, 日本語 - 終末期に上腸間膜動脈症候群を来した筋萎縮性側索硬化症の1例
白井 慎一, 上床 尚, 廣谷 真, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 53, 7, 584, 584, 2013年07月
(一社)日本神経学会, 日本語 - 両上肢の振戦を呈した抗MAG抗体陽性ニューロパチーの1例
上床 尚, 白井 慎一, 廣谷 真, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 53, 7, 588, 588, 2013年07月
(一社)日本神経学会, 日本語 - Berg Balance Scale日本語版の信頼性に関する検討
松島 理明, 矢部 一郎, 上床 尚, 白井 慎一, 廣谷 真, 佐々木 秀直, 臨床神経学, 53, 7, 585, 585, 2013年07月
(一社)日本神経学会, 日本語 - Comparison of different symptom assessment scales for multiple system atrophy
M. Matsushima, I. Yabe, K. Sakushima, K. Oba, Y. Mito, A. Takei, H. Houzen, K. Tsuzaka, K. Yoshida, Y. Maruo, H. Sasaki, MOVEMENT DISORDERS, 28, S119, S120, 2013年06月
WILEY-BLACKWELL, 英語, 研究発表ペーパー・要旨(国際会議) - 筋強直性ジストロフィーに大脳白質病変を伴うNMO spectrum disordersを合併した1例
上床 尚, 白井 慎一, 矢口 裕章, 廣谷 真, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 53, 4, 320, 320, 2013年04月
(一社)日本神経学会, 日本語 - 中枢神経に限局したアレルギー性肉芽腫性血管炎の1例
白井 慎一, 上床 尚, 廣谷 真, 佐久嶋 研, 加納 崇裕, 鴨嶋 雄大, 矢部 一郎, 田中 伸哉, 佐々木 秀直, 臨床神経学, 53, 4, 320, 320, 2013年04月
(一社)日本神経学会, 日本語 - 脊髄生検により脳・脊髄原発リンパ腫様肉芽腫症が疑われた1例
上床 尚, 白井 慎一, 松島 理明, 廣谷 真, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 石田 雄介, 西原 広史, 田中 伸哉, 笹森 徹, 北海道医学雑誌, 88, 2-3, 112, 112, 2013年04月
北海道医学会, 日本語 - 神経変性疾患に関する調査研究 DNAJB6遺伝子変異による肢帯型筋ジストロフィー(LGMD1D)に伴った前頭側頭型認知症の病理学的検討
佐々木秀直, 矢部一郎, 谷野美智枝, 矢口裕章, 瀧山晃弘, 蔡華英, 林由起子, 田中伸哉, 神経変性疾患に関する調査研究 平成24年度 総括・分担研究報告書, 137, 139, 2013年
日本語 - DNAJB6遺伝子変異によるLGMDに伴った前頭側頭型認知症の病理学的検討
矢部一郎, 谷野美智枝, 矢口裕章, 瀧山晃弘, 蔡華英, 林由起子, 田中伸哉, 佐々木秀直, 日本神経学会学術大会プログラム・抄録集, 54th, 418, 2013年
日本語 - 運動失調症の病態解明と治療法開発に関する研究 多系統萎縮症における症状評価スケールの比較(中間報告)
佐々木秀直, 松島理明, 矢部一郎, 佐久嶋研, 大庭幸治, 水戸泰紀, 武井麻子, 保前英希, 津坂和文, 吉田一人, 丸尾泰則, 運動失調症の病態解明と治療法開発に関する研究 平成24年度 総括・分担研究報告書, 58, 62, 2013年
日本語 - 神経変性疾患に関する調査研究 パーキンソン病における血中Neuregulin‐1 SMDFの検討
佐々木秀直, 浜結香, 矢部一郎, 加納崇裕, 廣谷真, 若林孝一, 大庭幸治, 岩倉百合子, 内海潤, 神経変性疾患に関する調査研究 平成24年度 総括・分担研究報告書, 84, 85, 2013年
日本語 - 多発性脳神経ニューロパチーを伴った混合性クリオグロブリン血症の1例.
加納崇裕, 上床 尚, 白井慎一, 松島理明, 西村洋昭, 矢口裕章, 廣谷 真, 中馬 誠, 矢部一郎, 佐々木秀直, 末梢神経, 24, 311, 311, 2013年, [査読有り]
日本語 - トキソプラズマ脳症 (cerebral toxoplasmosis)
矢部一郎, 佐々木秀直, HIV感染症 診断・治療・看護マニュアル 改訂第9版, 79, 82, 2013年
日本語 - 進行性多巣性白質脳症 (PML)
廣谷真, 矢部一郎, 佐々木秀直, HIV感染症 診断・治療・看護マニュアル 改訂第9版, 76, 78, 2013年
日本語 - Isolated granulomatous angiitis with eosinophilia in the central nervous system
Shirai, S, Yabe, I. (corresponding aut, Sakushima, K, Kanno, H, Uwatoko, H, Hirotani, M, Kano, T, Kamoshima, Y, Tanaka, S, Sasaki, H, Neurology Clin Neurosci, 1, 3, 119, 121, 2013年, [査読有り]
A 73-year-old man was admitted for epileptic seizures. Diffuse white matter lesions were observed in the bilateral occipital lobes, and the left occipital lobe biopsy showed eosinophils and giant cells in the walls of medium to small blood vessels, fibrinoid necrosis, occluded blood vessels, and glia degeneration. Allergic granulomatous angiitis was pathologically diagnosed. No eosinophilic granulomatosis with polyangiitis findings were observed in other organs, and isolated granulomatous angiitis with eosinophilia in the central nervous system was clinically diagnosed.Prednisolone combined with immunosuppressant therapies improved his symptoms markedly., Wiley, 英語 - 新規mtND6遺伝子変異によると考えられたstroke like episodeを呈するミトコンドリア病の1家系
高橋 育子, 佐藤 和則, 蔡 華英, 松島 理明, 矢部 一郎, 保前 英希, 佐々木 秀直, 臨床神経学, 52, 12, 1456, 1456, 2012年12月
(一社)日本神経学会, 日本語 - 多系統萎縮症における血中matrix metalloproteinase 3(MMP3)とtissue inhibitor of metalloproteinase 1(TIMP1)の意義
佐々木 秀直, 矢部 一郎, 佐久嶋 研, 浜 結香, 内海 潤, 高橋 育子, 佐藤 和則, 松島 理明, 臨床神経学, 52, 12, 1558, 1558, 2012年12月
(一社)日本神経学会, 日本語 - 内視鏡的膿瘍掻爬術を行い対麻痺の改善を得た脊髄硬膜外膿瘍の1例
白井 慎一, 高橋 育子, 廣谷 真, 加納 崇裕, 伊東 学, 矢部 一郎, 佐々木 秀直, NEUROINFECTION, 17, 2, 209, 209, 2012年10月
日本神経感染症学会, 日本語 - Association between falls and urinary disturbance in Parkinson's disease
K. Sakushima, S. Yamazaki, Y. Hayashino, S. Fukuhara, I. Yabe, H. Sasaki, EUROPEAN JOURNAL OF NEUROLOGY, 19, 324, 324, 2012年09月
WILEY-BLACKWELL, 英語, 研究発表ペーパー・要旨(国際会議) - 骨格筋症状を来した同種骨髄移植後慢性移植片対宿主病の2例
白井 慎一, 上床 尚, 西村 洋昭, 佐久嶋 研, 廣谷 真, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 神経治療学, 29, 5, 656, 656, 2012年09月
日本神経治療学会, 日本語 - 日本における脊髄空洞症全国疫学調査の報告
佐久嶋 研, 坪井 聡, 矢部 一郎, 飛騨 一利, 寺江 聡, 上原 里程, 中野 今治, 佐々木 秀直, 北海道醫學雜誌 = Acta medica Hokkaidonensia, 87, 4, 2012年08月01日
日本語 - イソニアジド髄注療法およびステロイドパルス療法が奏効した難治性結核性髄膜炎の2例
高橋育子, 山田萌美, 松島理明, 佐藤和則, 加納崇裕, 矢部一郎, 佐々木秀直, 臨床神経学, 52, 8, 551, 556, 2012年08月, [査読有り]
Tuberculous meningitis (TbM) is a neurological emergency condition that requires prompt initiation of treatment. The standard initial treatment for TbM is often insufficient for producing remission because the anti-tuberculosis agent may cause severe side effects, or vasculitis and hydrocephalus may induce an intractable state. Moreover, it is difficult to distinguish paradoxical expansion from its own deterioration. We treated 2 cases of adult TbM by using multidisciplinary therapy, including methyl prednisolone pulse and intrathecal isoniazid administration. Both cases had not been diagnosed as pulmonary or other tuberculosis, and cerebrospinal fluid (CSF) culture and polymerase chain reaction at approximately 1 week after hospitalization identified the cases as TbM. We administered the standard initial treatment recommended by the British Infection Society guidelines for adults, but both cases deteriorated and showed elevation of intracranial pressure. We indwelled a lumbar drainage for Case 1 and an Ommaya reservoir for Case 2. We removed CSF and administrated isoniazid regularly using each of the drainage devices, added streptomycin, and increased the steroid dose including addition of steroid pulse therapy. Both cases improved, and their neurological dysfunction did not persist. After the induction of an intractable state occurs due to TbM, we are likely to assume poor prognosis and neurological sequelae. However, our experience in these cases showed amelioration of the symptoms leading to the rehabilitation of these patients in society., 日本語 - Copy number loss of (Src homology 2 domain containing)-transforming protein 2 (SHC2) gene: Discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy
H. Sasaki, M. Emi, H. Iijima, N. Ito, H. Sato, I. Yabe, T. Kato, J. Utumi, K. Matsubara, MOVEMENT DISORDERS, 27, S194, S194, 2012年06月
WILEY-BLACKWELL, 英語, 研究発表ペーパー・要旨(国際会議) - 希釈倍率を変更することで抗AQP4抗体陽性を確認できたNMOSDsの1例
白井 慎一, 山田 萌美, 中野 史人, 中村 雅一, 廣谷 真, 加納 崇裕, 矢部 一郎, 高橋 利幸, 佐々木 秀直, 臨床神経学, 52, 6, 455, 455, 2012年06月
(一社)日本神経学会, 日本語 - 灰白質主体の脊髄長大病変を呈した全身性エリテマトーデスの1例
村松 憲, 山田 萌美, 白井 慎一, 中野 史人, 廣谷 真, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 近 祐次郎, 臨床神経学, 52, 6, 455, 455, 2012年06月
(一社)日本神経学会, 日本語 - 舌骨上筋群の緊張が主要因と考えられた頸部ジストニアの1例
山田 萌美, 加納 崇裕, 白井 慎一, 中野 史人, 廣谷 真, 松尾 雄一郎, 矢部 一郎, 北川 まゆみ, 佐々木 秀直, 臨床神経学, 52, 6, 457, 457, 2012年06月
(一社)日本神経学会, 日本語 - Pathological study of subacute autoimmune encephalopathy with anti-AQP4 antibodies in a pregnant woman
Hiroaki Yaguchi, Ichiro Yabe, Yoshiki Takai, Tatsuro Misu, Masaaki Matsushima, Toshiyuki Takahashi, Kanako C. Kubota, Sachiko Akimoto, Kazuo Fujihara, Hidenao Sasaki, MULTIPLE SCLEROSIS JOURNAL, 18, 5, 683, 687, 2012年05月, [査読有り]
A pregnant woman with extensive brain lesions on magnetic resonance imaging was tested positive for anti-aquaporin4 (AQP4) antibodies. An open biopsy of the left temporal lobe showed pathological changes in both the white and gray matter. Hematoxylin and eosin, Kluver-Barrera, and myelin basic protein staining results were indicative of demyelination in the white matter. Loss of AQP4 and glial fibrillary acidic protein was observed in the white matter, and this finding is consistent with the neuropathological findings of neuromyelitis optica spinal lesions. Moreover, loss of AQP4 was observed in the gray matter. The presence of anti-AQP4 antibodies, and the pathology, led to the diagnosis of anti-AQP4 antibodies-related encephalopathy., SAGE PUBLICATIONS LTD, 英語 - 長大な脊髄病変を伴いmultiple biopsiesにて組織診断された血管内リンパ腫の1例
白井慎一, 高橋育子, 加納崇裕, 佐藤和則, 久保田佳奈子, 矢部一郎, 村山繁雄, 佐々木秀直, 臨床神経学, 52, 5, 336, 343, 2012年05月, [査読有り]
A 45-year-old man was admitted to our hospital with flaccid paraplegia. Neurological examination at a local hospital, 2 months before admission to our hospital, showed sensory impairment of the right posterior surface of the thigh and a decreased Achilles tendon reflex. Spinal magnetic resonance imaging (MRI) showed a T2 weighted high-intensity area at the Th10-11 level that was more pronounced in the gray matter. The patient developed flaccid paraparesis and urinary retention. No improvement was observed after 2 rounds of methylprednisolone (mPSL) pulse therapy. Spinal cord biopsy showed demyelinated axons and myelinophagia without any tumorous lesion. Myelopathy exacerbated, and hence, plasma exchange was performed. However, this was ineffective. We suspected that myelopathy was caused by intravascular lymphoma (IVL) because of the presence of a low-grade fever, weight loss, and elevated serum soluble IL-2 receptor titers. Random biopsies, including skin, rectal, bone marrow, muscle, and renal biopsies, and splenectomy were performed to make a definite diagnosis of IVL myelopathy. Among these biopsies, the diagnosis of IVL myelopathy was confirmed from the renal specimen. The patient underwent chemotherapy at our hospital, and the IVL remitted. The results of this study confirm that sufficient systemic investigation by using tissue biopsy specimens should be performed in order to confirm the diagnosis of IVL myelopathy., 日本語 - 外転神経麻痺、視神経炎後に水痘帯状疱疹ウイルスによる急性網膜壊死を来たした1例
堀内 一宏, 竹内 朗子, 加納 崇裕, 廣谷 真, 南場 研一, 水内 一臣, 仁平 敦子, 矢部 一郎, 佐々木 秀直, 臨床神経学, 52, 3, 198, 198, 2012年03月
(一社)日本神経学会, 日本語 - 亜急性に小脳失調症状が進行し感染症との鑑別を要した橋本脳症の1例
松島 理明, 山田 萌美, 横山 徳幸, 丸尾 泰則, 竹内 朗子, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 52, 3, 201, 201, 2012年03月
(一社)日本神経学会, 日本語 - トラフ値,血中濃度下面積測定がシクロスポリンA至適用量設定に有用であった慢性炎症性脱髄性多発神経炎の2症例
竹内朗子, 竹内朗子, 白井慎一, 堀内一宏, 高橋育子, 松島理明, 廣谷真, 加納崇裕, 矢部一郎, 松本昭久, 松本昭久, 佐々木秀直, 臨床神経学, 52, 3, 172, 177, 2012年03月
Cyclosporine A (CYA) treatment has been reported to be probably useful for patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) that is resistant to conventional treatment. Although several studies have shown that appropriate area under the concentration-time curve (AUC) monitoring of CYA levels results in improved outcomes for refractory nephrotic syndrome patients, the importance of using AUC analysis for CIDP remains unclear. In this study, we measured both trough and AUC from 0 to 4 h (AUC 0-1b) levels of CYA in 2 patients with CIDP and compared the findings for the clinical parameters. On the basis of the CYA dosing recommendations for patients with nephrotic syndrome, we used a CYA concentration of 150 ng/m/ for the trough level and an AUC 0-1b value of 2,500 ng/(m/·h). Patient 1 showed a significant increase in grip strength and a prolonged remission period. Patient 2 showed improvement in the modified Rankin scale and manual muscle test (MMT) scores. Monitoring both AUC 0-1b and trough levels of CYA seems to be a better option than monitoring the trough level alone because it leads to improved estimation of the efficacy and safety of CYA treatment in the case of CIDP patients., 日本語 - 脳室内抗真菌薬投与が奏効したCryptococcus gattii による脳および肺クリプトコッカス症の1例
堀内一宏, 山田萌美, 白井慎一, 高橋育子, 加納崇裕, 金子幸弘, 秋沢宏次, 梅山隆, 宮崎義継, 矢部一郎, 佐々木秀直, 臨床神経学, 52, 3, 166, 171, 2012年03月
We report the case of a 34-year-old woman with cerebral and pulmonary cryptococcosis. After surgery for uterine cervical cancer, chest CT scan indicated a solitary tumor. Cryptococcosis was detected by transbronchial lung biopsy, and brain MRI showed multiple tumors. We diagnosed the patient with cerebral and pulmonary cryptococcosis. Oral and intravenous antifungal treatments were not effective, and a disturbance of consciousness appeared. We began intraventricular antifungal treatment, and the symptoms improved, with a reduction in the size of multiple lesions. However, the size of the brain lesions increased, and we diagnosed late deterioration of cryptococcosis and corticosteroid response. Because of the refractory clinical course, we examined the Cryptococcus strains from the surgical resected pulmonary lesion and identified Cryptococcus gattii (VG I type). C. gattii occurs predominantly in apparently healthy hosts. An intracranial C. gattii infection is associated with neurological complications and delayed therapeutic response. If cerebral cryptococcosis responds slowly and relatively poorly to antifungal therapy, C. gattii should be considered. Aggressive therapy, including intraventricular therapy and corticosteroids therapy for cryptococcoma, is required., 日本語 - 亜急性小脳失調症における自己抗体の検討
矢口裕章, 高橋秀尚, 奥村文彦, 加納崇裕, 加納崇裕, 竹内朗子, 堀内一宏, 廣谷真, 矢部一郎, 畠山鎮次, 佐々木秀直, 日本神経免疫学会学術集会抄録集, 24th, 90, 2012年
日本語 - 長大な脊髄病変を呈し抗アクアポリン4抗体陰性を確認した単純ヘルペスウイルス脊髄炎が強く疑われた1例
白井慎一, 佐久嶋 研, 水戸泰紀, 矢部一郎, 佐々木秀直, 神経治療学, 29, 4, 445, 449, 2012年, [査読有り]
症例は38歳男性。発熱後の四肢脱力と異常感覚を主訴に受診した。MRIで頸胸髄に連続する18椎体分のT2高信号変化を、髄液検査で細胞数・蛋白の上昇を認め、ステロイドパルス療法とacyclovirで治療開始した。血流抗アクアポリン4抗体は陰性であった。治療開始後、血清・髄液の単純ヘルペス抗体価の変動から、単純ヘルペス感染症の関与が考えられた。第56病日にリハビリ目的に転院、両下肢脱力は改善し、現在独歩可能となり職場復帰した。MRI上、脊髄病変は1ヵ月後には著明に縮小した。特異なMRI所見を呈したにも関わらず、治療に奏効し良好な経過をたどった長大脊髄炎であり、貴重な症例と考え報告する。(著者抄録), (一社)日本神経治療学会, 日本語 - 血管炎症候群に伴う末梢神経障害に対してシクロフォスファミド大量静注療法を行った3例
堀内 一宏, 白井 慎一, 竹内 朗子, 佐藤 和則, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 末梢神経, 22, 2, 266, 267, 2011年12月
日本末梢神経学会, 日本語 - 特定疾患臨床調査個人票を用いた脊髄小脳変性症6型の自然史調査
安井 建一, 矢部 一郎, 佐々木 秀直, 新井 公人, 金井 数明, 桑原 聡, 吉田 邦広, 伊藤 瑞規, 祖父江 元, 児矢野 繁, 小野寺 理, 西澤 正豊, 中島 健二, 臨床神経学, 51, 12, 1270, 1270, 2011年12月
(一社)日本神経学会, 日本語 - 脊髄空洞症の第二次全国調査
佐久嶋 研, 矢部 一郎, 佐々木 秀直, 坪井 聡, 上原 里程, 中野 今治, 臨床神経学, 51, 12, 1377, 1377, 2011年12月
(一社)日本神経学会, 日本語 - Cryptococcus gattiiによるクリプトコッカス症の1例
堀内一宏, 山田萌美, 加納崇裕, 金子幸弘, 秋本幸子, 秋沢宏次, 梅山隆, 大野秀明, 矢部一郎, 宮崎義継, 佐々木秀直, Neuroinfection, 16, 2, 206, 206, 2011年10月21日
日本神経感染症学会, 日本語 - けいれん発作を主症状とするリウマチ性髄膜脳炎の1例
矢口 裕章, 白井 慎一, 堀内 一宏, 加納 崇裕, 矢部 一郎, 佐々木 秀直, てんかん研究, 29, 2, 425, 425, 2011年09月
(一社)日本てんかん学会, 日本語 - 髄腔内baclofen療法が奏効した3症例
加納 崇裕, 白井 慎一, 大原 宰, 竹内 朗子, 堀内 一宏, 秋本 幸子, 矢部 一郎, 佐々木 秀直, 青山 剛, 宝金 清博, 神経治療学, 28, 5, 542, 542, 2011年09月
日本神経治療学会, 日本語 - 中枢神経intravascular lymphomatosisの2例
白井 慎一, 高橋 育子, 松島 理明, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 神経治療学, 28, 5, 577, 577, 2011年09月
日本神経治療学会, 日本語 - Adult Leigh Disease Without Failure to Thrive
Ken Sakushima, Sachiko Tsuji-Akimoto, Masaaki Niino, Shinji Saitoh, Ichiro Yabe, Hidenao Sasaki, NEUROLOGIST, 17, 4, 222, 227, 2011年07月, [査読有り]
Introduction: Most Leigh disease (LD) patients die before reaching adulthood, but there are reports of "adult LD." The clinical features of adult LD were quite different from those in infant or childhood cases. Here, we describe a normally developed patient with adult LD, who presented with spastic paraplegia that was followed several years later by acute encephalopathy. We also conducted a systemic literature search on adult LD and integrated its various manifestations to arrive at a diagnostic procedure for adult LD.
Case Report: A 26-year-old woman presented with acute encephalopathy after spastic paraplegia. On her first admission, she exhibited bilateral basal ganglia lesion on magnetic resonance images and normal serum lactate levels. On second admission, she had acute encephalopathy with lactic acidosis and bilateral basal ganglia and brainstem lesions. A muscle biopsy revealed cytochrome c oxidase deficiency, and a diagnosis of adult LD was made. Despite treatment in the intensive care unit, she died 9 days after admission.
Conclusions: A review of the literature describing adult LD revealed that developmental delay, COX deficiency, serum lactate elevation, and basal ganglia lesions occurred less frequently than they did in children with LD. Cranial nerve disturbance, pyramidal signs, and cerebellar dysfunction were the primary symptoms in adult LD. Thus, the many differences between childhood and adult LD may be helpful for diagnosing adult LD., LIPPINCOTT WILLIAMS & WILKINS, 英語 - シクロスポリンAが著効した慢性炎症性脱髄性多発神経炎(CIDP)の1例
竹内 朗子, 大原 宰, 白井 慎一, 高橋 育子, 堀内 一宏, 廣谷 真, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 51, 6, 452, 452, 2011年06月
(一社)日本神経学会, 日本語 - 脊髄血管内リンパ腫の1例
白井 慎一, 竹内 朗子, 大原 宰, 高橋 育子, 加納 崇裕, 矢部 一郎, 久保田 佳奈子, 佐々木 秀直, 臨床神経学, 51, 6, 455, 455, 2011年06月
(一社)日本神経学会, 日本語 - 失語で発症した比較的高齢のMELASの1例
藤丸 敦樹, 松島 理明, 上床 尚, 高橋 育子, 保前 英希, 中村 雅一, 佐藤 和則, 矢部 一郎, 臨床神経学, 51, 6, 455, 455, 2011年06月
(一社)日本神経学会, 日本語 - Idiopathic Hypoglossal Nerve Laceration Detected by High-Resolution Three-Dimensional Constructive Interference in Steady State Magnetic Resonance Imaging
Ken Sakushima, Satoshi Terae, Sachiko Tsuji-Akimoto, Masaaki Niino, Ichiro Yabe, Hidenao Sasaki, JOURNAL OF NEUROIMAGING, 21, 2, e177, e179, 2011年04月, [査読有り]
A 55-year-old man presented with acute onset dysarthria caused by left hypoglossal palsy. He had neither surgery nor injury prior to the onset of his symptoms. We detected no abnormalities with conventional magnetic resonance imaging (MRI) except for a slight gadolinium enhancement of the left hypoglossal nerve. Three-dimensional constructive interference in steady state MRI (CISS MRI) showed curling and thickening of the left hypoglossal nerve and fluid accumulation in the hypoglossal nerve canal. A systemic survey found no malignancies. After 8 months, sustained left hypoglossal palsy and no change in the MRI led to the diagnosis of idiopathic hypoglossal nerve laceration with evulsion. In such patients, the cause of the defect is not always apparent and 3-dimensional CISS MRI may resolve this issue., WILEY-BLACKWELL, 英語 - MRIにて中枢神経病変の改善を認めたWilson病の1例
大原 宰, 高橋 育子, 山田 萌美, 松島 理明, 廣谷 真, 秋本 幸子, 矢部 一郎, 佐々木 秀直, 臨床神経学, 51, 3, 226, 226, 2011年03月
(一社)日本神経学会, 日本語 - HLA B51陽性を示した神経Sweet病の1例
竹内 朗子, 松島 理明, 山田 萌美, 加納 崇裕, 佐藤 和則, 秋本 幸子, 矢部 一郎, 佐々木 秀直, 吉川 桃子, 筬井 泰江, 山下 利春, 野口 寛子, 臨床神経学, 51, 3, 227, 227, 2011年03月
(一社)日本神経学会, 日本語 - 転移性髄膜癌腫症との鑑別が困難であったprimary diffuse leptomeningeal gliomatosisの1例
中野史人, 矢部一郎, 秋本幸子, 石津明洋, 田中伸哉, 笠原正典, 佐々木秀直, 臨床神経学, 51, 3, 197, 202, 2011年03月
A 65 year old woman presented with progressive gait disturbance. She complained of appetite loss for 3 months. Her gait gradually became unsteady, and she was admitted to our hospital. On admission, slow mentation, bathyhypesthesia in left upper and both lower extremites, positive Romberg sign and wide-based gait were observed. Gd-enhanced MRI revealed mass lesions in the left temporal fossa and the cervical spinal canal with focal meningeal enhancement. Besides lesions in the central nervous system (CNS), systematic examination detected no additional malignancy. Repeated cytology of the cerebrospinal fluid was negative. After admission, her consciousness became reduced gradually. At 2 months after admission, she died of central respiratory failure. On autopsy, diffuse extension of the tumor cells was observed on the surface of CNS, and the mass lesions observed by MRI were extra-parenchymal. On microscopic examination, the mass was consisted of GFAP positive malignant cells, and included perivascular pseudorosette, pseudopalisading necrosis and many mitotic cells. The diagnosis of the case was made as primary diffuse leptomeningeal gliomatosis (PDLG). PDLG is a rare disorder that is difficult to diagnose by CSF cytology. The progress of PDLG is rapid, and appropriate treatment is rarely taken. However, the combination of temozolomide and the radiotherapy performed for a glioblastoma has been reported as a possible treatment for PDLG. We emphasize that, in possible cases of PDLG, a biopsy should be performed in the early stages, especially in cases showing features similar to those of metastatic meningeal carcinomatosis and have no malignant tumors by whole body examination., 日本語 - 腎周囲腔原発形質細胞腫の1例
森田亮, 神島保, 白土博樹, 寺江聡, 久保田佳奈子, 中野史人, 矢部一郎, 丸山覚, 三村理恵, Jpn J Radiol, 29, Supplement 1, 3, 2011年01月25日
日本語 - 拡散テンソルによる難治性うつ病における大脳白質障害の検討
Tha Khin Khin, 寺江 聡, 藤間 憲幸, 財津 有里, 白土 博樹, 井上 猛, 中川 伸, 小山 司, 宮本 環, 相馬 広幸, 矢部 一郎, Japanese Journal of Radiology, 29, Suppl.I, 4, 4, 2011年01月
(公社)日本医学放射線学会, 日本語 - rt−PA療法で良好な転帰を辿った心原性脳塞栓の1未成年女性例
白井慎一, 水戸泰紀, 小松博史, 矢部一郎, 佐々木秀直, 脳卒中, 33, 4, 408-412 (J-STAGE), 2011年
日本語 - 画像的に多巣性の進展経過を示した大脳膠腫症の1例
佐久嶋研, 山田萌美, 久保田佳奈子, 澤村豊, 矢部一郎, 佐々木秀直, 臨床神経学, 51, 2, 145, 148, 2011年
A 77-year-old woman with cognitive impairment and multifocal progressive lesions on brain MRI was admitted to our hospital. Analysis of blood and cerebrospinal fluid showed no evidence of infection, autoimmune disease, or metabolic abnormalities. Histological examination of biopsied tissue from a lesion in the right frontal lobe revealed an abnormally increased glial cell density with enlarged nuclei and a high MIB-1 index. These pathological findings coupled with her progressive clinical history indicated a diagnosis of gliomatosis cerebri. General characteristics of gliomatosis cerebri include diffuse infiltrative lesions in neuroimaging with or without mass effect. However, the present case showed unusual multifocal manifestations in brain MRI. Therefore, histopathological examination must be taken into account for a proper diagnosis., Societas Neurologica Japonica, 日本語 - トキソプラズマ脳症 (cerebral toxoplasmosis).
矢部一郎, 佐々木秀直, HIV感染症 診断・治療・看護マニュアル 改訂第8版, 83, 86, 2011年
日本語 - 進行性多巣性白質脳症 (PML).
廣谷 真, 矢部一郎, 佐々木秀直, HIV感染症 診断・治療・看護マニュアル 改訂第8版, 81, 82, 2011年
日本語 - SCA12遺伝子座に連鎖しているがPPP2R2Bの変異を認めないADCAの1家系
佐藤 和則, 矢部 一郎, 相馬 広幸, 佐々木 秀直, 福田 陽子, 三井 純, 中原 康雄, 辻 省次, 臨床神経学, 50, 12, 1260, 1260, 2010年12月
(一社)日本神経学会, 日本語 - 免疫グロブリン大量静注療法とシクロスポリンの併用が奏効した慢性炎症性脱髄性多発神経炎の1例
松島理明, 秋本幸子, 松本昭久, 松本昭久, 矢部一郎, 田島康敬, 佐々木秀直, 末梢神経, 21, 2, 283-284, 2010年12月
日本語 - 末梢神経障害を呈したミトコンドリア病の1例
八島 萌美, 松島 理明, 矢口 裕章, 秋本 幸子, 新野 正明, 矢部 一郎, 佐々木 秀直, 臨床神経学, 50, 8, 602, 602, 2010年08月
(一社)日本神経学会, 日本語 - 細菌性水膜炎にpolyradiculoneuritis合併が疑われた1例
高橋 育子, 八島 萌美, 松島 理明, 秋本 幸子, 新野 正明, 矢部 一郎, 佐々木 秀直, 臨床神経学, 50, 8, 604, 604, 2010年08月
(一社)日本神経学会, 日本語 - Extramedullary plasmacytoma involving perirenal space accompanied by extramedullary hematopoiesis and amyloid deposition
Rie Mimura, Tamotsu Kamishima, Kanako C. Kubota, Fumihito Nakano, Ichiro Yabe, Hidenao Sasaki, Satoru Maruyama, Nobuo Shinohara, Ardene A. Harris, Hironori Haga, Hiroki Shirato, Satoshi Terae, JAPANESE JOURNAL OF RADIOLOGY, 28, 4, 309, 313, 2010年05月, [査読有り]
A 62-year-old man was referred to us after unsuccessful treatment of bilateral weakness in his upper and lower extremities with paresthesia in both lower extremities. Computed tomography (CT) revealed soft tissue masses in the left kidney along the capsule and paraaortic region that were of relatively low attenuation with accompanying granular calcifications. Pathological diagnosis of the biopsy specimen was extramedullary plasmacytoma accompanied by extramedullary hematopoiesis and amyloid deposition. Although the CT findings correlated well with the pathological results, the case was extremely atypical for extramedullary plasmacytoma in respect to location and the accompaniment with extramedullary hematopoiesis., SPRINGER, 英語 - 頸椎症性脊髄症術後に診断された脊髄サルコイドーシスの1例
高橋育子, 相馬広幸, 佐久嶋研, 秋本幸子, 新野正明, 矢部一郎, 佐々木秀直, 神経治療学, 27, 2, 209-213, 2010年03月25日
日本語 - 頸髄サルコイドーシスにおける18F FDG-PETの有用性
八島 萌美, 中野 史人, 大寺 慶, 松島 理明, 田代 淳, 秋本 幸子, 新野 正明, 矢部 一郎, 佐々木 秀直, 臨床神経学, 50, 2, 126, 126, 2010年02月
(一社)日本神経学会, 日本語 - 下腿筋肥大を伴った脊髄性筋萎縮症IV型の1例
松島 理明, 堀内 一宏, 中野 史人, 秋本 幸子, 新野 正明, 矢部 一郎, 佐々木 秀直, 臨床神経学, 50, 2, 127, 127, 2010年02月
(一社)日本神経学会, 日本語 - 運動失調症の病態解明と治療法開発に関する研究 SCA12遺伝子座に連鎖しているがPPP2R2B遺伝子変異を認めない優性遺伝性脊髄小脳変性症の1家系
佐々木秀直, 佐藤和則, 相馬広幸, 矢部一郎, 福田陽子, 三井純, 中原康雄, 辻省次, 運動失調症の病態解明と治療法開発に関する研究班 平成21年度 総括・分担研究報告書, 21, 22, 2010年
日本語 - 運動失調症の病態解明と治療法開発に関する研究 ポリグルタミン病における筋エネルギー代謝測定の試み
佐々木秀直, 矢部一郎, 佐藤和則, 相馬広幸, 寺江聡, 沖田孝一, 運動失調症の病態解明と治療法開発に関する研究班 平成21年度 総括・分担研究報告書, 54-56, 2010年
日本語 - ポリグルタミン病の筋エネルギー代謝
矢部一郎, 佐藤和則, 相馬広幸, THA Khin Khin, 寺江聡, 沖田孝一, 佐々木秀直, 日本神経学会総会プログラム・抄録集, 51st, 219, 2010年
日本語 - 脊髄空洞症の発症素因に関する研究—生体試料等の収集に関する研究—
矢部一郎, 飛騨一利, 寺江聡, 横断的基盤研究分野 生体試料等の収集に関する研究−脊髄空洞症の発症素因に関する研究 平成21年度 総括・分担研究報告書, 11-12, 2010年
日本語 - 特異的画像所見を示し IgG avidity index と nested PCR にて診断したトキソプラズマ脳症の1例
堀内 一宏, 矢部 一郎, 田島 康敬, 近藤 健, 滝沢 慶彦, 山田 秀人, 佐々木 秀直, 臨床神経学, 50, 4, 252, 256, 2010年
We report a 60-year-old woman with toxoplasma encephalopathy. She was being treated with prednisolone and methotrexate for rheumatoid arthritis that was diagnosed at the age of 40. In a preoperative examination of her left fifth finger ganglion, pericardial effusions, cardiomegaly, and a right atrial mass were detected. In addition, brain MRI showed nodular shadows in the right thalamus, bilateral globus pallidus, and left dentate nucleus of the cerebellum. Ti and T2 weighted images showed high intensities within those shadows
however, a Ti gadolinium enhancement image showed no contrast enhancement in the lesions. There were no positive neurological findings. Examination of the cerebrospinal fluid and cultivation tests showed nothing particular. The right atrial mass was subsequently diagnosed as malignant lymphoma and treated with radiation therapy. Toxoplasma gondii antibody titers were increased in both serum and cerebrospinal fluid. Based on IgG avidity index and nested PCR, we diagnosed toxoplasma encephalopathy with chronic T. gondii infection. The T. gondii gene product was also detected in cerebrospinal fluid by nested PCR. We consider that IgG avidity index and nested PCR were useful for the diagnosis of toxoplasma encephalopathy., 日本神経学会, 日本語 - パーキンソン病
矢部 一郎, ケア, 2010年5月号, 50, 53, 2010年
日本語 - MRI and pathological findings of rheumatoid meningitis
Masaaki Matsushima, Hiroaki Yaguchi, Masaaki Niino, Sachiko Akimoto-Tsuji, Ichiro Yabe, Katsunori Onishi, Hidenao Sasaki, JOURNAL OF CLINICAL NEUROSCIENCE, 17, 1, 129, 132, 2010年01月, [査読有り]
Rheumatoid meningitis (RM) is one of the most severe complications of rheumatoid arthritis. The mortality rate of RM is relatively high and diagnosis can be difficult. We present an 80-year-old woman who was diagnosed with microscopic findings of RM after analysis of biopsy specimens taken from a brain lesion. MRI scanning revealed meningeal enhancement in the brain, and the pathological findings were those of meningeal lymphocytic infiltration, vasculitis and rheumatoid nodules. RM is a treatable disease and in this patient RM was diagnosed on the basis of biopsy findings. (C) 2009 Elsevier Ltd. All rights reserved., ELSEVIER SCI LTD, 英語 - Weakness and sensory disturbance of the left extremities
Ken Sakushima, Masaaki Niino, Ichiro Yabe, Sachiko Akimoto-Tsuji, Hidenao Sasaki, JOURNAL OF CLINICAL NEUROSCIENCE, 16, 12, 1711, 1711, 2009年12月
ELSEVIER SCI LTD, 英語, その他 - 脊髄小脳失調症6型の多施設共同自然史調査
安井 建一, 矢部 一郎, 佐々木 秀直, 吉田 邦広, 金井 数明, 服部 孝道, 新井 公人, 伊藤 瑞規, 祖父江 元, 児矢野 繁, 小野寺 理, 西澤 正豊, 中島 健二, 臨床神経学, 49, 12, 1114, 1114, 2009年12月
(一社)日本神経学会, 日本語 - Weakness and sensory disturbance of the left extremities
Ken Sakushima, Masaaki Niino, Ichiro Yabe, Sachiko Akimoto-Tsuji, Hidenao Sasaki, JOURNAL OF CLINICAL NEUROSCIENCE, 16, 12, 1608, 1608, 2009年12月, [査読有り]
ELSEVIER SCI LTD, 英語, その他 - C-11-FMZ PET study in ALS
I. Yabe, T. Shiga, S. Akimoto, S. Hamada, M. Otsuki, Y. Kuge, N. Tamaki, H. Sasaki, JOURNAL OF THE NEUROLOGICAL SCIENCES, 285, S183, S183, 2009年10月
ELSEVIER SCIENCE BV, 英語, 研究発表ペーパー・要旨(国際会議) - Progressive Foix-Chavaney-Marie syndrome: a clinico-pathological investigation
M. Otsuki, Y. Nakagawa, F. Mori, H. Tobioka, H. Yoshida, Y. Tatezawa, Y. Tanigawa, I. Takahashi, K. Sakushima, I. Yabe, H. Sasaki, K. Wakabayashi, JOURNAL OF NEUROLOGY, 256, S184, S185, 2009年06月
DR DIETRICH STEINKOPFF VERLAG, 英語, 研究発表ペーパー・要旨(国際会議) - 視神経障害と大腸潰瘍を合併したMPO-ANCA陽性肥厚性硬膜炎の1例
松島 理明, 松本 真知子, 堀内 一宏, 中野 史人, 田代 淳, 新野 正明, 矢部 一郎, 新田 卓也, 大友 耕太郎, 山田 洋介, 佐々木 秀直, 臨床神経学, 49, 5, 313, 313, 2009年05月
(一社)日本神経学会, 日本語 - IgG-κ型M蛋白産生髄外形質細胞腫に伴う末梢神経障害の1例
中野 史人, 矢部 一郎, 松島 理明, 堀内 一宏, 矢口 裕章, 加納 崇裕, 秋本 幸子, 新野 正明, 佐々木 秀直, 丸山 覚, 橋本 晃佳, 神経治療学, 26, 3, 310, 310, 2009年05月
日本神経治療学会, 日本語 - Teaching NeuroImages: Lumbar nerve roots metastasis from prostatic adenocarcinoma
I. Yabe, H. Nishimura, S. Tsuji-Akimoto, M. Niino, H. Sasaki, NEUROLOGY, 72, 20, E103, E104, 2009年05月, [査読有り]
LIPPINCOTT WILLIAMS & WILKINS, 英語, その他 - 6.2つのミトコンドリアDNA変異(T8356CとA3243G)を認めたミトコンドリア病の1家系(一般演題,第2回日本てんかん学会北海道地方会)
中村 雅一, 矢部 一郎, 須藤 章, 細木 華奈, 斉藤 伸治, 佐々木 秀直, てんかん研究, 26, 3, 476, 477, 2009年01月31日
日本てんかん学会, 日本語 - 運動失調症の病態解明と治療法開発に関する研究 運動失調症に関する調査研究 ポリグルタミン病における筋エネルギー代謝測定の試み
佐々木秀直, 矢部一郎, 佐藤和則, 相馬広幸, 寺江聡, 沖田孝一, 運動失調症の病態解明と治療法開発に関する研究班 平成20年度 総括・分担研究報告書, 8-10, 2009年
日本語 - 拡散テンソル画像法における多系統萎縮症のテント上白質病変の検出
タ キンキン, 寺江聡, 矢部一郎, 宮本環, 相馬広幸, 財津有里, 藤間憲幸, 佐々木秀直, 白土博樹, 日本神経放射線学会プログラム・抄録集, 38th, 142, 2009年
日本語 - トキソプラズマ脳症 (cerebral toxoplasmosis).
田代 淳, 矢部一郎, 佐々木秀直, HIV感染症 診断・治療・看護マニュアル 改訂第7版, 77, 79, 2009年
日本語 - 進行性多巣性白質脳症 (PML).
緒方昭彦, 矢部一郎, 佐々木秀直, HIV感染症 診断・治療・看護マニュアル 改訂第7版, 75, 76, 2009年
日本語 - HIV-1脳症.
緒方昭彦, 矢部一郎, 佐々木秀直, HIV感染症 診断・治療・看護マニュアル 改訂第7版, 72, 74, 2009年
日本語 - 特発性パーキンソニズムにおけるヘリコバクター感染関与仮説—現状と今後の展開予測.
矢部一郎, 佐々木秀直, Helicobacter日本語抄訳版, 10, 2, 4, 2009年
日本語 - Aseptic Meningitis with Relapsing Polychondritis Mimicking Bacterial Meningitis
Hiroaki Yaguchi, Kazufumi Tsuzaka, Masaaki Niino, Ichiro Yabe, Hidenao Sasaki, INTERNAL MEDICINE, 48, 20, 1841, 1844, 2009年, [査読有り]
Relapsing polychondritis (RP) is a rare multisystem autoimmune disease. Though meningitis in RP is not common, some cases with cerebrospinal fluid (CSF) pleocytosis of the lymphocyte cells have been reported. Of the 18 previously reported cases, two cases demonstrated pleocytosis of polymorphonuclear leukocytes (PMN) in the CSF. In addition, cases with a decreased glucose level in the CSF were also seen. Our case also demonstrated pleocytosis of PMN in CSF mimicking bacterial meningitis. In the clinical field, as it is not possible to obtain a culture of CSF on admission day, the glucose level and cellular fraction are considered important. Therefore, meningitis in RP should be considered as a differential diagnosis of bacterial meningitis., JAPAN SOC INTERNAL MEDICINE, 英語 - Unusual Retinal Phenotypes in an SCA7 Family
Hirofumi Inaba, Ichiro Yabe, Moemi Yashima, Hiroyuki Soma, Yasushi Nakamura, Hideki Houzen, Hidenao Sasaki, INTERNAL MEDICINE, 48, 16, 1461, 1464, 2009年, [査読有り]
We report the cases of a father and his son with spinocerebellar ataxia type 7 (SCA7), a disorder rarely reported in Japan. The father had noticed dysarthria at age 38, and gait instability at age 46. Visual disturbance was noted 3 years later. Neurological examination at age 54 revealed visual disturbance, dysarthria, and cerebellar ataxia in all four extremities and the trunk. Cranial MRI showed moderate atrophy of the brain stem and cerebellar hemispheres. However, no retinal degeneration was found. The son was 16 years old at our first examination. Since age 6, his visual acuity began to decrease; at age 10, he noticed clumsiness in his hands. Six years later he began to experience gait instability. Neurological examination revealed visual disturbance and cerebellar ataxia. He was diagnosed with SCA7 by genetic analysis. His ophthalmologic examination showed retinal degeneration without pigmented spots, which is different from those of retinal phenotypes previously described in SCA7., JAPAN SOC INTERNAL MEDICINE, 英語 - Chronic inflammatory demyelinating polyneuropathy after treatment with Interferon-α.
Hirotani, M, Nakano, H, Ura, S, Yoshida, K, Niino, M, Yabe, I, Sasaki, H, Intern Med, 48, 5, 373, 375, 2009年, [査読有り]
Interferon-alpha (IFN-alpha), though widely used for the treatment of chronic viral hepatitis, may be associated with the occurrence of autoimmune disorders. In this case report, a patient with chronic hepatitis C virus infection had chronic inflammatory demyelinating polyneuropathy (CIDP) after the initiation of IFN-alpha therapy. The neurological symptoms of this patient continued to progress even though the treatment with IFN-alpha had been withdrawn; the symptoms improved dramatically following treatment with intravenous immunoglobulin. This case may therefore provide an important clue to understand the immune mechanism of CIDP and IFN-alpha., JAPAN SOC INTERNAL MEDICINE, 英語 - 全身性身体疾患出現後に寛解傾向を示したてんかん患者2例の臨床経験
須藤和昌, 田島康敬, 松本昭久, 矢部一郎, 田代邦雄, 臨床脳波, 51, 1, 68, 71, 2009年, [査読有り]
永井書店, 日本語 - 脊髄小脳失調症6型の自然史 多施設共同後ろ向き調査
安井 建一, 矢部 一郎, 佐々木 秀直, 新井 公人, 金井 数明, 服部 孝道, 吉田 邦広, 磯崎 英治, 小野寺 理, 西澤 正豊, 中島 健二, 臨床神経学, 48, 12, 1088, 1088, 2008年12月
(一社)日本神経学会, 日本語 - Transient subacute cerebellar ataxia in a patient with Lambert-Eaton myasthenic syndrome after intracranial aneurysm surgery
Masakazu Nakamura, Ichiro Yabe, Kazunori Sato, Fumihito Nakano, Hiroaki Yaguchi, Sachiko Tsuji, Hirokazu Shiraishi, Makoto Yoneda, Keiko Tanaka, Masakatsu Motomura, Hidenao Sasaki, CLINICAL NEUROLOGY AND NEUROSURGERY, 110, 5, 480, 483, 2008年05月, [査読有り]
Several reports have presented patients with subacute cerebellar ataxia (CA) and Lambert-Eaton myasthenic syndrome (LEMS). Some clinical features of those patients have been described in the previous reports, manifestation of subacute CA prior to LEMS or a co-existence of both diseases, a high incidence of malignancy, and less efficacy of the treatment for subacute CA compared with that for LEMS. Cerebellar ataxia in some patients with LEMS has been suggested to be caused by antibodies to P/Q-type voltage-gated calcium channels (VGCCs). We report herein a patient with subacute CA and LEMS. Cerebellar ataxia appeared 15 months after the occurrence of LEMS, and the onset of CA was thought to be due to serum anti-P/Q-type VGCC antibodies. The clinical course of this patient was atypical, as follows: (1) LEMS preceded subacute CA, which developed after intracranial aneurysm surgery, (2) no malignancy was detected when both diseases co-existed, (3) symptoms of LEMS did not progress with the onset of CA, and (4) there was a definite improvement in symptoms of CA and (123)I-IMP SPECT imaging findings after steroid administration. In addition, it is remarkable that LEMS became aggravated in electrophysiologic examinations, in contrast to subacute CA. We suggest that these atypical features of subacute CA and the changes in LEMS may be associated with a balance between the amount of serum anti-P/Q-type VGCC antibodies and the susceptibility of the cerebellum and presynaptic nerve terminals to the antibodies. More cases are needed to investigate the mechanisms involved. The subacute CA and LEMS in this patient have remained comparatively silent after the withdrawal of steroids, and we are continuing to observe her condition. (c) 2008 Elsevier B.V. All rights reserved., ELSEVIER SCIENCE BV, 英語 - 運動失調症に関する調査研究 病態の進行抑制治療に関する臨床研究および基礎研究 I.Scale for the Assessment and Rating of Ataxia(SARA)の有用性,II.ポリグルタミン病における筋エネルギー代謝測定の試み III.MSA疾患感受性候補遺伝子の関連解析
佐々木秀直, 佐藤和則, 相馬広幸, 矢部一郎, 寺江聡, 沖田孝一, 安井建一, 中島健二, 伊藤瑞規, 祖父江元, 下畑享良, 小野寺理, 西澤正豊, 運動失調症に関する調査研究 平成17−19年度総合 総括・分担研究報告書, 20-22, 2008年
日本語 - 運動失調症に関する調査研究班 ポリグルタミン病における筋エネルギー代謝測定の試み〜第3報〜
佐々木秀直, 矢部一郎, 寺江聡, 沖田孝一, 運動失調症に関する調査研究班 平成19年度 総括・分担研究報告書, 39-41, 2008年
日本語 - 健診にて偶然発見された頭痛を伴わない特発性頭蓋内圧亢進症の1例
佐久嶋研, 辻幸子, 新野正明, 矢部一郎, 佐々木秀直, 臨床神経学, 48, 6, 430, 432, 2008年, [査読有り]
日本語 - 10年余りfollowした若年ミオクロニーてんかん例の診断と治療に関する1経験
須藤和昌, 田島康敬, 松本昭久, 矢部一郎, 佐々木秀直, てんかんをめぐって, 27, 15, 19, 2008年, [査読有り]
日本語 - 新規のSPG4遺伝子変異を認めた家族歴のない純粋型遺伝性痙性対麻痺例の臨床像
町野由佳, 小久保康昌, 相馬広幸, 矢部一郎, 佐々木秀直, 葛原茂樹, BRAIN AND NERVE, 60, 187, 189, 2008年, [査読有り] - Scale for the assessment and rating of ataxia(SARA)の有用性の検討
松島 理明, 相馬 広幸, 矢部 一郎, 佐々木 秀直, 臨床神経学, 47, 12, 1024, 1024, 2007年12月
(一社)日本神経学会, 日本語 - O2-03 全身的性身体負荷を契機として寛解傾向を示したてんかん患者2例の臨床経験(経過・予後1,一般演題(口演),てんかん制圧:新たなステージに向けて,第41回日本てんかん学会)
須藤 和昌, 田島 康敬, 松本 昭久, 矢部 一郎, 佐々木 秀直, 田代 邦雄, てんかん研究, 25, 3, 288, 288, 2007年09月30日
日本てんかん学会, 日本語 - 非担癌性Lambert-Eaton筋無力症候群の経過中に小脳性運動失調を合併した1例
中村 雅一, 中野 史人, 松島 理明, 矢口 裕章, 佐藤 和則, 辻 幸子, 新野 正明, 矢部 一郎, 佐々木 秀直, 臨床神経学, 47, 6, 373, 373, 2007年06月
(一社)日本神経学会, 日本語 - うっ血乳頭にて発見された頭痛を伴わない特発性頭蓋内圧亢進症の1例
佐久嶋 研, 中村 雅一, 松島 理明, 大寺 慶, 辻 幸子, 新野 正明, 矢部 一郎, 佐々木 秀直, 齋藤 理幸, 臨床神経学, 47, 6, 373, 373, 2007年06月
(一社)日本神経学会, 日本語 - ウイルス性肝炎を合併した多発筋炎/皮膚筋炎の治療法の検討
佐藤 和則, 大寺 慶, 松島 理明, 中村 雅一, 辻 幸子, 新野 正明, 矢部 一郎, 佐々木 秀直, 神経治療学, 24, 3, 340, 340, 2007年05月
日本神経治療学会, 日本語 - 神経疾患における静脈血栓塞栓症の発症リスクに関する検討
廣谷 真, 中村 雅一, 矢口 裕章, 松島 理明, 辻 幸子, 新野 正明, 矢部 一郎, 佐々木 秀直, 神経治療学, 24, 3, 352, 352, 2007年05月
日本神経治療学会, 日本語 - 生検にて診断しステロイド大量療法にて軽快したRheumatoid meningitisの一例
矢口 裕章, 松島 理明, 佐久嶋 研, 中村 雅一, 辻 幸子, 新野 正明, 矢部 一郎, 佐々木 秀直, 神経免疫学, 15, 1, 127, 127, 2007年04月
日本神経免疫学会, 日本語 - 難治性てんかんの1例
矢口 裕章, 加納 崇裕, 高橋 育子, 松島 理明, 中野 史人, 辻 幸子, 矢部 一郎, 菊地 誠志, 佐々木 秀直, 武田 洋司, てんかんをめぐって, XXVI, 69, 69, 2007年03月
日本てんかん学会-北海道地方会, 日本語 - Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes
H. Soma, I. Yabe, A. Takei, N. Fujiki, T. Yanagihara, H. Sasaki, PARKINSONISM & RELATED DISORDERS, 13, S62, S62, 2007年
ELSEVIER SCI LTD, 英語, 研究発表ペーパー・要旨(国際会議) - Usefulness of the scale for assessment and rating of ataxia (SARA)
I. Yabe, M. Matsushima, H. Soma, H. Sasaki, MOVEMENT DISORDERS, 22, S16, S16, 2007年
WILEY-LISS, 英語, 研究発表ペーパー・要旨(国際会議) - ポリグルタミン病における筋エネルギー代謝測定の試み
矢部一郎, THA Khin Khin, 寺江聡, 沖田孝一, 佐々木秀直, 日本神経学会総会プログラム・抄録集, 48th, 252, 2007年
日本語 - スペクトリン遺伝子変異により脊髄小脳変性症5型は発症する.
矢部一郎, 佐々木秀直, Medical Briefs in Brain & Nerve, 16, 4, 4, 2007年
日本語 - Abnormal brain MRI signals in the splenium of the corpus callosum, basal ganglia and internal capsule in a suspected case with tuberculous meningitis
Makoto Hirotani, Ichiro Yabe, Shinsuke Hamada, Sachiko Tsuji, Seiji Kikuchi, Hidenao Sasaki, INTERNAL MEDICINE, 46, 8, 505, 509, 2007年, [査読有り]
A 34-year-old man visited the hospital with chief complaints of headache, fever, and disturbance of consciousness. In view of his clinical condition, the course of the disease, and results of examination, he was diagnosed with viral meningitis and treated accordingly. However, his clinical condition worsened, and MRI revealed abnormal signals in the splenium of the corpus callosum, in the basal ganglia and in the internal capsule, as well as the presence of severe inflammation in the base of the brain. Since he had a high ADA level in the cerebrospinal fluid and was consequently suspected to have tuberculous meningitis, he was placed on antitubercular agents. Then, his clinical condition began to improve. Additional steroid pulse therapy further improved his condition, and abnormal signals in the splenium of the corpus callosum and the basal ganglia resolved. This valuable case suggests that an immune mechanism contributed to the occurrence of central nervous system symptoms associated with tuberculous meningitis., JAPAN SOC INTERNAL MEDICINE, 英語 - Scapular winging as a symptom of cervical flexion myelopathy
Hiroaki Yaguchi, Ikuko Takahashi, Jun Tashiro, Sachiko Tsuji, Ichiro Yabe, Hidenao Sasaki, INTERNAL MEDICINE, 46, 8, 511, 513, 2007年, [査読有り]
A 23-year-old man complained of weakness of the right arm that he first noted six years prior to his visit. Neurological examination revealed atrophy and weakness of the triceps and serratus anterior muscle on the right side, which resulted in scapular winging on that side. MRI with neck flexion revealed compression of the cervical cord enabling a diagnosis of flexion myelopathy. Proximal muscle weakness and atrophy in flexion myelopathies including Hirayama disease are extremely rare. Here, we report a case of unilateral, proximal upper limb atrophy with scapular winging, attributed to middle cervical flexion myelopathy., JAPAN SOC INTERNAL MEDICINE, 英語 - 3,4-diaminopyridineが効果的であった肺小細胞癌合併Lambert-Eaton筋無力症候群の1例
松島理明, 矢口裕章, 岸本利一郎, 辻 幸子, 新野正明, 矢部一郎, 佐々木秀直, 中館 泉, 白石裕一, 本村政勝, 日本内科学会雑誌, 96, 8, 1709, 1711, 2007年, [査読有り]
Lambert-Eaton筋無力症候群(LEMS)は肺小細胞癌を高率に合併する傍腫瘍性症候群である.しばしばLEMSは肺小細胞癌の診断に先行して発症する.LEMSの治療においては3,4-diaminopyridine(3,4-DAP)が臨床症状の改善に効果的であることが報告されており,欧米では3,4-DAPが治療の第一選択薬とされている.しかしながら,本邦では3,4-DAPは治療薬剤として認められていない.今回我々は担癌LEMS患者に3,4-DAPを投与し有効であった.3,4-DAPはLEMSの有効な治療薬であるので,本邦においても保険診療下での使用が可能になることが望まれる.
, The Japanese Society of Internal Medicine, 日本語 - Charcot-Marie-Tooth病X型の1女性例
Basri Rehana, 矢部 一郎, 相馬 広幸, 松島 理明, 矢口 裕章, 加納 崇裕, 辻 幸子, 菊地 誠志, 佐々木 秀直, 臨床神経学, 46, 10, 729, 729, 2006年10月
(一社)日本神経学会, 日本語 - 片側性に急性外眼筋麻痺を呈した1例
松島 理明, 岸本 利一郎, 中村 雅一, 矢口 裕章, 辻 幸子, 矢部 一郎, 菊地 誠志, 佐々木 秀直, 臨床神経学, 46, 10, 730, 730, 2006年10月
(一社)日本神経学会, 日本語 - 大量ガンマグロブリン療法が著効したSjogren症候群に伴うneuropathyの重症例
矢口 裕章, 加納 崇裕, 佐藤 和則, 金塚 雄作, 松島 理明, 中野 史人, 中村 雅一, 辻 幸子, 矢部 一郎, 菊地 誠志, 佐々木 秀直, 臨床神経学, 46, 10, 730, 730, 2006年10月
(一社)日本神経学会, 日本語 - 脳MRI検査にて経時的変化を捉えることができたSSPEの1例
濱田晋輔, 矢部一郎, 佐藤和則, 廣谷真, 寺江聡, 緒方昭彦, 深澤俊行, 菊地誠志, 佐々木秀直, Neuroinfection, 11, 1, 72, 2006年09月01日
日本語 - P-47 10年余りfollowした難治性てんかん例においてCBZ中止を含む薬剤整理が奏功した1経験(薬物治療1,一般演題(ポスター),第40回 日本てんかん学会)
須藤 和昌, 田島 康敬, 松本 昭久, 矢部 一郎, てんかん研究, 24, 3, 242, 242, 2006年08月31日
日本てんかん学会, 日本語 - 運動失調症に関する調査研究 ポリグルタミン病における筋エネルギー代謝測定の試み
佐々木秀直, 矢部一郎, 相馬広幸, 寺江聡, 運動失調症に関する調査研究班 平成17年度 研究報告書, 61-62, 2006年
日本語 - 呼吸不全をきたした移植片対宿主病多発性ニューロパチー
矢部一郎, 加納崇裕, 中野史人, 矢口裕章, 岸本利一郎, 辻 幸子, 菊地誠志, 佐々木秀直, 末梢神経, 17, 223, 224, 2006年, [査読有り]
日本語 - 経時的にMRI画像を捉えることが出来たSSPEの1例
浜田晋輔, 佐藤和則, 広谷真, 矢部一郎, 緒方昭彦, 菊地誠志, 佐々木秀直, 寺江聡, 深沢俊行, 臨床神経学, 45, 6, 459, 2005年06月01日
日本語 - Brain activation during detrusor overactivity in patients with Parkinson's disease: A positron emission tomography study
T Kitta, H Kakizaki, T Furuno, K Moriya, H Tanaka, T Shiga, N Tamaki, Yabe, I, H Sasaki, K Nonomura, JOURNAL OF UROLOGY, 173, 4, 334, 334, 2005年04月
LIPPINCOTT WILLIAMS & WILKINS, 英語, 研究発表ペーパー・要旨(国際会議) - Brain activation during detrusor overactivity in patients with Parkinson disease: A positron emission tomography study
T Kitta, H Kakizaki, T Furuno, K Moriya, H Tanaka, K Nonomura, T Shiga, N Tamaki, Yabe, I, H Sasaki, NEUROUROLOGY AND URODYNAMICS, 24, 5-6, 490, 491, 2005年
WILEY-LISS, 英語, 研究発表ペーパー・要旨(国際会議) - 多系統萎縮症のマウスモデルー乏突起膠細胞にα-シヌクレインを発現させるとグリアおよび神経細胞変性を誘導する.
矢部 一郎, Update on SCD, 2005年 - 海外文献TOPICS; 新しい常染色体劣性遺伝性痙性対麻痺(SPG28)の連鎖解析.
矢部 一郎, 脊椎脊髄, 18, 926, 926, 2005年
日本語 - Herpes simplex virus encephalitis presenting with cerebral infarction-like signs and neuroimages
Yasunori Mito, Kazuto Yoshida, Ichiro Yabe, Makoto Hirotani, Kunio Tashiro, Seiji Kikuchi, Hidenao Sasaki, Hokkaido Journal of Medical Science, 80, 2, 185, 189, 2005年, [査読有り]
A patient with an atypical presentation of herpes simplex virus (HSV) encephalitis mimicking acute cerebral infarction was reported. A 48-year-old man developed left-sided hemiparesis, convulsive seizures, and loss of consciousness. Brain magnetic resonance imaging revealed high intensity areas in the right frontal to parietal lobes on T2-weighted and diffusion-weighted images. Soon after admission with suspected cerebral infarction of the right middle cerebral artery region, the patient had high fever with frequent seizures and severe loss of consciousness. Laboratory findings including cerebrospinal fluid established a diagnosis of HSV encephalitis, and a state of apalic syndrome persisted despite aggressive antiviral therapy., 英語 - A case of acute urinary retention caused by periaqueductal grey lesion
H Yaguchi, H Soma, Y Miyazaki, J Tashiro, Yabe, I, S Kikuchi, H Sasaki, H Kakizaki, F Moriwaka, K Tashiro, JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 75, 8, 1202, 1203, 2004年08月, [査読有り]
B M J PUBLISHING GROUP, 英語, その他 - Clinical features of multiple system atrophy in Japan: MSA-C is the most common manifestation of MSA in Japan
H Soma, Yabe, I, A Takei, N Fujiki, H Sasaki, ANNALS OF NEUROLOGY, 56, S22, S22, 2004年
WILEY-LISS, 英語, 研究発表ペーパー・要旨(国際会議) - Prevalence of SCA14 and spectrum of PKC gamma mutations in a large panel of ataxia patients.
DH Chen, PJ Cimino, L Ranum, Yabe, I, H Sasaki, M Matsushita, TD Bird, WH Raskind, AMERICAN JOURNAL OF HUMAN GENETICS, 73, 5, 546, 546, 2003年11月
UNIV CHICAGO PRESS, 英語, 研究発表ペーパー・要旨(国際会議) - Re-evaluation of clinical presentation in spinocerebellar ataxia type 6
Ichiro Yabe, Hidenao Sasaki, Kunio Tashiro, Brain and Nerve, 55, 4, 299, 306, 2003年04月01日
日本語, 書評論文,書評,文献紹介等 - Susceptibility genes for multiple sclerosis
Toshiyuki Fukazawa, Seiji Kikuchi, Masaaki Niino, Ichiro Yabe, Ryuji Miyagishi, Hikoaki Fukaura, Takeshi Hamada, Kunio Tashiro, Nippon rinsho. Japanese journal of clinical medicine, 61, 8, 1311, 1316, 2003年
Multiple lines of evidence support the role of genetic factors for susceptibility to multiple sclerosis (MS), although unknown environmental factors must play an important role in developing MS. In this paper, we review the reports studied for the possible associations between Japanese MS and candidate genes by using case-control method. As for HLA alleles, HLA-DRB1*1501 and -DPB1*0501 allele have been confirmed to be associated with conventional MS and opticospinal MS, respectively. Some polymorphisms of vitamin D receptor gene, estrogen receptor gene, CTLA-4 gene, and osteopontin gene were reported to be associated with conventional MS. Appropriate case ascertainment and collection as well as proper statistical method are needed to isolate the susceptibility genes for MS., 日本語, 書評論文,書評,文献紹介等 - 脊髄小脳変性症ーその臨床像と最近の知見
矢部 一郎, HSKであい(北海道脊髄小脳変性症友の会会報), 76, 20, 42, 2003年
日本語 - Neurophysiological findings in SPG4 are variable, dependent on the type of spastin mutation.
Matsuura, T, Yabe, I, Sasaki, H, Neurology, 60, 1529, 1532, 2003年, [査読有り]
英語 - Positional vertigo and macroscopic downbeating positioning nystagmus in spinocerebeflar ataxia type
Yabe, I, H Sasaki, K Tashiro, N Takeichi, A Takei, T Hamada, ANNALS OF NEUROLOGY, 52, 3, S57, S57, 2002年09月
WILEY-LISS, 英語, 研究発表ペーパー・要旨(国際会議) - A Japanese case of steroid responsive myopathy with deficient chondroitin sulphate
Yabe, I, S Kikuchi, T Higashi, K Tashiro, Y Maruo, JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 73, 1, 89, 90, 2002年07月, [査読有り]
BRITISH MED JOURNAL PUBL GROUP, 英語, 速報,短報,研究ノート等(学術雑誌) - Episodic ataxia without myokymia
Ichiro Yabe, Hidenao Sasaki, Ryōikibetsu shōkōgun shirīzu, 37, 322, 325, 2002年
日本語, 書評論文,書評,文献紹介等 - A novel locus for dominant ataxia maps to chromosome 19q13.4-qter
H Sasaki, Yamashita, I, Yabe, I, T Fukazawa, S Nogoshi, K Komeichi, A Takada, K Shiraishi, Y Takiyama, M Nishiawa, J Kaneko, H Tanaka, S Tsuji, K Tashiro, ANNALS OF NEUROLOGY, 48, 3, 470, 471, 2000年09月
LIPPINCOTT WILLIAMS & WILKINS, 英語, 研究発表ペーパー・要旨(国際会議) - Distinct form of dominantly inherited late onset pure cerebellar ataxia associated with maternal anticipation and intermittent axial tremor.
Yamashita, I, H Sasaki, Yabe, I, A Takada, K Tashiro, K Shiraishi, A Hata, ANNALS OF NEUROLOGY, 46, 3, 480, 480, 1999年09月
LIPPINCOTT WILLIAMS & WILKINS, 英語, 研究発表ペーパー・要旨(国際会議) - Founder effect, ancestral haplotype, and predisposing chromosome of spinocerebellar ataxia type 6 in the Japanese population.
Yabe, I, H Sasaki, Yamashita, I, A Takada, T Hamada, K Tashiro, Y Suzuki, H Kida, Y Takiyama, M Nishizawa, Y Hokezu, K Nagamatsu, T Oda, A Ohnishi, Inoue, I, A Hata, ANNALS OF NEUROLOGY, 46, 3, 480, 480, 1999年09月
LIPPINCOTT WILLIAMS & WILKINS, 英語, 研究発表ペーパー・要旨(国際会議) - B-33 てんかん症候群国際分類中の「ミオクロニー欠神てんかん(MAE)」の病因としての歯状核赤核淡蒼球ルイ体萎縮症(DRPLA)
須藤 和昌, 矢部 一郎, 畑 大, 横山 徳幸, 川島 淳, 松本 昭久, 田代 邦雄, 日本てんかん学会プログラム・予稿集, 33, 136, 136, 1999年
日本てんかん学会, 日本語 - 遺伝子解析が診断に有用であった若年型DRPLAの1例
入野樹美, 宮岸隆司, 津坂和文, 松本昭久, 矢部一郎, 須藤和昌, 佐々木秀直, 田代邦雄, 市立札幌病院医誌, 59, 167, 172, 1999年, [査読有り]
日本語 - ヒト乾燥硬膜移植後にCreutzfeldt-Jakob病を発症した1例.
丸尾泰則, 横山志穂里, 横山徳幸, 矢部一郎, 新野正明, 函館医学誌, 23, 83, 87, 1999年, [査読有り] - 15年間にわたり,「めまい」発作を主症状としたspinocerebellar ataxia type6 (SCA6)の1例.
矢部一郎, 佐々木秀直, 山下 功, 柳原哲郎, 田代邦雄, 神経内科, 51, 75, 78, 1999年, [査読有り]
日本語 - Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6)
H Sasaki, H Kojima, Yabe, I, K Tashiro, T Hamada, H Sawa, H Hiraga, K Nagashima, ACTA NEUROPATHOLOGICA, 95, 2, 199, 204, 1998年02月, [査読有り]
SCA6 is an autosomal dominant spinocerebellar ataxia (SCA) caused by a small CAG repeat expansion of the gene encoding an alpha-1A-voltage-dependent Ca channel gene subunit on chromosome 19p13. A Japanese woman with SCA6, with a 7-year history of progressive pure cerebellar ataxia, died of malignant lymphoma. Systematic neuropathological examination showed that neuronal degeneration was confined to the cerebellar Purkinje cells and, to a lesser degree, the granular cells, without any involvement of other central nervous system structures. Such pathological selectivity correlates with the localized expression of the responsible gene, and coincides with the neurological manifestation. These findings might contribute to establishing the phenotype of the SCA6 via comparison with other dominant ataxias., SPRINGER VERLAG, 英語 - 周期性方向交代性眼振をみとめたspinocerebellar ataxia type6の1例.
矢部一郎, 佐々木秀直, 山下 功, 鈴木康夫, 田代邦雄, 臨床神経学, 38, 512, 515, 1998年, [査読有り]
日本語 - Analysis of SCA6 mutation in late-onset pure cerebellar ataxia in the Japanese
Yabe, I, H Sasaki, T Matsuura, A Takada, A Wakisaka, T Hamada, K Tashiro, ANNALS OF NEUROLOGY, 42, 3, T249, T249, 1997年09月
LIPPINCOTT-RAVEN PUBL, 英語, 研究発表ペーパー・要旨(国際会議) - ステロイドが有効であった眼球咽頭型ミオパチー.
矢部一郎, 川島 淳, 丸尾泰則, 田代邦雄, 神経内科, 43, 437, 440, 1995年, [査読有り]
日本語 - 味覚障害で発症した多発性硬化症.
矢部一郎, 安藤志穂里, 水戸泰紀, 佐々木秀直, 田代邦雄, 神経内科, 43, 383, 385, 1995年, [査読有り]
日本語 - 汎下垂体機能不全をきたした蝶形骨洞嚢胞の単純X線写真およびMRI所見.
矢部一郎, 蔭山博司, 山田幸司, 田代邦雄, 神経内科, 43, 85, 86, 1995年, [査読有り]
日本語 - 月経周期に一致して髄液圧の上昇とそれに伴う臨床症状の増悪を認めた良性頭蓋内圧亢進症の1例.
矢部一郎, 柳原哲郎, 深澤俊行, 濱田 毅, 田代邦雄, 臨床神経学, 32, 874, 877, 1992年, [査読有り]
日本語 - Elevation of Anti-MuSK antibody in a case with oculopharyngeal myopathy showing chondroitin sulfate deficiency.
Yabe, I, Yokoyama, N, Maruo, Y, Konishi, T, Sasaki, H, J Neurol Neurosurg Psychiatr, [査読有り]
英語
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- 末梢神経障害 解剖生理から診断、治療、リハビリテーションまで
白井慎一,矢部一郎, 遺伝性脊髄小脳変性症と末梢神経障害
医学書院, 2022年10月, [共著] - COVID-19神経ハンドブック 急性期,後遺症からワクチン副反応まで
矢口裕章,矢部一郎, Ⅲ Neuro-COVID(COVID-19に伴う神経合併症)11. 運動失調症(ataxia)
中外医学社, 2022年05月, [共著] - 新臨床内科学第10版
矢部一郎, 脊髄小脳変性疾患 2遺伝性脊髄小脳失調症
医学書院, 2020年03月, [分担執筆] - 今日の治療指針 私はこう治療している 2020
矢部一郎, 頸椎椎間板症
医学書院, 2020年01月, [分担執筆] - 日本臨床 2018年5月増刊号 パーキンソン病(第2版)-基礎・臨床研究のアップデート
松島理明, 矢部一郎, ドパミン作動薬—非麦角系
日本臨床社, 2018年05月, [共著] - 新臨床内科学 第10版
矢部 一郎, 脊髄小脳変性疾患,2.遺伝性脊髄小脳失調症
医学書院, 2018年, [単著] - 臨床遺伝学テキストノート
矢部 一郎, 第12講 成人発症疾患②
診断と治療社, 2018年, [単著] - 神経内科 clinical questions and pearls 末梢神経疾患
矢部 一郎, Fabry病はどんな患者で疑わないといけませんか?どのように治療しますか?
中外医学社, 2017年, [単著] - 神経内科 clinical questions and pearls 神経感染症
矢部 一郎, 単純ヘルペス脳炎成人例の症状や発症経過はどのようなものでしょうか?
中外医学社, 2017年, [単著] - 単純ヘルペス脳炎診療ガイドライン2017
矢部 一郎, 単純ヘルペス脳炎の症状・症候. CQ3-1成人の症状や発症経過ははどのようになっているのか
南江堂, 2017年, [単著] - 神経内科専門医試験問題 解答と解説
矢部 一郎, 変性(認知症以外)
南江堂, 2017年, [単著] - 今日の治療指針 2017年版-私はこう治療している
矢部 一郎, 自律神経障害(シャイ・ドレーガー症候群を含む)
医学書院, 2017年, [単著] - 小脳の最新知見—基礎研究と臨床の最前線
矢部 一郎, 脊髄小脳変性症の薬物療法
医歯薬出版, 2016年, [単著] - 今日の診断指針 第7版
矢部 一郎, 脊髄小脳変性症
医学書院, 2015年, 日本語, [単著] - 小児内科47巻増刊号 小児疾患診療のための病態生理2 改定第5版
山田 崇弘, 柴田 有花, 矢部 一郎, 出生前診断と生命倫理
東京医学社, 2015年, [共著] - 脊髄小脳変性症マニュアル決定版
矢部 一郎, 遺伝性痙性対麻痺
日本プランニングセンター, 2015年, [単著] - 格筋症候群(第2版)(下)—その他の神経筋疾患を含めて—
矢部 一郎, MERRF/MELASオーバーラップ症候群, ミトコンドリア病の臨床的表現型による分類
日本臨床社, 2015年, [単著] - 今日の治療指針 2015年版
矢部 一郎, ミオクローヌス
医学書院, 2014年, 日本語, [単著] - 神経症候群Ⅱ-その他の神経疾患を含めて- 第2版
矢部 一郎, 脊髄小脳変性症、遺伝性対麻痺、常染色体優性遺伝性痙性対麻痺
日本臨床社, 2014年, 443-446, 日本語, [単著] - 国際頭痛分類 第3版beta版
矢部 一郎, 尾崎 彰彦, 付録
医学書院, 2014年, [共著] - 日本臨床 2013年12月 別冊 神経症候群(第2版)Ⅰ -その他の神経疾患を含めて-
矢部 一郎, 佐々木 秀直, ファブリー病
日本臨床社, 2013年, 日本語, [共著] - 日本医師会雑誌 第142巻・特別号(2)生涯教育シリーズ85 神経・精神疾患診療マニュアル
矢部 一郎, 佐々木 秀直, 運動失調
南山堂, 2013年, 2, 99-100, 日本語, [共著] - 神経症候群Ⅱ—その他の神経疾患を含めて— 第2版
矢部 一郎, 常染色体優性遺伝性痙性対麻痺
日本臨床社, 2013年, 日本語, [単著] - 脊椎・脊髄疾患の外科.第2版
矢部 一郎, 各種検査(電気生理学的検査、髄液検査)
三輪書店, 2013年, 日本語, [単著] - 改訂第3版 EBMに基づく脳神経疾患の基本治療
矢部 一郎, 佐々木 秀直, 脊髄小脳変性症
メジカルビュー社, 2010年, 7, 461-467, 日本語, [共著] - EBM 神経疾患の治療 2009-2010
矢部 一郎, 佐々木 秀直, 脊髄小脳変性症に対して非運動療法は有用か?
中外医学社, 2009年, 6, 314-319, 日本語, [共著] - 新臨床内科学 第9版
矢部 一郎, 脊髄小脳変性疾患,1.孤発性疾患, 2. 遺伝性疾患
医学書院, 2009年, 9, 1193-1195, 日本語, [単著] - Research Advances in Spinocerebellar Degeneration and Spastic Paraplegia
矢部 一郎, 佐々木 秀直, Spinocerebellar ataxia type 14
Research Signpost, 2008年, 10, 47-56, 英語, [共著] - 整形外科学大系22巻「末梢神経疾患、筋疾患、循環障害」
矢部 一郎, 佐々木 秀直, radiation neuropathy, 5章末梢神経疾患各論
中山書店, 2007年, 3, 223-225, 日本語, [共著] - EBM 神経疾患の治療 2007-2008
矢部一郎, 佐々木秀直, TRHやTRH誘導体は本当に有効なのか
中外医学社, 2007年, 5, 240-244, 日本語, [共著] - 改訂第二版 EBMに基づく脳神経疾患の基本治療
矢部一郎, 佐々木秀直, 遺伝性脊髄小脳変性症
メジカルビュー社, 2006年, 5, 394-398, 日本語, [共著] - 脊椎・脊髄疾患の外科
矢部一郎, 各種検査(電気生理学的検査、髄液検査)
三輪書店, 2006年, 8, 29-36, 日本語, [単著] - 医学大辞典
矢部 一郎, アタキシン7、脊髄小脳変性症7型
医学書院, 2003年, 2, 27.1387, 日本語, [単著] - EBMに基づく脳神経疾患の基本治療
矢部 一郎, 遺伝性脊髄小脳変性症
メジカルビュー社, 2001年, 5, 307-311, 日本語, [共著]
講演・口頭発表等
- Adaptability index of Prism Adaptability Test stably evaluates disease conditions of cerebellar degenerations in clinical environment
Honda T, Bando K, Ishikawa K, Shirai S, Yabe I, Ishihara T, Onodera O, Higashiyama Y, Tanaka F, Kishimoto Y, Katsuno M, Shimizu T, Hanajima R, Takahashi Y, Mizusawa H
International Congress for Ataxia Research(ICAR), 英語
2024年11月12日 - 2024年11月15日 - 多発性単神経炎を呈した好酸球多発血管炎性肉芽腫症(EGPA)8例の治療経験
浦 茂久,脇田雅大,石川 楓,宮岸麻衣,矢口裕章,矢部一郎
第42回日本神経治療学会学術集会, 2024年11月08日, 日本語, 口頭発表(一般)
2024年11月07日 - 2024年11月09日 - 進行期胆嚢癌を合併した,高齢男性における抗NMDA受容体脳炎の1例
石川 楓,宮岸麻衣,脇田雅大,浦 茂久,矢口裕章,矢部一郎
第42回日本神経治療学会学術集会, 2024年11月07日, 日本語, 口頭発表(一般)
2024年11月07日 - 2024年11月09日 - FGF14, ZFHX3, NOTCH2NLC gene repeat variant found in clinically diagnosed multiple system atrophy
Matsushima M, Uwatoko H, Shirai S, Iwata I, Yaguchi H, Miyatake S, Matsumoto N, Yamada T, Yabe I
ASHG 2024 Annual Meeting, 2024年11月08日, 英語
2024年11月05日 - 2024年11月09日 - Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese
Matsumoto N, Doi H, Yaguchi H, Koshimizu E, Yabe I, Miyatake S
ASHG 2024 Annual Meeting, 英語
2024年11月05日 - 2024年11月09日 - 本邦における自己免疫性小脳失調症の抗体測定体制の確立
矢口裕章,工藤彰彦,藤井信太朗,野村太一,江口克紀,矢部一郎
第42回日本神経治療学会学術集会〈シンポジウム13〉, 2024年11月08日, 日本語 - 地域連携が塞栓源同定に有用であったESUSと診断されていた若年性脳梗塞の2例
浦 茂久,宮岸麻衣,石川 楓,脇田雅大,矢口裕章,矢部一郎,廣上 貢
第12回日本難病医療ネットワーク学会学術集会, 2024年10月25日, 日本語, ポスター発表
2024年10月25日 - 2024年10月26日 - 自己免疫性脳炎診断と治療方針決定における脳波所見の重要性と今後の課題
矢口裕章,野村太一,工藤彰彦,藤井信太朗,矢部一郎
第54回日本臨床神経生理学会学術大会〈SY27-4〉, 2024年10月26日, 日本語
2024年10月24日 - 2024年10月26日 - 侵襲性G群溶連菌感染症による細菌性髄膜炎の1例
脇田雅大,宮岸麻衣,石川 楓,浦 茂久,矢口裕章,矢部一郎
第28回日本神経感染症学会総会・学術大会, 2024年10月12日, 日本語
2024年10月11日 - 2024年10月12日 - NOTCH2NLC gene repeat variant found in clinically diagnosed multiple system atrophy
松島理明,上床 尚,白井慎一,岩田育子,矢口裕章,山田崇弘,矢部一郎
日本人類遺伝学会第69回大会, 2024年10月12日, 英語, ポスター発表
2024年10月09日 - 2024年10月12日 - Molecular characterization of SCA27B (GAA-FGF14 ataxia) in Japanese by nanopore sequencing
宮武聡子,土井 宏,矢口裕章,輿水江里子,水口 剛,森野豊之,和泉唯信,下畑亨良,吉田邦広,足立弘明,田中章景,矢部一郎,松本直通
日本人類遺伝学会第69回大会, 2024年10月11日, 英語, 口頭発表(一般)
2024年10月09日 - 2024年10月12日 - A case of genetic counseling involving a missense variant in ACAT1 detected by direct-to-consumer genetic testing
向中野実央,松島理明,柴田有花,矢部一郎,山田崇弘
日本人類遺伝学会第69回大会, 2024年10月10日, 英語, ポスター発表
2024年10月09日 - 2024年10月12日 - Recent Advances in Hereditary Spinocerebellar Ataxia
白井慎一,矢口裕章,矢部一郎
日本人類遺伝学会第69回大会〈シンポジウム18〉, 2024年10月12日, 日本語 - 己免疫性運動異常症~自己免疫性小脳失調症を中心に~
矢口裕章,工藤彰彦,藤井信太朗,野村太一,矢部一郎
第28回日本神経感染症学会総会・学術大会〈シンポジウム1〉, 2024年10月11日, 日本語 - 日本人ランバート・イートン筋無力症候群(LEMS)患者を対象としたアミファンプリジン(3,4-DAP)の長期有効性と安全性(LMS-005試験)
本村政勝,畑中裕己,森 まどか,辻野 彰,藤田信也,矢部一郎,五十嵐裕子,槍沢公明
第36回日本神経免疫学会学術集会, 2024年10月05日, 日本語
2024年10月03日 - 2024年10月05日 - 免疫沈降法とショットガンプロテオミクスによる自己抗体測定方法の開発
工藤彰彦,矢口裕章,渡部 昌,藤井信太朗,野村太一,上床 恵,上床 尚,白井慎一,岩田育子,松島理明,田中惠子,高橋秀尚,畠山鎮次,矢部一郎
第36回日本神経免疫学会学術集会, 2024年10月05日
2024年10月03日 - 2024年10月05日 - オファツムマブ投与中のリンパ球減少についての検討
上床 尚,佐藤翔紀,矢口裕章,山田萌美,佐藤和則,川島 淳,深澤俊行,矢部一郎
第36回日本神経免疫学会学術集会, 2024年10月04日, 日本語, ポスター発表
2024年10月03日 - 2024年10月05日 - 抗NMDA受容体脳炎発症1年半後に成熟嚢胞性奇形腫を認めた1例
石川 楓,瀬尾 祥,大岩 慧,宮岸麻衣,脇田雅大,浦 茂久,矢口裕章,矢部一郎
第36回日本神経免疫学会学術集会〈ワークショップ〉, 2024年10月03日
2024年10月03日 - 2024年10月05日 - 認知症診療の現状と課題
矢部一郎
第104回北海道医学大会総会〈各科トピックス〉, 2024年10月05日, 日本語 - 自己免疫性小脳失調症に関連する自己抗体とレジストリ研究
矢口裕章,工藤彰彦,藤井信太朗,野村太一,矢部一郎
第36回日本神経免疫学会学術集会〈シンポジウム2〉, 2024年10月03日, 日本語 - Assessment of cognitive function in a Japanese DM2 patient
Ura S, Miyagishi M, Ishikawa K, Wakita M, Yaguchi H, Yabe I, Otsuki M, Minami N, Nishino I, Mitsuhashi S, Matsuura T
AOMC-JMS2024, 英語
2024年09月12日 - 2024年09月15日 - Bassoon proteinopathy病態解析研究の進捗
矢口裕章,矢部一郎
厚生労働科学研究費補助金 難治性疾患政策研究事業「神経変性疾患領域における難病の医療水準の向上や患者のQOL向上に資する研究」令和6年(2024年)度ワークショップ, 2024年07月19日, 日本語 - 患者さんとの出会いから始まったbassoon proteinopathy病態解析研究
矢部一郎
九州大学神経内科同門会2024年総会, 2024年07月13日, 日本語 - 5-year follow up evaluation of the Parkinson’s disease patients who recived Deep Brain Stimulation
Pan J, Shirai S, Eguchi K, Yamazaki K, Kawabori M, Li Y, Hirata K, Fujimura M, Yabe I
第65回日本神経学会学術大会, 2024年06月01日, 英語, ポスター発表
2024年05月29日 - 2024年06月01日 - The results of behavioral and pathological analyses of bassoon knock-in mice
Tanaka D, Yaguchi H, Kudo A, Yoshizaki K, Nomura T, Hara T, Takahashi H, Miki Y, Mori F, Wakabayashi K, Yabe I
第65回日本神経学会学術大会, 2024年06月01日, 英語, 口頭発表(一般)
2024年05月29日 - 2024年06月01日 - A retrospective study of autoimmune encephalitis over a 21-year period in a single institution
Kudo A, Yaguchi H, Nomura T, Uwatoko H, Shirai S, Iwata I, Matsushima M, Tanaka K, Kimura A, Watanabe O, Yoneda M, Yabe I
第65回日本神経学会学術大会, 2024年05月31日, 英語, ポスター発表
2024年05月29日 - 2024年06月01日 - 非流暢/失文法型原発性進行性失語(naPPA)の下位分類とその症候
大槻美佳,中川賀嗣,輿水修一,緒方昭彦,新保和賢,水戸泰紀,田島康敬,濱田晋輔,浦 茂久,金藤公人,保前英希,赤池 瞬,岩田育子,松島理明,矢口裕章,矢部一郎
第65回日本神経学会学術大会, 2024年05月31日, 日本語, 口頭発表(一般)
2024年05月29日 - 2024年06月01日 - Prevalence of autosomal dominant spinocerebellar ataxias in Hokkaido
Mizushima K, Shibata Y, Shirai S, Matsushima M, Miyatake S, Iwata I, Yaguchi H, Matsumoto N, Yabe I
第65回日本神経学会学術大会, 2024年05月30日, 英語, ポスター発表
2024年05月29日 - 2024年06月01日 - 診療ガイドラインに示された臨床評価スケールの国際障害分類を用いた体系的分析
佐久嶋 研,矢部一郎
第65回日本神経学会学術大会, 2024年05月30日, 日本語, ポスター発表
2024年05月29日 - 2024年06月01日 - レセプトデータを用いた脊髄空洞症における移行期医療の実態調査(第二報)
白井慎一,江口克紀,財津將嘉,小橋 元,矢口裕章,中島健二,矢部一郎
第65回日本神経学会学術大会, 2024年05月30日, 日本語, ポスター発表
2024年05月29日 - 2024年06月01日 - 歩行動画と深層学習を利用した脊髄小脳変性症患者のSARA点数の予測
岩見昂亮,江口克紀,長井 梓,飯田有紀,濱田晋輔,本間早苗,武井麻子,森若文雄,矢口裕章,矢部一郎
第65回日本神経学会学術大会, 2024年05月30日, 日本語, ポスター発表
2024年05月29日 - 2024年06月01日 - 自己免疫性小脳失調症の診断基準の有用性と限界についての検討
竹腰 顕,木村暁夫,大野陽哉,吉倉延亮,矢口裕章,矢部一郎,下畑亨良
第65回日本神経学会学術大会, 2024年05月30日, 日本語, 口頭発表(一般)
2024年05月29日 - 2024年06月01日 - 日本人LEMS患者を対象としたアミファンプリジン(3,4-DAP)の臨床試験(LMS-005試験)
本村政勝,畑中裕己,森 まどか,辻野 彰,藤田信也,矢部一郎,五十嵐裕子,槍沢公明
第65回日本神経学会学術大会, 2024年05月30日, 日本語, 口頭発表(一般)
2024年05月29日 - 2024年06月01日 - Establishment of a registry for autoimmune cerebellar ataxia and an assay system of autoantibodies
Fujii S, Yaguchi H, Kudo A, Eguchi K, Nomura T, Uwatoko H, Shirai S, Iwata I, Matsushima M, Hayashi H, Tanaka K, Yoneda M, Kimura A, Shimohata T, Takahashi Y, Mizusawa H, Yabe I
第65回日本神経学会学術大会, 2024年05月30日, 英語, 口頭発表(一般)
2024年05月29日 - 2024年06月01日 - First Report of familial ALS8 in Japan
Iwata I, Niino M, Tarisawa M, Uwatoko H, Shirai S, Matsushima M, Yaguchi H, Nakahara G, Miyatake S, Matsumoto N, Yabe I
第65回日本神経学会学術大会, 2024年05月29日, 英語, ポスター発表
2024年05月29日 - 2024年06月01日 - Natural history and epidemiological study of multiple system atrophy in Hokkaido: HoRC-MSA 2014-2023
Matsushima M, Sakushima K, Kanatani Y, Nishimoto N, Sawada J, Matsuoka T, Uesugi H, Minami N, Sako K, Takei A, Hisahara S, Tamakoshi A, Sato N, Sasaki H, Yabe I, Department of Health and Welfare, Hokkaido Government, Sapporo City Public Health Office, HoRC-MSA study group
第65回日本神経学会学術大会, 2024年05月29日, 英語, ポスター発表
2024年05月29日 - 2024年06月01日 - Bassoon遺伝子rare variantを有するパーキンソン症候群における神経病理学的検討
矢口裕章,谷川 聖,三木康生,饗場郁子,吉田眞理,池内 健,田中伸哉,若林孝一,矢部一郎
第65回日本神経病理学会総会学術研究会, 2024年05月17日, 日本語, ポスター発表
2024年05月16日 - 2024年05月18日 - 小脳失調患者の歩行動画と深層学習を利用した疾患鑑別および重症度予測に関する研究
江口克紀,長井 梓,飯田有紀,濱田晋輔,本間早苗,武井麻子,森若文雄,矢口裕章,矢部一郎
日本小脳学会第14回学術集会・総会, 2024年03月16日, 日本語 - Sez6l2抗体陽性自己免疫性小脳失調症例のまとめ
矢口裕章,阿部 恵,工藤彰彦,藤井信太朗,野村太一,上床 尚,白井慎一,岩田育子,松島理明,竹腰 顕,木村暁夫,下畑亨良,矢部一郎
日本小脳学会第14回学術集会・総会, 2024年03月16日, 日本語 - FGF14におけるGAA intermediate repeatを認めSCA27Bに類似した臨床症状を呈した1例
白井慎一,水島慶一,上床 尚,岩田育子,松島理明,矢部一郎
日本小脳学会第14回学術集会・総会, 2024年03月16日, 日本語 - 脊髄小脳変性症の臨床における最近の話題
矢部一郎
日本小脳学会第14回学術集会・総会, 2024年03月16日, 日本語 - 神経難病の発症前遺伝カウンセリングの在り方は変化しつつある
松島理明,柴田有花,山田崇弘,矢部一郎
第11回日本難病医療ネットワーク学会学術集会, 2023年11月24日, 日本語
2023年11月24日 - 2023年11月25日 - MRgFUS後に再憎悪した振戦優位型パーキンソン病に対してSTN-DBSを行った1例
白井慎一,江口克紀,山﨑和義,松島理明,川堀真人,藤村 幹,矢部一郎
第23回北海道機能神経外科研究会, 2023年11月11日, 日本語 - 本邦における自己免疫性小脳失調症レジストリ作成と診断基準作成の試み
矢口裕章,工藤彰彦,野村太一,江口克紀,田中恵子,米田 誠,木村暁夫,下畑亨良,矢部一郎
第41回日本神経治療学会学術集会, 2023年11月05日, 日本語, 口頭発表(一般)
2023年11月03日 - 2023年11月05日 - 特発性小脳性運動失調症に類似する自己免疫性/傍腫瘍性疾患
矢口裕章,工藤彰彦,矢部一郎
第41回日本神経治療学会学術集会, 2023年11月03日, 日本語
2023年11月03日 - 2023年11月05日 - 鼻性髄液漏により再発性細菌性髄膜炎を呈した1例
石丸誠己,布村 菫,脇田雅大,浦 茂久
第27回日本神経感染症学会総会・学術大会, 2023年10月13日, 日本語
2023年10月13日 - 2023年10月14日 - 中枢神経感染症の診断と治療に対する髄液多項目核酸検査の効果
岩田育子,上床 尚,白井慎一,松島理明,矢口裕章,石黒信久,豊嶋崇徳,矢部一郎
第27回日本神経感染症学会総会・学術大会, 2023年10月13日, 日本語
2023年10月13日 - 2023年10月14日 - Genetic testing and clinical care for Birt-Hogg-Dubé syndrome: A study of 5 families
Sasaki Y, Furuya M, Osawa T, Yanagi T, Shimizu K, Shibata Y, Matsushima M, Yabe I, Yamada T
日本人類遺伝学会第68回大会, 2023年10月14日, 英語
2023年10月11日 - 2023年10月14日 - Open-ended responses to a multicenter survey of the secondary finding disclosure process for cancer genome profiling
Shimada S, Yamada T, Minamoto A, Matsukawa M, Yabe I, Aoki Y, Oda K, Ueki A, Higashigawa S, Morikawa M, Sato Y, Hirasawa A, Ogawa M, Kondo T, Yoshioka M, Kanai M, Muto M, Kosugi S
日本人類遺伝学会第68回大会, 2023年10月13日, 英語
2023年10月11日 - 2023年10月14日 - 自己免疫性小脳失調症に対する免疫沈降法と質量分析法を用いた網羅的自己抗体測定方法の開発
工藤彰彦,矢口裕章,渡部 昌,上床 尚,白井慎一,岩田育子,松島理明,高橋秀尚,畠山鎮次,矢部一郎
第35回日本神経免疫学会学術集会, 2023年09月15日, 日本語
2023年09月13日 - 2023年09月15日 - 視神経脊髄炎関連疾患(NMOSD)に対するサトラリズマブの使用経験
上床 尚,佐藤翔紀,白井慎一,岩田育子,松島理明,矢口裕章,矢部一郎
第35回日本神経免疫学会学術集会, 2023年09月14日, 日本語, ポスター発表
2023年09月13日 - 2023年09月15日 - 脊髄空洞症の移行医療
矢部一郎
厚生労働科学研究費補助金(難治性疾患政策研究事業)「神経変性疾患領域における難病の医療水準の向上や患者のQOL向上に資する研究」班 令和5年度ワークショップ, 2023年08月25日, 日本語
2023年08月25日 - 2023年08月25日 - 音声データと深層学習を利用した運動低下性および失調性構音障害の鑑別
江口克紀,藤田賢一,中城雄一,濱田晋輔,飯田有紀,野中道夫,本間早苗,武井麻子,森若文雄,矢口裕章,矢部一郎
第17回パーキンソン病・運動障害疾患コングレス, 2023年07月22日, 日本語, ポスター発表
2023年07月20日 - 2023年07月22日 - パーキンソン病脳深部刺激療法術後5年目における治療有効性の評価
白井慎一,江口克紀,山﨑和義,松島理明,川堀真人,平田健司,藤村 幹,矢部一郎
第17回パーキンソン病・運動障害疾患コングレス, 2023年07月20日, 日本語, ポスター発表
2023年07月20日 - 2023年07月22日 - 当院いおけるHBOC症例のフォローアップに関する調査
佐々木佑菜,三田村 卓,松本隆児,桒谷将城,細田充主,安部崇重,柴田有花,松島理明,矢部一郎,山田崇弘
第47回日本遺伝カウンセリング学会学術集会, 2023年07月07日, 日本語, ポスター発表
2023年07月07日 - 2023年07月09日 - がん遺伝子パネル検査の二次的所見開示プロセスに関する現状調査:多施設対象アンケート調査
島田 咲,山田崇弘,源 明理,松川愛未,矢部一郎,青木洋子,織田克利,植木有紗,東川智美,森川真紀,佐藤友紀,平沢 晃,小川昌宣,近藤知大,吉岡正博,金井雅史,武藤 学,小杉眞司
第47回日本遺伝カウンセリング学会学術集会, 2023年07月07日, 日本語, 口頭発表(一般)
2023年07月07日 - 2023年07月09日 - 遺伝性神経疾患における発症前診断の現状と課題:全国調査の結果から
柴田有花,矢部一郎
第47回日本遺伝カウンセリング学会学術集会〈シンポジウム2〉, 2023年07月07日, 日本語
2023年07月07日 - 2023年07月09日 - Pathological study of PSP-like syndrome cases with mutations in BSN and BSN knock-in mice
Yaguchi H, Wakita M, Otsuki M, Tanikawa S, Miki Y, Kudo A, Nagai A, Uwatoko H, Mito Y, Yoshizaki K, Hara T, Ikeuchi T, Tanaka S, Wakabayashi K, Yabe I
第64回日本神経学会学術大会, 2023年06月03日, 英語, ポスター発表
2023年05月31日 - 2023年06月03日 - フィンゴリモドの投与感覚と再発予防効果の検討
上床 尚,佐藤翔紀,山田萌美,佐藤和則,白井慎一,岩田育子,松島理明,矢口裕章,川島 淳,深澤俊行,矢部一郎
第64回日本神経学会学術大会, 2023年06月03日, 日本語, ポスター発表
2023年05月31日 - 2023年06月03日 - 単一施設におけるフマル酸ジメチル使用132例の後方視的検討
佐藤翔紀,上床 尚,矢口裕章,山田萌美,佐藤和則,川島 淳,深澤俊行,矢部一郎
第64回日本神経学会学術大会, 2023年06月03日, 日本語, ポスター発表
2023年05月31日 - 2023年06月03日 - 脊髄小脳失調症1型の自然歴調査研究
白井慎一,林 宏至,岡田和史,伊藤陽一,佐々木秀直,矢部一郎
第64回日本神経学会学術大会, 2023年06月02日, 日本語, ポスター発表
2023年05月31日 - 2023年06月03日 - Natural history and epidemiological study of multiple system in Hokkaido: HoRC-MSA project
Matsushima M, Sakushima K, Kanatani Y, Nishimoto N, Sawada J, Matsuoka T, Uesugi H, Minami N, Sako K, Takei A, Hisahara S, Tamakoshi A, Sato N, Sasaki H, Yabe I, Department of Health Office, HoRC-MSA study group
第64回日本神経学会学術大会, 2023年05月31日, 英語, ポスター発表
2023年05月31日 - 2023年06月03日 - 多系統萎縮症新診断基準の有用性の検討
市之川萌奈美,松島理明,工藤彰彦,佐久嶋 研,西本尚樹,澤田 潤,松岡 健,南 尚哉,佐光一也,武井麻子,久原 真,佐藤典宏,佐々木秀直,矢部一郎
第64回日本神経学会学術大会, 2023年05月31日, 日本語, ポスター発表
2023年05月31日 - 2023年06月03日 - A retrospective study of 335 patients with cerebellar ataxia
Kudo A, Yaguchi H, Mizushima K, Abe M, Nagai A, Uwatoko H, Shirai S, Iwata I, Matsushima M, Yabe I
第64回日本神経学会学術大会, 2023年05月31日, 英語, 口頭発表(一般)
2023年05月31日 - 2023年06月03日 - 父親がハンチントン病と臨床診断されており発症前診断を希望する健常女性の症例
矢部一郎
第64回日本神経学会学術大会〈教育コース05(中級向け)〉, 2023年05月31日, 日本語
2023年05月31日 - 2023年06月03日 - 自己免疫性小脳性運動失調症(autoimmune cerebellar ataxia:ACA)の頻度とTRIM9,46,67抗体とPKCγ抗体測定系の確立の経過報告
工藤彰彦, 矢口裕章, 野村太一, 阿部 恵, 江口克紀, 上床 尚, 白井慎一, 岩田育子, 松島理明, 矢部一郎
日本小脳学会第13回学術集会・総会, 2023年03月25日, 日本語 - SCA27Bの本邦例
白井慎一,水島慶一,石川 楓,山田一貴,田中大貴,大嶌祐貴,上床 尚,岩田育子,松島理明,宮武聡子,矢口裕章,松本直通,矢部一郎
日本小脳学会第13回学術集会・総会, 2023年03月25日, 日本語 - COL11A2遺伝子の新規ナンセンス変異をホモ接合性に認めた骨系統疾患の症例
佐々木佑菜,森田真也,長 和俊,河口 哲,柴田有花,本間明宏,真部 淳,渡利英道,矢部一郎
日本人類遺伝学会第67回大会, 2022年12月16日, 日本語
2022年12月14日 - 2022年12月17日 - モザイク型ロバートソン型転座を伴った小児急性リンパ性白血病
長谷河昌孝,平林真介,澤井彩織,寺下友佳代,杉山美奈子,長 祐子,柴田有花,長 和俊,矢部一郎,真部 淳
日本人類遺伝学会第67回大会, 2022年12月16日, 日本語
2022年12月14日 - 2022年12月17日 - Germline BRCA2にpathogenic variantを認めた卵巣癌肉腫の一例
黒須博之,三田村 卓,細川亜美,佐々木佑菜,柴田有花,加藤ももこ,矢部一郎,渡利英道
日本人類遺伝学会第67回大会, 2022年12月16日, 日本語
2022年12月14日 - 2022年12月17日 - 北海道における常染色体顕性遺伝(優性遺伝)性脊髄小脳変性症の疾患構成
柴田有花,松島理明,江口克紀,長井 梓,脇田雅大,矢部一郎
日本人類遺伝学会第67回大会, 2022年12月15日, 日本語
2022年12月14日 - 2022年12月17日 - 本邦におけるゲノム医療の現状と将来の頭痛診療への応用に向けた希望的予測
矢部一郎
第50回日本頭痛学会総会〈シンポジウム12〉, 2022年11月26日, 日本語
2022年11月25日 - 2022年11月26日 - アミトリプチリンが奏功した小児の網膜片頭痛の1例
山田一貴,野村太一,大嶌祐貴,浦 茂久,矢部一郎
第40回日本神経治療学会学術集会, 2022年11月04日, 日本語
2022年11月02日 - 2022年11月04日 - 抗ミトコンドリアM2抗体陽性筋炎17例の臨床的特徴
長井 梓,永井利幸,矢口裕章,藤井信太朗,上床 尚,白井慎一,岩田育子,松島理明,堀内一宏,浦 茂久,安斉俊久,矢部一郎
第40回日本神経治療学会学術集会, 2022年11月04日, 日本語
2022年11月02日 - 2022年11月04日 - MOG抗体関連脳炎の臨床的特徴の検討
大嶌祐貴,山田一貴,白井慎一,岩田育子,金子仁彦,高橋利幸,田中惠子,藤原一男,浦 茂久,矢部一郎
第40回日本神経治療学会学術集会, 2022年11月03日, 日本語
2022年11月02日 - 2022年11月04日 - 治療可能な神経疾患としての自己免疫性小脳失調症~早期診断・早期治療を目指して~
矢口裕章,矢部一郎
第40回日本神経治療学会学術集会〈シンポジウム6〉, 2022年11月02日, 日本語
2022年11月02日 - 2022年11月04日 - 敗血症関連脳症5例の脳波所見の検討
浦 茂久,布村 菫,石丸誠己,脇田雅大,岩田育子,白井慎一,矢部一郎
第26回日本神経感染症学会総会・学術大会, 2022年10月15日, 日本語
2022年10月14日 - 2022年10月15日 - 帯状疱疹性髄膜炎後に血管狭窄が出現し,ステロイド治療が有効であった1例
上床 尚,大嶌祐貴,阿部 恵,脇田雅大,白井慎一,岩田育子,松島理明,矢口裕章,浦 茂久,矢部一郎
第26回日本神経感染症学会総会・学術大会, 2022年10月14日, 日本語
2022年10月14日 - 2022年10月15日 - 難治性遺伝性疾患の発症前診断〜病態修飾療法時代を迎えて
矢部一郎
第24回北海道出生前診断研究会 特別講演, 2022年10月08日 - Detection of specific antigens in immune-mediated cerebellar ataxia
Kudo A, Yaguchi H, Abe M, Nagai A, Shirai S, Takahashi-Iwata I, Matsushima M, Watanabe M, Hatakeyama S, Yabe I
International Congress of Parkinson's Disease and Movement Disorders, 2022年09月16日, 英語
2022年09月15日 - 2022年09月18日 - Japanese cases of Sez6l2 autoimmunity
Abe M, Yaguchi H, Kudo A, Nagai A, Shirai S, Takahashi-Iwata I, Matsushima M, Kimura A, Shimohata T, Yabe I
International Congress of Parkinson's Disease and Movement Disorders, 2022年09月16日, 英語
2022年09月15日 - 2022年09月18日 - 非集積地における遺伝性トランスサイレチン型アミロイドーシスの診療経験
松島理明,足澤萌奈美,野村太一,大嶌祐貴,芳野正修,柴田有花,脇田雅大,上床 尚,白井慎一,岩田育子,矢口裕章,矢部一郎
第33回日本末梢神経学会学術集会, 2022年09月09日, 日本語
2022年09月10日 - 2022年09月10日 - 小脳性運動失調症の鑑別
矢部一郎
第16回パーキンソン病・運動障害疾患コングレス 教育講演5, 2022年07月22日
2022年07月21日 - 2022年07月23日 - 脳深部刺激療法術後4年の経過に関する12例の検討
白井慎一, 江口克紀, 山﨑和義, 松島理明, 加納崇裕, 笹森 徹, 平田健司, 大槻美佳, 北川まゆみ, 寳金清博, 佐々木秀直, 藤村 幹, 矢部一郎
第16回パーキンソン病・運動障害疾患コングレス, 2022年07月21日
2022年07月21日 - 2022年07月23日 - 乳癌診療における包括的がんゲノムプロファイリング検査の現状と実施時期についての検討
萩尾加奈子, 菊地順子, 高田弘一, 田邊裕貴, 杉山未奈子, 大原克仁, 天野虎次, 畑中佳奈子, 畑中 豊, 高橋將人, 矢部一郎, 松野吉宏, 櫻井晃洋, 石黒 敦, 水上裕輔, 秋田弘俊, 木下一郎
第30回日本乳癌学会学術総会, 2022年06月30日
2022年06月30日 - 2022年07月02日 - 非HIV関連かつ免疫抑制剤を使用していない進行性多巣性白質脳症5例の臨床的検討
穴田麻眞子, 矢口裕章, 布村 菫, 石丸誠志, 水島慶一, 工藤彰彦, 佐藤翔紀, 阿部 恵, 江口克紀, 長井 梓, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 南 尚哉, 中道一生, 松野吉宏, 田中伸哉, 矢部一郎
第63回日本神経学会学術大会, 2022年05月19日
2022年05月18日 - 2022年05月22日 - 脳神経内科専門医不在地域での患者支援体制における多職種カンファレンスの効果
太田 緑,村中徹人,早川真由美,大腰真弓,大塚真由美,小林真由美,古川典子,矢部一郎
第63回日本神経学会学術大会, 2022年05月21日
2022年05月18日 - 2022年05月21日 - Sez6l2抗体と小脳性運動失調症
矢口裕章, 阿部 恵, 矢部一郎
第63回日本神経学会学術大会 ホットトピックス10, 2022年05月21日
2022年05月18日 - 2022年05月21日 - 中枢神経悪性リンパ腫の検討
水島慶一, 白井慎一, 岩田育子, 松島理明, 矢口裕章, 清水亜衣, 矢部一郎
第63回日本神経学会学術大会, 2022年05月21日
2022年05月18日 - 2022年05月21日 - 非流暢/失文法型原発性進行性失語:脳血流・イオフルパンSPECTと症候・経過の関係
大槻美佳, 中川賀嗣, 輿水修一, 緒方昭彦, 新保和賢, 水戸泰紀, 田島康敬, 濱田晋輔, 浦 茂久, 金藤公人, 保前英希, 岩田育子, 松島理明, 矢部一郎
第63回日本神経学会学術大会, 2022年05月21日
2022年05月18日 - 2022年05月21日 - 進行性核上性麻痺および類縁疾患のGenetics
矢部一郎
第63回日本神経学会学術大会 ホットトピックス09, 2022年05月20日
2022年05月18日 - 2022年05月21日 - サーベイランス結果に基づく北海道におけるsporadic Creutzfeldt-Jakob diseaseの疫学
佐藤翔紀, 岩田育子, 濱田晋輔, 白井慎一, 松島理明, 矢口裕章, 佐藤克也, 北本哲之, 森若文雄, 水澤英洋, 山田正仁, 矢部一郎
第63回日本神経学会学術大会, 2022年05月20日
2022年05月18日 - 2022年05月21日 - 健常者におけるMCQ-30日本語版の年齢別基準値の検討
竹内 恵, 柴田有花, 長井 梓, 山田尚子, 矢部一郎
第63回日本神経学会学術大会, 2022年05月20日
2022年05月18日 - 2022年05月21日 - 脊髄小脳失調症14型(SCA14)の自然歴収集研究
白井慎一, 佐々木秀直, 矢部一郎
第63回日本神経学会学術大会, 2022年05月20日
2022年05月18日 - 2022年05月21日 - Genetic analysis of RFC1 gene for spinocerebellar degeneration and multiple system atrophy
Wakita M, Abe M, Nagai A, Iwata I, Yaguchi H, Akimoto S, Takei A, Yabe I
第63回日本神経学会学術大会, 2022年05月20日
2022年05月18日 - 2022年05月21日 - Pathological study of BSN protainopathy and produceing of mutant BSN gene introducing knock-in mouse
Yaguchi H, Wakita M, Nagai A, Shirai S, Iwata I, Matsushima M, Miki Y, Hara T, Yoshizaki K, Takahashi H, Wakabayashi K, Yabe I
第63回日本神経学会学術大会, 2022年05月20日
2022年05月18日 - 2022年05月21日 - 多発性硬化症に対する疾患修飾薬使用後の肝・胆道系酵素変動の検討
上床 尚, 山田萌美, 佐藤和則, 川島 淳, 深澤俊行, 矢部一郎
第63回日本神経学会学術大会, 2022年05月19日
2022年05月18日 - 2022年05月21日 - Cerebellar ataxia patients with anti-Sez6l2 antibody in Japan
Abe M, Yaguchi H, Kudo A, Nagai A, Shirai S, Iwata I, Matsushima M, Nakamura N, Isahaya K, Akasu Y, Shibata S, Yamano Y, Ashida S, Kasai T, Kimura A, Shimohata T, Yabe I
第63回日本神経学会学術大会, 2022年05月18日
2022年05月18日 - 2022年05月21日 - Epidemiological study of multiple system atrophy in Hokkaido: data from HoRC-MSA project 2014-2021
Matsushima M, Sakushima K, Kanatani Y, Nishimoto N, Sawada J, Matsuoka T, Hisahara S, Uesugi H, Minami N, Sako K, Takei A, Tamakoshi A, Sato N, Sasaki H, Yabe I, Department of Health, Welfare, Hokkaido Government, Sapporo City Public Health Office, HoRC-MSA Study Group
第63回日本神経学会学術大会, 2022年05月18日
2022年05月18日 - 2022年05月21日 - The causative gene for spinocerebellar ataxia can be a risk factor amyotrophic lateral sclerosis
Iwata I, Nomachi R, Mizushima K, Sato S, Kudo A, Abe M, Wakita M, Eguchi K, Shirai S, Matsushima M, Yaguchi H, Yabe I
第63回日本神経学会学術大会
2022年05月18日 - 2022年05月21日 - 成人発症の遺伝性神経・筋疾患における発症前診断に関する全国調査-第2報-
柴田有花, 松島理明, 加藤ももこ, 竹内 恵, 張 香理, 中村勝哉, 織田克利, 吉田邦広, 関島良樹, 戸田達史, 矢部一郎
第63回日本神経学会学術大会
2022年05月18日 - 2022年05月21日 - レセプトデータを用いた脊髄空洞症における移行期医療の実態調査
江口克紀, 白井慎一, 財津將嘉, 小橋 元, 中島健二, 矢部一郎
第63回日本神経学会学術大会
2022年05月18日 - 2022年05月21日 - 免疫介在性小脳失調症における新規自己抗体の検討
工藤彰彦, 矢口裕章, 阿部 恵, 江口克紀, 長井 梓, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 水戸泰紀, 田島康敬, 渡部 昌, 畠山鎮次, 米田 誠, 田中惠子, 矢部一郎
第63回日本神経学会学術大会
2022年05月18日 - 2022年05月21日 - A novel STIM1 variant and the significance of the SAM domain in tubular aggregate myopathy
Nagai A, Yaguchi H, Tanaka D, Fujioka Y, Oba K, Watanabe M, Kondo T, Hatakeyama S, Nishino I, Yabe I
第63回日本神経学会学術大会
2022年05月18日 - 2022年05月21日 - 脊髄小脳失調症1型における遺伝子治療医師主導治験実施にむけて
白井慎一, 矢部一郎, 林 宏至, 手嶋 剛, 浅井克仁, 村松慎一, 岡澤 均
日本小脳学会第12回学術集会・総会, 2022年03月11日 - 神経内科専門医不在地域での患者支援体制における多職種カンファレンスの効果
太田 緑, 村中徹人, 早川真由美, 大腰真弓, 小林真由美, 大塚真由美, 古川典子, 國枝保幸, 矢部一郎
第9回日本難病医療ネットワーク学会学術集会(Web開催)
2021年11月12日 - 2021年11月13日 - アムホテリシンBに治療抵抗性を示し、高用量フルコナゾール投与が奏功したクリプトコッカス髄膜炎の1例
水島慶一, 浦 茂久, 矢部一郎
第39回日本神経治療学会学術集会
2021年10月28日 - 2021年10月30日 - 感覚障害を合併し遠位優位の筋力低下を生じた重症筋無力症の1例
工藤彰彦, 大岩 慧, 白井慎一, 岩田育子, 松島理明, 矢口裕章, 矢部一郎
第39回日本神経治療学会学術集会
2021年10月28日 - 2021年10月30日 - 姿勢推定機械学習モデルを利用した正常圧水頭症患者の歩行ケイデンス定量評価
江口克紀, 白井慎一, 岩田育子, 松島理明, 矢口裕章, 矢部一郎
第39回日本神経治療学会学術集会
2021年10月28日 - 2021年10月30日 - 脊髄小脳変性症の最近の話題
矢部一郎
第39回日本神経治療学会学術集会 マラソンレクチャー, 2021年10月29日 - 免疫介在性小脳性運動失調症における抗Sez6l2抗体の検討
阿部 恵, 矢口裕章, 長井 梓, 白井慎一, 岩田育子, 松島理明, 芦田真士, 笠井高士, 木村暁夫, 下畑亨良, 矢部一郎
第33回日本神経免疫学会学術集会(Web開催)
2021年10月21日 - 2021年10月22日 - 北海道におけるBRCA1/2遺伝学的検査実施状況
箕浦祐子, 高橋將人, 北田正博, 矢部一郎, 櫻井晃洋
日本人類遺伝学会第66回大会 第28回日本遺伝子診療学会大会 合同開催(オンライン開催)
2021年10月13日 - 2021年10月16日 - OncoGuide NCCオンコパネルシステムの改定に伴う二次的所見開示推奨度に関するアンケート調査
小杉眞司, 平沢 晃, 矢部一郎, 多田 寛, 桑田 健, 植木有紗, 織田克利, 平田 真, 東川智美, 久島 周, 金井雅史, 佐藤友紀, 加藤芙美乃, 小川昌宣, 福田博政
日本人類遺伝学会第66回大会 第28回日本遺伝子診療学会大会 合同開催(オンライン参加)
2021年10月13日 - 2021年10月16日 - がん遺伝子パネル検査の受検を契機にLi-Fraumeni症候群と診断されたChompret基準に合致しない小児がんの2例
加藤ももこ, 柴田有花, 寺下友佳代, 杉山未奈子, 菊地順子, 三田村卓, 木下一郎, 真部 淳, 矢部一郎
日本人類遺伝学会第66回大会 第28回日本遺伝子診療学会大会 合同開催(オンライン開催)
2021年10月13日 - 2021年10月16日 - 遺伝性神経・筋疾患の発症前診断に関する現状と課題
柴田有花, 矢部一郎
日本人類遺伝学会第66回大会 第28回日本遺伝子診療学会大会 合同開催 シンポジウム6(オンライン開催), 2021年10月14日 - AIDS治療中に脳梗塞で発症し、原因検索に苦慮した中枢神経局限性血管炎の1例
足澤萌奈美, 江口克紀, 阿部 恵, 岩田育子, 松島理明, 橋本大吾, 杉山 拓, 矢部一郎
第25回日本神経感染症学会総会・学術大会(Web開催)
2021年10月01日 - 2021年10月02日 - 失構音/発語失行を主症状とする進行性非流暢性/失文法性失語(naPPA)例に対する「構音の歪み」の軽減に向けた治療的介入の試み
高倉祐樹, 大槻美佳, 芳野正修, 脇田雅大, 松島理明, 廣谷 真, 矢部一郎
第45回日本神経心理学会学術集会(オンライン開催)
2021年09月30日 - 2021年10月01日 - 非流暢/失文法型原発性進行性失語(naPPA)を呈したPick病
大槻美佳, 谷川 聖, 中川賀嗣, 廣谷 真, 江口克紀, 白井慎一, 岩田育子, 松島理明, 脇田雅大, 芳野正修, 大嶌祐貴, 水島慶, 田中伸哉, 佐々木秀直, 矢部一郎
第45回日本神経心理学会学術集会(オンライン開催)
2021年09月30日 - 2021年10月01日 - Mutation analysis of BSN gene in patients with multiple system atrophy
Wakita M, Nagai A, Yaguchi H, Yabe I
MDS Virtual Congress 2021 of Parkinson's Disease and Movement Disorders, 2021年, 英語
2021年09月17日 - 2021年09月22日 - Elderly-onset ALS sister cases, without known gene mutations
Takahashi-Iwata I, Shirai S, Matsushima M, Yaguchi H, Tanikawa S, Tanaka S, Yabe I
PACTALS (Pan-Asia Consortium for Treatment and Research in ALS) 2021 NAGOYA, 2021年
2021年09月17日 - 2021年09月18日 - Elderly-onset ALS sister cases, without known gene mutations.
Takahashi-Iwata I, Shirai S, Matsushima M, Yaguchi H, Tanikawa S, Tanaka S, Yabe I
PACTALS (Pan-Asia Consortium for Treatment and Research in ALS) 2021 NAGOYA, 英語
2021年09月17日 - 2021年09月18日 - 腫瘍領域における遺伝カウンセリング
矢部一郎
日本消化器病学会北海道支部第21回専門医セミナー(オンライン開催), 2021年09月05日 - 神経変性に関与する新規素因遺伝子BSNの発見
矢部一郎
第140回北大小児科特別集団会(オンライン開催), 2021年08月02日 - 機械学習による歩行動画からのパーキンソン病患者UPDRSスコアの予測
江口克紀, 白井慎一, 松島理明, 加納崇裕, 山崎和義, 濱内祝嗣, 笹森 徹, 関 俊隆, 北川まゆみ, 大槻美佳, 寳金清博, 佐々木秀直, 矢部一郎
第15回パーキンソン病・運動障害疾患コングレス(オンライン参加)
2021年07月01日 - 2021年07月03日 - 頭痛の診断と治療
矢部一郎
北見赤十字病院講演会(オンライン開催), 2021年06月18日 - 研修医セミナー
矢部一郎
市立函館病院 研究医セミナー, 2021年06月09日 - 選択的血漿交換が有効であったdouble soronegative重症筋無力症の一例
布村 菫, 長沼亮滋, 網野 格, 秋本幸子, 宮﨑雄生, 南 尚哉, 新野正明, 今井千恵子, 中瀬秀二, 矢部一郎, 菊地誠志
第62回日本神経学会学術大会(オンライン参加)
2021年05月19日 - 2021年05月22日 - 神経内科専門医不在地域での患者支援体制における多職種カンファレンスの効果
太田 緑, 大腰真弓, 大塚真由美, 小林真由美, 古川典子, 國枝保幸, 矢部一郎
第62回日本神経学会学術大会
2021年05月19日 - 2021年05月22日 - 成人発症の遺伝性神経・筋疾患における発症前診断に関する全国調査
柴田有花, 松島理明, 加藤ももこ, 竹内 恵, 張 香理, 中村勝哉, 織田克利, 吉田邦広, 関島良樹, 戸田達史, 矢部一郎
第62回日本神経学会学術大会(オンライン参加)
2021年05月19日 - 2021年05月22日 - 神経・筋疾患患者を対象とした遺伝カウンセリング効果に関する後方視的検討
加藤ももこ, 柴田有花, 松島理明, 矢部一郎
第62回日本神経学会学術大会
2021年05月19日 - 2021年05月22日 - Changes in brain glucose metabolism after deep brain stimulation in Parkinson's disease
Eguchi K, Shirai S, Matsushima M, Kano T, Yamazaki K, Hamauchi S, Sasamori T, Hirata K, Seki T, Kitagawa M, Otsuki M, Shiga T, Houkin K, Sasaki H, Yabe I
第62回日本神経学会学術大会(オンライン参加)
2021年05月19日 - 2021年05月22日 - 肥厚性硬膜炎13例の後方視的検討
工藤彰彦, 大岩 慧, 瀬尾 祥, 足澤萌奈美, 田中大貴, 阿部 恵, 江口克紀, 長井 梓, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 矢部一郎
第62回日本神経学会学術大会(オンライン参加)
2021年05月19日 - 2021年05月22日 - 非集積地における遺伝性トランスサイレチン型アミロイドーシスの検討
市之川萌奈美, 大岩 慧, 瀬尾 祥, 田中大貴, 工藤彰彦, 阿部 恵, 江口克紀, 長井 梓, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 矢部一郎
第62回日本神経学会学術大会(オンライン参加)
2021年05月19日 - 2021年05月22日 - 非流暢/失文法型原発性進行性失語(naPPA)の発症・症候・検査所見・経過:55名の検討
大槻美佳, 中川祝嗣, 輿水修一, 新保和賢, 緒方昭彦, 水戸泰紀, 田島康敬, 濱田晋輔, 浦 茂久, 岩田育子, 松島理明, 矢部一郎
第62回日本神経学会学術大会(オンライン参加)
2021年05月19日 - 2021年05月22日 - Epidemiological study of multiple system atrophy in Hokkaido: accumulated date from HoRC-MSA project
Matsushima M, Sakushima K, Kanatani Y, Nishimoto N, Matsuoka T, Sawada J, Uesugi H, Sako K, Takei A, Tamakoshi A, Shimohama S, Sato N, Kikuchi S, Sasaki H, Yabe I, Department of Health, Welfare, Hokkaido Government, Sapporo City Public Health Office, HoRC-MSA study group
第62回日本神経学会学術大会(オンライン参加), 2021年05月19日
2021年05月22日 - 神経遺伝学 基礎の基礎
矢部一郎
第62回日本神経学会学術大会 教育コース20, 2021年05月22日 - 脊髄小脳変性症の臨床update
矢部一郎
第18回日本神経学会生涯教育セミナー「レクチャー」(オンライン開催), 2021年05月22日 - Real-world date of autonomic dysfunction in Hokkaido Rare disease Consortium for MSA (HoRC-MSA) Study
Matsushima M, Yabe I, Sasaki H
第62回日本神経学会学術大会(Web参加), 2021年05月21日 - 運動失調症におけるバイオマーカー開発
白井慎一, 矢部一郎, 佐々木秀直
第62回日本神経学会学術大会(Web参加), 2021年05月20日, 日本語 - パーキンソン病における両側STN-DBS後の体重増加と刺激位置との関連についての検討
江口克紀, 矢部一郎, 白井慎一, 松島理明, 加納崇裕, 山崎和義, 濱内祝嗣, 笹森 徹, 関 俊隆, 北川まゆみ, 大槻美佳, 寳金清博, 佐々木秀直
第14回パーキンソン病・運動障害疾患コングレス(オンライン参加)
2021年02月22日 - 2021年02月24日 - 遺伝性神経・筋疾患における発症前診断の現状と今後の課題
矢部一郎
第17回遺伝性難病のケア, 2020年12月06日 - 遺伝性神経・筋疾患における発症前診断の現状と今後の課題
矢部一郎
遺伝性神経・筋疾患における発症前診断の現状と今後の課題, 2020年12月06日 - Correlation Analysis Between Magnetic Susceptibility in MRI and Amyloid β in PET.
Sato R, Kudo K, Yamaguchi A, Udo N, Matsushima M, Yabe I, Sasaki M, Harada M, Matsukawa N, Amemiya T, Kawata Y, Bito Y, Ochi H, Shirai T
Alzheimer's Association International Conference 2020, 2020年07月, 英語
2020年07月26日 - 2020年07月30日 - Correlation Analysis Between Magnetic Susceptibility in MRI and Amyloid β in PET
Sato R, Kudo K, Yamaguchi A, Udo N, Matsushima M, Yabe I, Sasaki M, Harada M, Matsukawa N, Amemiya T, Kawata Y, Bito Y, Ochi H, Shirai T
Alzheimer's Association International Conference 2020, 2020年, 英語
2020年07月26日 - 2020年07月30日 - がん遺伝子パネル検査の受検者における二次的所見に関する意思決定要因の考察
加藤ももこ, 柴田有花, 平舘ありさ, 安藤亜希子, 菊地順子, 木下一郎, 秋田弘俊, 矢部一郎
第44回日本遺伝カウンセリング学会学術集会(Web開催), 日本語, ポスター発表
2020年07月03日 - 2020年07月05日 - 臨床像が異なる副腎白室ジストロフィーの同胞をもつ女性に対する保因者診断の経験
柴田有花, 松島理明, 加藤ももこ, 松川敬志, 石浦浩之, 辻省次, 矢部一郎
第44回日本遺伝カウンセリング学会学術集会(Web開催), 日本語, ポスター発表
2020年07月03日 - 2020年07月05日 - 非集積地の遺伝性トランスサイレチン型アミロイドーシスにおける治療選択と家族への影響
松島理明, 柴田有花, 加藤ももこ, 矢部一郎
第44回日本遺伝カウンセリング学会学術集会(Web開催), 日本語, ポスター発表
2020年07月03日 - 2020年07月05日 - がん遺伝子パネル検査の二次的所見の開示希望に関わる因子の検討~北海道大学での症例をもとに~
吉岡正博, 山田崇弘, 柴田有花, 近藤知大, 林秀幸, 西原広史, 矢部一郎, 秋田弘俊, 武藤学, 木下一郎, 小杉真司
第44回日本遺伝カウンセリング学会学術集会(Web開催), 日本語, ポスター発表
2020年07月03日 - 2020年07月05日 - Mechanism of conserved ancestral haplotype in SCA10
McFarland K, Tiwari A, Hashem V, Zhang L, Zeng D, Holt J, Vincent J, Astudillo M, Cherches A, Aredondo M, William G. Farmerie, Tsai YC, Tyson A. Clark, She-Rui Gan, Takahashi T, Yabe I, Schüle B, Rasmussen A, Helio Teive, Ashizawa T
Ataxia Investigator Meeting, 2020年, 英語
2020年03月03日 - 2020年03月06日 - Genetic aspects of typical and atypical tauopathy
Yabe I
60st Annual Meeting of Japanese Neurological Association, 2020年 - 遺伝性神経筋疾患の診療と研究
矢部一郎
遺伝性神経筋疾患研究会 in Gifu, 2019年12月19日 - 日本神経学会学術大会での遺伝カウンセリング教育コースの開催経験
竹内千仙, 西郷和真, 矢部一郎, 石浦浩之, 松川敬志, 神原容子, 池川敦子, 柴田有花, 張香理, 吉田邦広
日本人類遺伝学会第64回大会, 2019年11月08日, 日本語, ポスター発表
2019年11月06日 - 2019年11月09日 - 92歳で診断された遺伝性圧脆弱性ニューロパチー(HNPP)の1例
越智龍太郎, 水島慶一, 長沼亮滋, 外山祐一郎, 津田笑子, 保月隆良, 菊池進, 矢部一郎, 久原真, 下濱俊
日本人類遺伝学会第64回大会, 2019年11月07日, 日本語, ポスター発表
2019年11月06日 - 2019年11月09日 - ステロイド,免疫グロブリン静注療法が著効したシェーグレン症候群に伴う自己免疫性自律神経節障害の1例
江口克紀, 脇田雅大, 白井慎一, 岩田育子, 松島理明, 矢部一郎, 佐々木秀直
第37回日本神経治療学会学術集会, 2019年11月06日, 日本語, ポスター発表
2019年11月05日 - 2019年11月07日 - 遺伝性脊髄小脳変性症と多系統萎縮症
矢部一郎
第37回日本神経治療学会学術集会, 2019年11月06日, 日本語, その他
2019年11月05日 - 2019年11月07日 - Epidemiological study of multiple system atrophy: data from HoRC-MSA Project 2014-2019
Matsushima M, Sakushima K, Yabe I, Iwata I, Kanatani Y, Nishimoto N, Matsuoka T, Sawada J, Katayama T, Uesugi H, Sako K, Takei A, Tamakoshi A, Shimohama S, Sato N, Kikuchi S, Sasaki H
23rd International Congress of Parkinson’s Disease and Movement Disorders, 2019年, 英語, ポスター発表
2019年09月22日 - 2019年09月26日 - Quantitative evaluation of gait ataxia of Multiple System Atrophy patients
Sato C, SHirai S, Matsushima M, Yabe I, Sasaki H
23rd International Congress of Parkinson's Disease and Movement Disorders, 英語, ポスター発表
2019年09月22日 - 2019年09月26日 - 遺伝性神経筋疾患の診療と研究
矢部一郎
第20回北海道神経変性疾患研究会 特別講演1, 2019年09月13日 - Bassoon遺伝子変異は一部のタウオパチー発症に関与する
矢部一郎
第33回老年期認知症研究会, 2019年07月27日 - 脊椎疾患と鑑別が必要な神経疾患
矢部一郎
北大脊椎脊髄外科セミナー2019, 2019年07月20日 - 脊髄空洞症に関する最近の話題
矢部一郎
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