Oct. 2024, 北海道医師会, 令和6年度北海道知事賞　　　　　　　　　　　　　　　
脳神経内科領域における臨床遺伝学的研究
矢部一郎

Oct. 2024, 北海道医師会, 令和6年度北海道医師賞　　　　　　　　　　　　　　　
脳神経内科領域における臨床遺伝学的研究
矢部一郎

Mar. 2022, 北海道大学大学院医学研究院, 令和3年度北海道大学大学院医学研究院・大学院医学院・医学部医学科「優秀研究賞」　　　　　　　　　　　　　　　
矢部一郎

Jun. 2013, Hokkaido University School of Medicine, 平成24年度北海道大学医学部優秀教員賞　　　　　　　　　　　　　　　
Ichiro Yabe

本邦における成人発症の遺伝性神経・筋疾患の発症前検査に関する手引きとその作成経緯　　　　　　　　　　　　　　　
柴田有花,張 香理,中村勝哉,山田晋一郎,松島理明,西郷和真,石浦浩之,関島良樹,丸山博文,池内 健,長谷川一子,青木正志,勝野雅央,戸田達史,矢部一郎,日本神経学会遺伝医療に関する課題対策委員会
臨床神経学, 65, 2, 101, 107, Feb. 2025, [Peer-reviewed]
Japanese, Scientific journal

Gait Video–Based Prediction of Severity of Cerebellar Ataxia Using Deep Neural Networks
Eguchi K, Yaguchi H, Uwatoko H, Iida Y, Hamada S, Honma S, Takei A, Moriwaka F, Yabe I
Movement Disorders, 40, 4, 752, 758, Wiley, 22 Jan. 2025, [Peer-reviewed], [Last author]
English, Scientific journal, Abstract

Background

Pose estimation algorithms applied to two‐dimensional videos evaluate gait disturbances; however, a few studies have used this method to evaluate ataxic gait.

Objective

The aim was to assess whether a pose estimation algorithm can predict the severity of cerebellar ataxia by applying it to gait videos.

Methods

We video‐recorded 66 patients with degenerative cerebellar diseases performing the timed up‐and‐go test. Key points from the gait videos extracted by a pose estimation algorithm were input into a deep learning model to predict the Scale for the Assessment and Rating of Ataxia (SARA) score. We also evaluated video segments that the model focused on to predict ataxia severity.

Results

The model achieved a root‐mean‐square error of 2.30 and a coefficient of determination of 0.79 in predicting the SARA score. It primarily focused on standing, turning, and body sway to assess severity.

Conclusions

This study demonstrated that the model may capture gait characteristics from key‐point data and has the potential to predict SARA scores. © 2025 International Parkinson and Movement Disorder Society.

Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan
Yuka Shibata, Hyangri Chang, Katsuya Nakamura, Shinichiro Yamada, Masaaki Matsushima, Kazumasa Saigoh, Hiroyuki Ishiura, Yoshiki Sekijima, Hirofumi Maruyama, Takeshi Ikeuchi, Kazuko Hasegawa, Masashi Aoki, Masahisa Katsuno, Tatsushi Toda, Ichiro Yabe
Rinsho Shinkeigaku, Societas Neurologica Japonica, 2025
Scientific journal

Three cases of multiple sclerosis presenting with palmoplantar pustulosis while receiving ofatumumab
Nomura T, Muramatsu K, Yaguchi H, Uwatoko H, Kawashima A, Izumi K, Ujiie H, Fukazawa T, Yabe I
Journal of the Neurological Sciences, 467, 123315, 123315, Elsevier BV, Dec. 2024, [Peer-reviewed], [Last author, Corresponding author]
English, Scientific journal

各地における成人移行支援の取り組み：移行期医療支援センターの活動　　　　　　　　　　　　　　　
望月葉子,尾方克久,熊田聡子,今井富裕,赤星千加子,日根野晃代,北原理恵,矢部一郎,望月秀樹,日本神経学会小児-成人移行医療対策特別委員会,日本難病医療ネットワーク学会小児-成人移行医療特別委員会
臨床神経学, 64, 12, 861, 865, Dec. 2024, [Peer-reviewed]
Japanese, Scientific journal

筋ジストロフィー（筋強直性ジストロフィー，ジストロフィン異常症）　　　　　　　　　　　　　　　
松島理明,矢部一郎
遺伝子医学, 14, 4, 3, 5, Dec. 2024, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, Nov. 2024, [International Magazine]
English, Scientific journal

The Movement Disorder Society Criteria: Its Clinical Usefulness in Multiple System Atrophy
Tarisawa M, Matsushima M, Kudo A, 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, Ichiro Yabe I, HoRC-MSA Study Group
Internal Medicine, 63, 21, 2903, 2912, Japanese Society of Internal Medicine, 01 Nov. 2024, [Peer-reviewed], [Domestic magazines]
English, Scientific journal, 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
Wakita M, Yaguchi H, Otuski M, Tanikawa S, Miki Y, Aiba I, Yoshida M, Nomura T, Uwatoko H, Mito Y, Sinpo K, Ikeuchi T, Tanaka S, Wakabayashi K, Yabe I
Neuropathology, 45, 2, 140, 152, Wiley, 31 Oct. 2024, [Peer-reviewed], [Last author, Corresponding author]
English, Scientific journal, 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
Nonaka T, Ae R, Kosami K, Tange H, Kaneko M, Nakagaki T, Hamaguchi T, Sanjo N, Nakamura Y, Kitamoto T, Kuroiwa Y, Kasuga K, Doyu M, Tanaka F, Abe K, Murayama S, Yabe I, Mochizuki H, Matsushita T, Murai H, Aoki M, Fujita K, Harada M, Takao M, Tsukamoto T, Iwasaki Y, Yamada M, Mizusawa H, Satoh K, Nishida N
Diagnostics, 14, 21, 2424, 2424, MDPI AG, 30 Oct. 2024, [Peer-reviewed]
English, Scientific journal, 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, Oct. 2024
Japanese

Nonspecific inflammatory pseudotumor of the maxillary and temporal fossa: a study of seven cases
Kakuguchi W, Ashikaga Y, Moritani Y, Nakano S, Ogawa N, Yoshitatsu R, Yanagawa-Matsuda A, Maishi N, Kudo A, Okazaki N, Nakamaru Y, Yabe I, Matsuno Y, Ohiro Y
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 138, 4, 494, 501, Elsevier BV, Oct. 2024, [Peer-reviewed]
English, Scientific journal

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, 28 Sep. 2024
English, Scientific journal

Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy
Shimada S, Yamada T, Minamoto A, Matsukawa M, Yabe I, Tada H, Oda K, Ueki A, Higashigawa S, Morikawa M, Sato Y, Hirasawa A, Ogawa M, Kondo T, Yoshioka M, Kanai M, Muto M, Kosugi S
Journal of Human Genetics, 70, 1, 33, 40, Springer Science and Business Media LLC, 17 Sep. 2024, [Peer-reviewed]
English, Scientific journal

CAG Repeat Expansion in THAP11 Is Not Detected in a Cohort with Spinocerebellar Ataxia from Hokkaido, the Northernmost Island of Japan
Shirai S., Mizushima K., Shibata Y., Matsushima M., Iwata I., Yaguchi H., Yabe I.
Movement Disorders, 39, 9, 1657, 1658, Wiley, 17 Sep. 2024, [Peer-reviewed], [Last author, Corresponding author]
English, Scientific journal

Feasibility of differentiating gait in Parkinson's disease and spinocerebellar degeneration using a pose estimation algorithm in two-dimensional video
Eguchi K, Yaguchi H, Uwatoko H, Iida Y, Hamada S, Honma S, Takei A, Moriwaka F, Yabe I
Journal of the Neurological Sciences, 464, 123158, 123158, Elsevier BV, Sep. 2024, [Peer-reviewed], [Last author], [International Magazine]
English, Scientific journal, 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.

軟骨無形成症児の保護者/家族が抱える問題とその支援に関する検討：質的研究の統合　　　　　　　　　　　　　　　
佐々木佑菜,柴田有花,向中野実央,松島理明,矢部一郎,山田崇弘
遺伝子医学, 14, 3, 108, 117, Aug. 2024, [Peer-reviewed]
Japanese, Scientific journal

Behavioral and histological analyses of the mouse Bassoon p.P3882A mutation corresponding to the human BSN p.P3866A mutation
Tanaka D, Yaguchi H, Yoshizaki K, Kudo A, Mori F, Nomura T, Pan J, Miki Y, Takahashi H, Hara T, Wakabayashi K, Yabe I
Frontiers in Neuroscience, 18, 1414145, 1414145, Frontiers Media SA, 26 Jul. 2024, [Peer-reviewed], [Last author, Corresponding author], [International Magazine]
English, Scientific journal, 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
Sakurai K, Tokumaru AM, Yoshida M, Saito Y, Wakabayashi K, Komori T, Hasegawa M, Ikeuchi T, Hayashi Y, Shimohata T, Murayama S, Iwasaki Y, Uchihara T, Sakai M, Yabe I, et al
Neuroradiology, 66, 11, 1917, 1929, Springer Science and Business Media LLC, 22 Jul. 2024, [Peer-reviewed]
English, Scientific journal, 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.

球脊髄性筋萎縮症　　　　　　　　　　　　　　　
松島理明,白井慎一,矢部一郎
遺伝子医学, 14, 3, 3, 4, Jul. 2024, [Peer-reviewed], [Last author]
Japanese, Scientific journal

Extended haplotype with rs41524547-G defines the ancestral origin of SCA10
McFarland KN, Tiwari A., Hashem V., Zhang L., Zeng D., Vincent J., Arredondo MJ, Johnson KL, Gan SR, Yabe I., Skov L., Rasmussen A., Ashizawa T.
Human Molecular Genetics, 33, 18, 1567, 1574, Oxford University Press (OUP), 04 Jun. 2024, [Peer-reviewed]
English, Scientific journal, 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.

Triplet repeat disease (Huntington disease, Dentatorubral-Pallidoluysian atrophy)
松島理明, 矢部一郎
遺伝子医学, 14, 2, 3, 4, Jun. 2024, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, Jun. 2024
Japanese

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, Jun. 2024
Japanese

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, Jun. 2024
Japanese

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, Jun. 2024
Japanese

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, Jun. 2024, [Peer-reviewed], [Last author]
Japanese, Scientific journal

Complete nanopore repeat sequencing of SCA27B (GAA-FGF14ataxia) in Japanese
Miyatake S, Doi H, Yaguchi H, Koshimizu E, Kihara N, Matsubara T, Mori Y, Kunieda K, Shimizu Y, Toyota T, Shirai S, Matsushima M, Okubo M, Wada T, Kunii M, Johkura K, Miyamoto R, Osaki Y, Miyama T, Satoh M, Fujita A, Uchiyama Y, Tsuchida N, Misawa K, Hamanaka K, Hamanoue H, Mizuguchi T, Morino H, Izumi Y, Shimohata T, Yoshida K, Adachi H, Tanaka F, Yabe I, Matsumoto N
Journal of Neurology, Neurosurgery, and Psychiatry, 95, 12, 1187, 1195, BMJ, 30 May 2024, [Peer-reviewed], [Last author, Corresponding author], [International Magazine]
English, Scientific journal, 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, 01 May 2024
English, Scientific journal

Intracerebral transplantation of MRI-trackable autologous bone marrow stromal cells for patients with subacute ischemic stroke
Kawabori M, Kuroda S, Shichinohe H, Kahata K, Shiratori S, Ikeda S, Harada T, Hirata K, Tha KK, Aragaki M, Terasaka S, Ito YM, Nishimoto N, Ohnishi S, Yabe I, Kudo K, Houkin K, Fujimura M
Med, 5, 5, 432, 444.e4, Elsevier BV, May 2024, [Peer-reviewed]
English, Scientific journal

Lambert-Eaton Myasthenic Syndrome Complicated by Anti-GABA_B 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, 01 May 2024, [Domestic magazines]
English, Scientific journal, 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
Shirai S, Mizushima K, Shibata Y, Matsushima M, Iwata I, Yaguchi H, Yabe I
Journal of the Neurological Sciences, 460, 122974, 122974, Elsevier BV, May 2024, [Peer-reviewed], [Last author, Corresponding author], [International Magazine]
English, Scientific journal

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, 13 Apr. 2024
Scientific journal

Expert teleconsultation involving patients and their primary neurologists for the management of multiple sclerosis in regions without specialists
Miyazaki Y, Ura S, Horiuchi K, Matsuoka T, Houzen H, Tsuzaka K, Makino Y, Koshida M, Oyama G, Sato C, Naganuma R, Amino I, Akimoto S, Niino M, Minami N, Takahashi E, Ota S, Hattori N, Yabe I, Kikuchi S
Clinical and Experimental Neuroimmunology, 15, 4, 158, 163, Wiley, 10 Apr. 2024, [Peer-reviewed]
English, Scientific journal, Abstract

Objective

This study aimed to describe the usefulness of our teleconsultation system for managing multiple sclerosis (MS) in regions without specialists.

Methods

A cross‐sectional questionnaire survey involving 11 MS patients and their primary neurologists was carried out between May and December 2023. Real‐time video conferences were conducted between an MS specialist at a hub hospital and patients with their primary neurologists at one of the four regional core hospitals in Hokkaido, Japan. Patients and their primary neurologists completed questionnaires to evaluate the usefulness of the teleconsultation system.

Results

The patients and their primary neurologists were generally satisfied with the teleconsultations and expressed willingness to continue using the system. In particular, alleviating the burden of visiting distant MS‐specialized clinics was highly appreciated by patients. In addition, patients gave high scores for questions regarding increased satisfaction with the primary neurologists' care and the treatments they offered. The primary neurologists thought the system enhanced their knowledge of MS management. However, they did not think that the system could ease their burden for managing MS patients because of challenges in time allocation and scheduling for teleconsultation sessions.

Conclusions

The present study suggested that our expert teleconsultation system for MS reduces the burden on patients of visiting distant MS‐specialized clinics, and enhances knowledge of MS management for the primary neurologists. It also promotes trust between patients and their primary neurologists, and taken together, these aspects could collectively lead to independent and sustainable MS management in regions without MS specialists.

Dynamic molecular network analysis of iPSC-Purkinje cells differentiation delineates roles of ISG15 in SCA1 at the earliest stage
Homma H, Yoshioka Y, Fujita K, Shirai S, Hama Y, Komano H, Saito Y, Yabe I, Okano H, Sasaki H, Tanaka H, Okazawa H
Communications Biology, 7, 1, 413, 413, Springer Science and Business Media LLC, 09 Apr. 2024, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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.

The Japan MSA registry: A multicenter cohort study of multiple system atrophy
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
Neurology and Clinical Neuroscience, 12, 5, 271, 277, Wiley, 29 Mar. 2024, [Peer-reviewed]
English, Scientific journal, Abstract

Background

Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure and various motor symptoms. While MSA‐C (cerebellar type) predominates in East Asia, MSA‐P (parkinsonian type) predominates in Europe and North America. This nationwide patient registry aimed to (1) conduct a prospective natural history study of MSA in Japan, (2) facilitate patient recruitment for clinical trials, and (3) deposit bioresources and clinical information in a biobank.

Methods

Thirteen institutions participated in this study. Clinical information was obtained by neurologists from the patients visiting the hospital every 12 months to assess the UMSARS Part 2 scores and by telephone interviews by nurses every 6 months to assess UMSARS Part 1 scores and to determine whether clinical events had occurred.

Results

Demographic data from 329 MSA patients (216 MSA‐C and 113 MSA‐P) were analyzed. The mean age at symptom onset was 58.2 years (standard deviation, 8.9); the mean duration of symptoms at enrollment was 3.5 years (standard deviation, 2.2). The mean 12‐month changes in the UMSARS Part 1 and Part 2 scores were 7.9 (standard deviation, 5.6) and 6.4 (standard deviation, 5.9), respectively. The patient registry proved useful in recruiting participants for clinical trials, including those with gene variants. Clinical information and biospecimens were deposited in a biobank.

Discussion

The study highlighted the importance of telephone interviews in minimizing drop‐out rates in natural history studies and demonstrated similar MSA progression rates across populations. The deposited bioresources are available to researchers upon request, aiming to contribute to future MSA researches.

FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients
Matsushima M, Yaguchi H, Koshimizu E, Kudo A, Shirai S, Matsuoka T, Ura S, Kawashima A, Fukazawa T, Miyatake S, Matsumoto N, Yabe I
Journal of Neurology, 271, 6, 3643, 3647, Springer Science and Business Media LLC, 12 Mar. 2024, [Peer-reviewed], [Last author, Corresponding author], [International Magazine]
English, Scientific journal

遺伝性脊髄小脳変性症の臨床における最近の進歩　　　　　　　　　　　　　　　
矢部一郎
臨床神経学, 64, 3, 135, 147, Mar. 2024, [Peer-reviewed], [Lead author]
Japanese, Scientific journal

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, Mar. 2024
Japanese

Roles of the cerebellum and basal ganglia in temporal integration: Insights from a synchronized tapping task
Tokushige SI, Matsuda S, Tada M, Yabe I, Takeda A, Tanaka H, Hatakenaka M, Enomoto H, Kobayashi S, Shimizu K, Shimizu T, Kotsuki N, Inomata-Terada S, Furubayashi T, Ichikawa Y, Hanajima R, Tsuji S, Ugawa Y, Terao Y
Clinical Neurophysiology, 158, 1, 15, Elsevier BV, Feb. 2024, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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
Matsushima M, Nagai A, Nomachi R, Kudo A, Eguchi K, Wakita M, Shirai S, Iwata I, Horiuchi K, Matsuoka T, Ura S, Houzen H, Yabe I
Clinical Neurology and Neurosurgery, 237, 108147, 108147, Elsevier BV, Feb. 2024, [Peer-reviewed], [Last author]
English, Scientific journal

Survey of medications for myelomeningocele patients over their lifetime in Japan
Isozaki H, Nonaka M, Komori Y, Ueno K, Iwamura H, Miyata M, Yamamura N, Li Y, Takeda J, Nonaka Y, Yabe I, Zaitsu M, Nakashima K, Asai A
Brain and Development, 46, 1, 18, 27, Elsevier BV, Jan. 2024, [Peer-reviewed]
English, Scientific journal

自己免疫性脳炎の診断基準を満たすミエリンオリゴデンドロサイト糖蛋白抗体関連疾患の3例の臨床的特徴
大嶌祐貴,上床 尚,矢口裕章,岩田育子,金子仁彦,高橋利幸,田中惠子,浦 茂久,藤原一男,矢部一郎
神経治療学, 41, 1, 64, 68, (一社)日本神経治療学会, Jan. 2024, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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
English

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
English

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
English

Pembrolizumab-induced immune-related bilateral vocal cord paralysis　　　　　　　　　　　　　　　
Nomura T, Iwata I, Kimura S, Yabe I (corresponding author)
Intern Med, 2024
English

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 K
Health Services Insights, 17, 11786329241299312, 8, SAGE Publications, Jan. 2024, [Peer-reviewed]
English, Scientific journal, Introduction:

Alzheimer disease (AD) is the most common type of dementia, affecting 70% of patients with dementia. In Japan, over 5 million people aged 65 years and older had dementia in 2018, and this figure is expected to rise to 25% to 30% of this age group by 2045. In Japan, lecanemab, which was approved in 2023, is expected to be a new treatment for AD. However, lecanemab requires stringent management, including amyloid PET scans and MRI monitoring, necessitating specialized facilities, creating concerns regarding the lack of treatment facilities and poor treatment access.

Methods:

This study assessed spatial accessibility to lecanemab in Hokkaido, Japan, using geographic information system data. Hospitals were categorized into 3 scenarios based on their capacity to meet the treatment criteria. Service area analysis in each scenario evaluated the population coverage within 30-, 60-, and 120-minute travel times. The inverted two-step floating catchment area method was used to calculate the potential high-demand areas index (PHDI) for each hospital.

Results:

Population coverage ranged from 56% to 97%, depending on the scenario and travel time. Coverage for the most feasible scenario (Scenario 1) was 56%, 73.9%, and 88.3% within 30, 60, and 120 minutes, respectively. Northern and southern Hokkaido had the lowest coverage. PHDI analysis identified high-demand areas, with Sapporo facing potential overcapacity issues.

Conclusion:

Lecanemab highlights the need for strategic resource allocation to enhance accessibility and capacity. Establishing additional treatment centers, particularly in areas with poor accessibility and capacity, is crucial to maximize the benefits of treatment for dementia.

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
English

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, Jan. 2024
Japanese

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, Jan. 2024, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, [Domestic magazines]
English, Scientific journal, 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.

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
日本遺伝カウンセリング学会誌, 44, 12, 189, 192, Dec. 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

脳神経内科学領域の臨床てんかん学における最新の話題-てんかんと自己免疫性脳炎-　　　　　　　　　　　　　　　
野村太一,矢口裕章,矢部一郎
てんかんをめぐって, 40, 46, 57, Dec. 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

Differentiation of speech in Parkinson’s disease and spinocerebellar degeneration using deep neural networks
Eguchi K, Yaguchi H, Kudo I, Kimura I, Nabekura T, Kumagai R, Fujita K, Nakashiro Y, Iida Y, Hamada S, Honma S, Takei A, Moriwaka F, Yabe I
Journal of Neurology, 271, 2, 1004, 1012, Springer Science and Business Media LLC, 21 Nov. 2023, [Peer-reviewed], [Last author], [International Magazine]
Japanese, Scientific journal, 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.

Clinical course of pathologically confirmed corticobasal degeneration and corticobasal syndrome
Aiba I, Hayashi Y, Shimohata T, Yoshida M, Saito Y, Wakabayashi K, Komori T, Hasegawa M, Ikeuchi T, Tokumaru AM, Sakurai K, Murayama S, Hasegawa K, Uchihara T, Toyoshima Y, Saito Y, Yabe I, et al
Brain Communications, 5, 6, fcad296, Oxford University Press (OUP), 01 Nov. 2023, [Peer-reviewed]
English, Scientific journal, Abstract

The clinical presentation of corticobasal degeneration is diverse, while the background pathology of corticobasal syndrome is also heterogeneous. Therefore, predicting the pathological background of corticobasal syndrome is extremely difficult. Herein, we investigated the clinical findings and course in patients with pathologically, genetically and biochemically verified corticobasal degeneration and corticobasal syndrome with background pathology to determine findings suggestive of background disorder. Thirty-two patients were identified as having corticobasal degeneration. The median intervals from the initial symptoms to the onset of key milestones were as follows: gait disturbance, 0.0 year; behavioural changes, 1.0 year; falls, 2.0 years; cognitive impairment, 2.0 years; speech impairment, 2.5 years; supranuclear gaze palsy, 3.0 years; urinary incontinence, 3.0 years; and dysphagia, 5.0 years. The median survival time was 7.0 years; 50% of corticobasal degeneration was diagnosed as corticobasal degeneration/corticobasal syndrome at the final presentation. Background pathologies of corticobasal syndrome (n = 48) included corticobasal degeneration (33.3%), progressive supranuclear palsy (29.2%) and Alzheimer’s disease (12.5%). The common course of corticobasal syndrome was initial gait disturbance and early fall. In addition, corticobasal degeneration–corticobasal syndrome manifested behavioural change (2.5 years) and cognitive impairment (3.0 years), as the patient with progressive supranuclear palsy–corticobasal syndrome developed speech impairment (1.0 years) and supranuclear gaze palsy (6.0 years). The Alzheimer’s disease–corticobasal syndrome patients showed cognitive impairment (1.0 years). The frequency of frozen gait at onset was higher in the corticobasal degeneration–corticobasal syndrome group than in the progressive supranuclear palsy–corticobasal syndrome group [P = 0.005, odds ratio (95% confidence interval): 31.67 (1.46–685.34)]. Dysarthria at presentation was higher in progressive supranuclear palsy–corticobasal syndrome than in corticobasal degeneration–corticobasal syndrome [P = 0.047, 6.75 (1.16–39.20)]. Pyramidal sign at presentation and personality change during the entire course were higher in Alzheimer’s disease–corticobasal syndrome than in progressive supranuclear palsy–corticobasal syndrome [P = 0.011, 27.44 (1.25–601.61), and P = 0.013, 40.00 (1.98–807.14), respectively]. In corticobasal syndrome, decision tree analysis revealed that ‘freezing at onset’ or ‘no dysarthria at presentation and age at onset under 66 years in the case without freezing at onset’ predicted corticobasal degeneration pathology with a sensitivity of 81.3% and specificity of 84.4%. ‘Dysarthria at presentation and age at onset over 61 years’ suggested progressive supranuclear palsy pathology, and ‘pyramidal sign at presentation and personality change during the entire course’ implied Alzheimer’s disease pathology. In conclusion, frozen gait at onset, dysarthria, personality change and pyramidal signs may be useful clinical signs for predicting background pathologies in corticobasal syndrome.

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, Nov. 2023
Japanese

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, Nov. 2023
Japanese

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, Nov. 2023
Japanese

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, Nov. 2023
Japanese

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, Nov. 2023
Japanese

Case series: Downbeat nystagmus in SCA27B
Shirai S, Mizushima K, Fujiwara K, Koshimizu E, Matsushima M, Miyatake S, Iwata I, Yaguchi H, Matsumoto N, Yabe I
Journal of the Neurological Sciences, 454, 120849, 120849, Elsevier BV, Nov. 2023, [Peer-reviewed], [Last author, Corresponding author], [International Magazine]
English, Scientific journal, 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.

Prediction of amyloid positron emission tomography positivity using multiple regression analysis of quantitative susceptibility mapping
Ikebe Y, Sato R, Amemiya T, Udo N, Matsushima M, Yabe I, Yamaguchi A, Sasaki M, Harada M, Matsukawa N, Kawata Y, Bito Y, Shirai T, Ochi H, Kudo K
Magnetic Resonance Imaging, 103, 192, 197, Elsevier BV, Nov. 2023, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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.

Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan
Mizushima K, Shibata Y, Shirai S, Matsushima M, Miyatake S, Iwata I, Yaguchi H, Matsumoto N, Yabe I
Journal of Human Genetics, 69, 1, 27, 31, Springer Science and Business Media LLC, 17 Oct. 2023, [Peer-reviewed], [Last author, Corresponding author], [International Magazine]
English, Scientific journal, 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
Eguchi K, Takigawa I, Shirai S, Takahashi-Iwata I, Matsushima M, Kano T, Yaguchi H, Yabe I
BMC Neurology, 23, 1, 358, 358, Springer Science and Business Media LLC, 05 Oct. 2023, [Peer-reviewed], [Last author], [International Magazine]
English, Scientific journal, Abstract

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, theR²values 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.

Seizure-related 6 homolog like 2 (Sez6l2) 抗体関連自己免疫性小脳失調症の1例　　　　　　　　　　　　　　　
松山友美,佐竹真理恵,阿部 恵,矢口裕章,矢部一郎
臨床神経学, 63, 10, 665, 671, Oct. 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

【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, Oct. 2023
Japanese

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, Oct. 2023
Japanese

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, Oct. 2023
Japanese

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, Oct. 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, Oct. 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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,柴田有花
日本頭痛学会誌, 50, 1, 126, 130, Sep. 2023, [Peer-reviewed], [Lead author]
Japanese, Scientific journal

【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, Sep. 2023
Japanese

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, Sep. 2023
Japanese

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, Sep. 2023
Japanese

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, Sep. 2023
Japanese

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, Sep. 2023
Japanese

脊髄小脳変性症・多系統萎縮症
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, Sep. 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, Sep. 2023
Japanese

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, Sep. 2023
Japanese

A retrospective study of autoimmune cerebellar ataxia over a 20-year period in a single institution
Kudo A, Yaguchi H, Tanaka K, Kimura A, Yabe I
Journal of Neurology, 271, 1, 553, 563, Springer Science and Business Media LLC, 23 Aug. 2023, [Peer-reviewed], [Last author, Corresponding author], [International Magazine]
English, Scientific journal, 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.

自己免疫性小脳失調症の自己抗体検査　　　　　　　　　　　　　　　
矢口裕章,矢部一郎
Clinical Neuroscience, 41, 8, 1100, 1101, Aug. 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, Aug. 2023
Japanese

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, 1410, (一社)日本内科学会, Aug. 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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), Jul. 2023
Japanese

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, Jul. 2023
Japanese

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, Jul. 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, Jul. 2023
Japanese

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, Jul. 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, Jul. 2023
Japanese

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), Jul. 2023
Japanese

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, Jul. 2023
Japanese

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, Jun. 2023
Japanese

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, Ueda Y, Egawa K, Shiraishi H, Yabe I
Journal of the Neurological Sciences, 449, 120671, 120671, Elsevier BV, Jun. 2023, [Peer-reviewed], [Last author], [International Magazine]
English, Scientific journal

Sez6l2 autoimmunity in a large cohort study
Abe M, Yaguchi H, Kudo A, Nagai A, Shirai S, Takahashi-Iwata I, Matsushima M, Nakamura N, Isahaya K, Yamano Y, Ashida S, Kasai T, Tanaka K, Watanabe M, Kondo T, Takahashi H, Hatakeyama S, Takekoshi A, Kimura A, Shimohata T, Yabe I
Journal of Neurology, Neurosurgery & Psychiatry, 94, 8, 667, 668, BMJ, 01 Jun. 2023, [Peer-reviewed], [Last author, Corresponding author], [International Magazine]
English, Scientific journal

Practice of Hereditary ATTR Amyloidosis in Non-endemic Areas of Japan
Matsushima M, Tarisawa M, Nomura T, Oshima Y, Yoshino M, Shibata Y, Wakita M, Shirai S, Iwata I, Yaguchi H, Yabe I
Internal Medicine, 62, 11, 1599, 1602, Japanese Society of Internal Medicine, 01 Jun. 2023, [Peer-reviewed], [Last author], [Domestic magazines]
English, Scientific journal, Objective Hereditary ATTR (ATTRv) amyloidosis was once an incurable disease; however, in recent years, disease-modifying therapies, such as tafamidis and patisiran, have become available. We herein report the medical care situation in an ATTRv amyloidosis non-endemic area of Japan. Methods We confirmed the information in the medical records of our department and analyzed the data retrospectively. Patients Patients with ATTRv amyloidosis who were treated in our department between 2010 and 2021 were included. Results A total of 15 ATTRv amyloidosis cases (8 men and 7 women) were treated in our department during the study period; 9 patients had a family history, and the transthyretin V30M (p.V50M) gene mutation was present in 66% of cases. The average age of the onset was 57 years old, with 73% of the initial symptoms being dysesthesia and 13% being autonomic dysfunction. Ten patients were treated with tafamidis and nine with patisiran. Although it took a long time to start treatment among our experienced cases, there were some cases in which treatment could be introduced relatively early. Conclusion ATTRv amyloidosis is treatable and should be included in the differential diagnosis of neuropathy so that it can be diagnosed early and introduced into treatment. In the near future, the presymptomatic diagnosis of ATTRv amyloidosis and genetic counseling will become more important.

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 KC, Hatanaka Y, Mitamura T, Yabe I, Matsuno Y, Manabe A, Sakurai A, Ishiguro A, Takahashi M, Yokouchi H, Naruse H, Mizukami Y, Dosaka‐Akita H, Kinoshita I
Cancer Science, 114, 8, 3385, 3395, Wiley, 19 May 2023, [Peer-reviewed], [International Magazine]
English, Scientific journal, Abstract

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.

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
Journal of Neurology, Neurosurgery, and Psychiatry, 94, 10, 816, 824, BMJ, 04 May 2023, [Peer-reviewed]
English, Scientific journal, Background

Several genetic factors are associated with the pathogenesis of sporadic amyotrophic lateral sclerosis (ALS) and its phenotypes, such as disease progression. Here, in this study, we aimed to identify the genes that affect the survival of patients with sporadic ALS.

Methods

We enrolled 1076 Japanese patients with sporadic ALS with imputed genotype data of 7 908 526 variants. We used Cox proportional hazards regression analysis with an additive model adjusted for sex, age at onset and the first two principal components calculated from genotyped data to conduct a genome-wide association study. We further analysed messenger RNA (mRNA) and phenotype expression in motor neurons derived from induced pluripotent stem cells (iPSC-MNs) of patients with ALS.

Results

Three novel loci were significantly associated with the survival of patients with sporadic ALS—FGF1at 5q31.3 (rs11738209, HR=2.36 (95% CI, 1.77 to 3.15), p=4.85×10⁻⁹),THSD7Aat 7p21.3 (rs2354952, 1.38 (95% CI, 1.24 to 1.55), p=1.61×10⁻⁸) andLRP1at 12q13.3 (rs60565245, 2.18 (95% CI, 1.66 to 2.86), p=2.35×10⁻⁸).FGF1andTHSD7Avariants were associated with decreased mRNA expression of each gene in iPSC-MNs and reduced in vitro survival of iPSC-MNs obtained from patients with ALS. The iPSC-MN in vitro survival was reduced when the expression ofFGF1andTHSD7Awas partially disrupted. The rs60565245 was not associated withLRP1mRNA expression.

Conclusions

We identified three loci associated with the survival of patients with sporadic ALS, decreased mRNA expression ofFGF1andTHSD7Aand the viability of iPSC-MNs from patients. The iPSC-MN model reflects the association between patient prognosis and genotype and can contribute to target screening and validation for therapeutic intervention.

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, May 2023
Japanese

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, May 2023
Japanese

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, May 2023
Japanese

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, May 2023
Japanese

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, May 2023
Japanese

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, May 2023
Japanese

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, May 2023
Japanese

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, May 2023
Japanese

【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, May 2023
Japanese

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, May 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, May 2023
Japanese

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, May 2023
Japanese

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, May 2023
Japanese

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, May 2023
Japanese

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, May 2023
Japanese

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, May 2023
Japanese

脊髄小脳変性症治療薬
松島理明,矢部一郎
Brain and Nerve, 75, 5, 498, 502, (株)医学書院, May 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, Elsevier BV, May 2023, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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.

Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R‐related leukoencephalopathy
Ishiguro T, Konno T, Hara N, Zhu B, Okada S, Shibata M, Saika R, Kitano T, Toko M, Nezu T, Hama Y, Kawazoe T, Takahashi‐Iwata I, Yabe I, Sato K, Takeda H, Toda S, Nishimiya J, Teduka T, Nozaki H, Kasuga K, Miyashita A, Onodera O, Ikeuchi T
European Journal of Neurology, 30, 7, 1861, 1870, Wiley, 30 Mar. 2023, [Peer-reviewed], [International Magazine]
English, Scientific journal, Abstract

Background and purpose

Colony‐stimulating factor 1 receptor (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

CSF1R mutations were identified 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. Two partial deletions of CSF1R were identified that resulted in lack of the C‐terminal region, including the distal TKD, in two patients. Various clinical features including cognitive impairment, psychiatric symptoms and gait disturbance were observed. Various degrees of the white matter lesions and corpus callosum abnormalities on magnetic resonance imaging and characteristic calcifications on computed tomography were observed as imaging features.

Conclusions

Our results highlight the importance of examining the CNV of CSF1R even when Sanger or exome sequencing reveals no CSF1R mutations. Genetic examination of sequences and CNV analyses of CSF1R are recommended for an accurate diagnosis of CSF1R‐related leukoencephalopathy.

Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia
Hamada S, Takahashi-Iwata I, Satoh K, Kitamoto T, Mizusawa H, Moriwaka F, Yabe I
Human Genome Variation, 10, 1, 10, 10, Springer Science and Business Media LLC, 29 Mar. 2023, [Peer-reviewed], [Last author, Corresponding author], [International Magazine]
English, Scientific journal, Abstract

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.

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, 15 Mar. 2023, [Last author]
Scientific journal, 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, 13 Mar. 2023, [Last author], [International Magazine]
English

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, Mar. 2023
Japanese

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, Mar. 2023
Japanese

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, Mar. 2023
Japanese

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, Mar. 2023
Japanese

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, Mar. 2023
Japanese

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, Mar. 2023
Japanese

Skin biopsies for diagnosing neuronal intranuclear inclusion disease: A retrospective study of 12 cases
Itamoto S, Yanagi T, Yabe I, Matsuno Y, Ujiie H
The Journal of Dermatology, 50, 7, 931, 934, Wiley, 08 Feb. 2023, [Peer-reviewed]
English, Scientific journal, Abstract

Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative condition. Skin biopsies taken from the lower leg were reported to be a standard diagnostic procedure for NIID; however, no studies have addressed the optimal skin biopsy locations. We retrospectively analyzed 12 cases in which skin biopsies were performed for diagnosing NIID. We collected clinical information including age, sex, skin biopsy site, the presence of nuclear inclusion bodies, the results of p62 immunostaining, the final diagnosis from the department of neurology, and the presence of abnormal GGC repeats in the NOTCH2NLC gene. Four of the 12 cases had a final diagnosis of NIID. One of the four cases was biopsied from the lower leg, whereas the other three cases were biopsied from the abdomen or thigh. Biopsy specimens of the four definite NIID cases revealed the average rates of nuclear inclusion body‐positive cells in adipocytes, sweat gland cells, and fibroblasts to be 13.2%, 10.3%, and 6.3%, respectively. GGC repeat abnormalities in the NOTCH2NLC gene were observed in two of the four cases. The present study indicates that sites with ample subcutaneous fat tissue could be promising for diagnostic skin biopsies for NIID.

脊髄小脳変性症の最近の話題
松島理明, 矢部一郎
難病と在宅ケア, 28, 11, 34, 37, (株)日本プランニングセンター, Feb. 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

[New MDS Criteria for the Diagnosis of Multiple System Atrophy: How to Use in Clinical Practice and Clinical Trials].
Masaaki Matsushima, Ichiro Yabe
Brain and nerve = Shinkei kenkyu no shinpo, 75, 2, 143, 147, Feb. 2023, [Peer-reviewed], [Last author], [Domestic magazines]
Japanese, Scientific journal, 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.

Autoimmune Cerebellar Ataxia　　　　　　　　　　　　　　　
Yaguchi H, Yabe I
Clinical Experimental Neuroimmunology, in pres, 2023, [Last author]
English

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, Jan. 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, Jan. 2023, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, 22, 1, 87, 94, Japanese Society for Magnetic Resonance in Medicine, 2023, [Peer-reviewed], [Domestic magazines]
English, Scientific journal, 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, Dec. 2022
Japanese

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, Dec. 2022
Japanese

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, Dec. 2022
Japanese

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, Dec. 2022
Japanese

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, Dec. 2022
Japanese

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, Dec. 2022, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, Dec. 2022
Japanese

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, Dec. 2022
Japanese

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, Dec. 2022
Japanese

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, Dec. 2022
Japanese

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, Dec. 2022
Japanese

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
Immunological Medicine, 46, 2, 77, 83, Informa UK Limited, 08 Nov. 2022, [Peer-reviewed]
English, Scientific journal

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 Y
Journal of the Neurological Sciences, 442, 120391, 120391, Elsevier BV, Nov. 2022, [Peer-reviewed], [Last author, Corresponding author], [International Magazine]
English, Scientific journal, 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.

[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, 22 Oct. 2022, [Domestic magazines]
Japanese, Scientific journal, 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.

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, Oct. 2022
Japanese

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, Oct. 2022
Japanese

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, Oct. 2022
Japanese

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, Oct. 2022
Japanese

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, Oct. 2022
Japanese

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, Oct. 2022
Japanese

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
臨床神経学, 62, 10, 773, 780, (一社)日本神経学会, Oct. 2022, [Peer-reviewed], [Last author, Corresponding author]
Japanese, Scientific journal

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, Elsevier BV, Sep. 2022, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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.

Moyamoya Disease Associated with a Deficiency of Complement Component 6
Kato M, Kudo Y, Hatase M, Tsuchida N, Takeyama S, Sugiyama T, Fujimura M, Yabe I, Tsujimoto H, Fukumori Y, Inoue N, Atsumi T
Journal of Stroke and Cerebrovascular Diseases, 31, 8, 106601, 106601, Elsevier BV, Aug. 2022, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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.
Child's Nervous System, 39, 11, 3137, 3145, Springer Science and Business Media LLC, 30 Jul. 2022, [Peer-reviewed], [International Magazine]
English, Scientific journal, BACKGROUND: Little is known about the real-world status of neurosurgical treatment of myelomeningocele patients. OBJECTIVE: To investigate the real-world status of neurosurgical treatment of myelomeningocele patients, medical claims data provided by the Japan Medical Data Center (JMDC) were analyzed. METHODS: The health claims data of 556 patients with myelomeningoceles from January 2005 to March 2020 were examined. The number of neurosurgical procedures, including myelomeningocele repair, tethered cord release, cerebrospinal fluid (CSF) shunt, CSF drainage, and endoscopic third ventriculostomy (ETV), was determined. RESULTS: A total of 313 neurosurgical procedures were performed for 135 patients in 74 institutions during the study period. The shunt survival rate was most affected by shunts that were revised when the patient was less than 1 year old, which had a significantly lower survival rate than all of the initial shunts performed when the patient was less than on1 year old; the 1-year shunt survival rate was 35 vs 64% (P = 0.0102). The survival rate was significantly lower in patients younger than 1 year who had CSF drainage before shunting compared to those younger than 1 year who did not have CSF drainage before shunting; the 1-year shunt survival rate was 27 vs 59% (P = 0.0196), and 81% of patients remained free of tethered cord release 10 years later. CONCLUSIONS: In this study, a revised shunt of less than 1 year of age and CSF drainage before shunting were the factors that lowered the shunt survival rate in the real world for CSF shunts for hydrocephalus associated with myelomeningocele.

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), Jul. 2022
Japanese

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, Jul. 2022
Japanese

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, Jul. 2022
Japanese

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, Jul. 2022
Japanese

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, Jul. 2022
Japanese

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, Jul. 2022
Japanese

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, Jul. 2022
Japanese

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, Jul. 2022
Japanese

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, Jul. 2022
Japanese

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, Jul. 2022
Japanese

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, Jul. 2022
Japanese

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, Jul. 2022
Japanese

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, Jul. 2022
Japanese

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, Jul. 2022
Japanese

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, Jul. 2022
Japanese

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), Jul. 2022
Japanese

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
Internal Medicine, 61, 11, 1693, 1698, Japanese Society of Internal Medicine, 01 Jun. 2022, [Peer-reviewed], [Domestic magazines]
English, Scientific journal, 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.

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, Frontiers Media SA, 12 May 2022, [Peer-reviewed], [Last author, Corresponding author], [International Magazine]
English, Scientific journal, 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.

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, May 2022, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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
Journal of Neurosurgery: Pediatrics, 29, 5, 479, 487, Journal of Neurosurgery Publishing Group (JNSPG), 01 May 2022, [Peer-reviewed]
English, Scientific journal, OBJECTIVE

Patients with myelomeningocele often require multiple surgeries, but no study has clarified the kind of treatment given to these patients throughout their lives. The authors analyzed the type of surgery that was performed and at what age for Japanese patients with myelomeningoceles.

METHODS

The Japanese health claims data of 556 patients with myelomeningocele for the period from January 2005 to March 2020 provided by the Japan Medical Data Center Co., Ltd., were examined to investigate the number of surgeries performed and the patient age at surgery for each specialty. The patients were divided into two groups (those ≤ 18 years old [group A] and those > 18 years old [group B]), and the way in which the types of surgery and the percentage of surgeries changed between these two groups was examined.

RESULTS

The mean follow-up period was 4.4 years. The mean age at the end of the overall follow-up was 18.6 years (range 0–70.5 years), and 1033 surgeries were performed on 294 patients (0.42 surgeries performed per patient per year) during this period. The number of surgeries for patients in group A was 818 in 192 patients, with 0.62 surgeries per patient per year, and for patients in group B it was 215 in 102 patients, with 0.19 surgeries per patient per year. The number of surgeries and the mean age at the time of surgery were as follows: 313 neurosurgeries, 5.16 years; 280 orthopedic surgeries, 11.36 years; 70 urological surgeries, 14.57 years; and 202 dermatological/plastic surgeries, 16.19 years. In the surgeries related to myelomeningocele, the rates of CSF shunt placement, tethered cord release, muscle and tendon surgery, and other bone and joint surgery decreased significantly in group B, but they continued to undergo these surgeries. In group B, the rates of skin surgery, nephrostomy, ureterostomy, and cystostomy were significantly higher.

CONCLUSIONS

A significant number of surgeries in multiple specialties related to myelomeningocele continue to be performed in adulthood, indicating that these patients require continuous care throughout their lives.

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
Neurobiology of Aging, 113, 131, 136, Elsevier BV, May 2022, [Peer-reviewed]
English, Scientific journal

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, May 2022, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, Apr. 2022
Japanese

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, Apr. 2022
Japanese

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, Apr. 2022
Japanese

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, Apr. 2022
Japanese

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, Apr. 2022
Japanese

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, Apr. 2022
Japanese

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, Apr. 2022
Japanese

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, Apr. 2022
Japanese

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, Ishizaka 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, Elsevier BV, Apr. 2022, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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.

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, 19 Mar. 2022, [Domestic magazines]
English, Scientific journal, 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, Mar. 2022
Japanese

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, Mar. 2022
Japanese

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, Springer Science and Business Media LLC, 08 Feb. 2022, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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.

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
Journal of Human Genetics, 67, 6, 353, 362, Springer Science and Business Media LLC, 14 Jan. 2022, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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.

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

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

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, [Last author]

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

Reversible centripetal cerebral vasculitis in pneumococcal meningitis　　　　　　　　　　　　　　　
Nomura T, Ura S, Yaguchi H, Yabe I
Intern Med, 2022

Immune-medicated cerebellar ataxia with neurosarcoidosis　　　　　　　　　　　　　　　
Mizushima K, Yaguchi H, Sato S, Yabe I
Intern Med, 2022

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
Scientific journal

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
English

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
English

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

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

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, 1, 17, 21, Jan. 2022, [Peer-reviewed], [Last author]
Japanese, Scientific journal

【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, Jan. 2022
Japanese

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, Jan. 2022
Japanese

[Methods of Scientific Presentation and Announcement].
Masaaki Matsushima, Ichiro Yabe
Brain and nerve = Shinkei kenkyu no shinpo, 74, 1, 17, 21, Jan. 2022, [Domestic magazines]
Japanese, Scientific journal, 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.

[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, 22 Dec. 2021, [Domestic magazines]
Japanese, Scientific journal, 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, Dec. 2021
Japanese

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, Dec. 2021, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, Dec. 2021
Scientific journal

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, Nov. 2021
Japanese

Bassoon proteinopathy　　　　　　　　　　　　　　　
脇田雅大,長井 梓,矢口裕章,矢部一郎
脳神経内科, 95, 4, 482, 488, Oct. 2021, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, Oct. 2021
Japanese

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, Oct. 2021
Japanese

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, Oct. 2021
Japanese

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
Journal of NeuroVirology, 27, 6, 917, 922, Springer Science and Business Media LLC, 22 Sep. 2021, [Peer-reviewed], [Last author], [International Magazine]
Japanese, Scientific journal, 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.

Correlation of active contact location with weight gain after subthalamic nucleus deep brain stimulation: a case series
Eguchi K, Shirai S, Matsushima M, Kano T, Yamazaki K, Hamauchi S, Sasamori T, Seki T, Hirata K, Kitagawa M, Otsuki M, Shiga T, Houkin K, Sasaki H, Yabe I
BMC Neurology, 21, 1, 351, Springer Science and Business Media LLC, 13 Sep. 2021, [Peer-reviewed], [Last author]
English, Scientific journal, 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.

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, Sep. 2021
Japanese

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, Sep. 2021
Japanese

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, Sep. 2021
Japanese

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, Aug. 2021, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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 & Related Disorders, 89, 148, 150, Elsevier BV, Aug. 2021, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, 8, 705, 705, MDPI AG, 21 Jul. 2021, [Peer-reviewed], [Last author]
Japanese, Scientific journal, Reports on the long-term survival effect of edaravone, which was approved for the treatment of amyotrophic lateral sclerosis (ALS) in 2015 in Japan, are rare. Herein, we report our retrospective analysis of 45 consecutive patients with ALS who initially visited our hospital between 2013 and 2018. Of these, 22 patients were treated with edaravone for an average duration of 26.6 (range, 2–64) months, whereas the remaining patients were not treated with edaravone and comprised the control group. There were no differences in baseline demographics between the two groups. The primary endpoint was tracheostomy positive-pressure ventilation (TPPV) or death, and the follow-up period ended in December 2020. The survival rate was significantly better in the edaravone group than in the control group based on the Kaplan–Meier analysis, which revealed that the median survival durations were 49 (9–88) and 25 (8–41) months in the edaravone and control groups, respectively (p = 0.001, log-rank test). There were no serious edaravone-associated adverse effects during the study period. Overall, the findings of this single-center retrospective study suggest that edaravone might prolong survival in patients with ALS.

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, Jul. 2021
English

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, Jul. 2021, [Peer-reviewed], [Lead author]
Japanese, Scientific journal

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, Jul. 2021
Japanese

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, Jul. 2021
Japanese

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, Jul. 2021
Japanese

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, Jul. 2021
Japanese

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, Jul. 2021
Japanese

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), Jul. 2021
Japanese

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, Jul. 2021
Japanese

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, Jul. 2021
Japanese

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, Jul. 2021
Japanese

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
Journal of Neurology, 269, 2, 885, 896, Springer Science and Business Media LLC, 30 Jun. 2021, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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.

後遺症なく経過したダニ媒介性脳炎の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, 5, 310, 313, May 2021, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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 香里,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, May 2021, [Peer-reviewed]
Japanese, Scientific journal

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
Scientific Reports, 11, 1, 8109, Springer Science and Business Media LLC, 14 Apr. 2021, [Peer-reviewed]
English, Scientific journal, Abstract

Clinical targeted sequencing allows for the selection of patients expected to have a better treatment response, and reveals mechanisms of resistance to molecular targeted therapies based on actionable gene mutations. We underwent comprehensive genomic testing with either our original in-house CLHURC system or with OncoPrime. Samples from 24 patients with estrogen receptor-positive, human epidermal growth factor receptor 2-negative metastatic breast cancer underwent targeted sequencing between 2016 and 2018. Germline and somatic gene alterations and patients’ prognosis were retrospectively analyzed according to the response to endocrine therapy. All of the patients had one or more germline and/or somatic gene alterations. Four patients with primary or secondary endocrine-resistant breast cancer harbored germline pathogenic variants of BRCA1, BRCA2, or PTEN. Among somatic gene alterations, TP53, PIK3CA, AKT1, ESR1, and MYC were the most frequently mutated genes. TP53 gene mutation was more frequently observed in patients with primary endocrine resistance compared to those with secondary endocrine resistance or endocrine-responsive breast cancer. Recurrent breast cancer patients carrying TP53-mutant tumors had significantly worse overall survival compared to those with TP53-wild type tumors. Our 160-gene cancer panel will be useful to identify clinically actionable gene alterations in breast cancer in clinical practice.

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
Journal of Bone and Mineral Metabolism, 39, 5, 804, 809, Springer Science and Business Media LLC, 05 Apr. 2021, [Peer-reviewed]
English, Scientific journal

Multiple system atrophy in Hokkaido, Japan: a prospective registry study of 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, 2, e045100, e045100, 08 Feb. 2021, [Peer-reviewed]
English, Scientific journal

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, C 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
Japanese Journal of Clinical Oncology, 51, 5, 753, 761, Oxford University Press (OUP), 03 Feb. 2021, [Peer-reviewed], [International Magazine]
English, Scientific journal, Abstract

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
Mitamura T, Sekine M, Arai M, Shibata Y, Kato M, Yokoyama S, Yamashita H, Watari H, Yabe I, Nomura H, Enomoto T, Nakamura S, and the Registration Committee of the Japanese HBOC consortium
World Journal of Surgical Oncology, 19, 1, 36, 36, Springer Science and Business Media LLC, 02 Feb. 2021, [Peer-reviewed], [International Magazine]
English, Scientific journal, Abstract

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.

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 & Related Disorders, 83, 49, 53, Elsevier BV, Feb. 2021, [Peer-reviewed]
English, Scientific journal

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), Feb. 2021
Japanese

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
日本遺伝カウンセリング学会誌, 41, 4, 280, 283, Feb. 2021, [Peer-reviewed], [Last author, Corresponding author]
Japanese, Scientific journal

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, [International Magazine]
English, 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

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, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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

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

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

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

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

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

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

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, 2021, [Peer-reviewed], [Last author]
Japanese, Scientific journal

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, Jan. 2021
Japanese

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, Jan. 2021
Japanese

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, Jan. 2021
Japanese

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, Jan. 2021
Japanese

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, Jan. 2021
Japanese

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, [Last author]
Scientific journal

Pearls & Oy-sters: Adult-Onset Alexander Disease With Transient Swelling of the Medulla Oblongata　　　　　　　　　　　　　　　
Oshima Y, Takahashi-Iwata I, Sato S, Harada T, Yoshida T, Yabe I
Neurology, 97, 602, 605, 2021, [Last author, Corresponding author]

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, [Last author]

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, Jan. 2021
Japanese

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, Jan. 2021
Japanese

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, Jan. 2021
Japanese

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, Jan. 2021
Japanese

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, [Last author]
Japanese

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
English

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
English

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, Dec. 2020
Japanese

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, Nov. 2020
Japanese

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, Nov. 2020
Japanese

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, Nov. 2020
Japanese

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
Journal of Human Genetics, 66, 5, 535, 537, Springer Science and Business Media LLC, 30 Oct. 2020, [Peer-reviewed], [Last author, Corresponding author], [International Magazine]
English, Scientific journal, 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.

[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, 24 Oct. 2020, [Domestic magazines]
Japanese, Scientific journal, 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, Oct. 2020
Japanese

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, Oct. 2020
Japanese

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, Oct. 2020
Japanese

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, Sep. 2020
Japanese

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, 08 Aug. 2020, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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, 07 Aug. 2020, [Domestic magazines]
Japanese, Scientific journal, 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.

[A case of Emery-Dreifuss muscular dystrophy with slight joint contracture].
Shintaro Fujii, Katsuki Eguchi, Chika Sato, Yoshihiko Saito, Luh Ari Indrawati, Shinichi Shirai, Ichizo Nishino, Ichiro Yabe
Rinsho shinkeigaku = Clinical neurology, 60, 8, 554, 559, Societas Neurologica Japonica, 07 Aug. 2020, [Peer-reviewed], [Corresponding author], [Domestic magazines]
Japanese, Scientific journal, A 42-year-old man with a history of two previous coronary embolisms was referred to our hospital. He had been experiencing muscle weakness since he was around 40 years old. He had muscle atrophy of the scapula, upper arm, and lower extremities, and electromyography revealed myogenic changes in the limb muscles. Histopathological analysis of the muscle biopsy specimen revealed a complete deficiency of emerin protein, and genetic examination revealed a mutation in the emerin (EMD) gene, resulting in a diagnosis of Emery-Dreifuss muscular dystrophy (EDMD). EDMD is a muscular disorder with three symptoms: joint contracture at early onset, muscle weakness and atrophy, and cardiac dysfunction. Although this patient showed no obvious joint contracture, the course and clinical symptoms vary among patients. Therefore, in patients in whom clinical diagnosis is difficult, muscle biopsy and genetic testing should be performed for EDMD in order to prevent sudden death due to this disease.

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, Aug. 2020, [Peer-reviewed], [Last author]
Japanese

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, Aug. 2020, [Peer-reviewed]

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), 17 Jul. 2020, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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 &gt; A and c.2800C &gt; 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, Jun. 2020
Japanese

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, Jun. 2020
Japanese

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, Jun. 2020
Japanese

Cerebellar rotation abnormalities observed in Machado-Joseph Disease　　　　　　　　　　　　　　　
Nomura T, Iwata I, Harada T, Yabe I (corresponding author
Internal Medicine, 59, 3253, 3254, Jun. 2020, [Peer-reviewed]

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 Rheumatololgy, 2, E724, Mar. 2020, [Peer-reviewed]

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, Mar. 2020, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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: Advanced Techniques and Case Management, 19, 100565, 100565, Mar. 2020, [Peer-reviewed]
English, Scientific journal

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, 24 Feb. 2020, [Peer-reviewed], [International Magazine]
English

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, Feb. 2020
Japanese

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, Feb. 2020, [Peer-reviewed], [Last author]

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, Feb. 2020, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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
Japanese, Scientific journal

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

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, Jan. 2020
Japanese

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, Jan. 2020
Japanese

多系統萎縮症の治療の現状と展望
松島理明, 矢部一郎
難病と在宅ケア, 26, 8, 13, 15, (株)日本プランニングセンター, 2020
Japanese

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
Japanese

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
English

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, [International Magazine]
English, Scientific journal, 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
English

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, [International Magazine]
English, 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, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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, [Peer-reviewed]

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, [Peer-reviewed]
Japanese

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, [Peer-reviewed]

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, Jan. 2020, [Peer-reviewed]
Japanese

【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, Dec. 2019
Japanese

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, Dec. 2019, [Last author]
Japanese

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, Nov. 2019
Japanese

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, Nov. 2019
Japanese

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, Nov. 2019
Japanese

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, Nov. 2019
Japanese

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, Nov. 2019, [Peer-reviewed]
Japanese

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, Oct. 2019
Japanese

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, Oct. 2019
Japanese

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, Jul. 2019
Japanese

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, Jun. 2019, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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, May 2019, [Peer-reviewed]
English, Scientific journal

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, Apr. 2019
Japanese

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, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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, [Peer-reviewed], [Lead author]
Japanese

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, [Peer-reviewed]

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, [Peer-reviewed]
Japanese, Scientific journal

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, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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, Dec. 2018
English

Hashimoto's encephalopathy mimicking a brain tumor and its pathological findings: A case report.
Hisashi Uwatoko, Ichiro Yabe, Shoki Sato, Megumi Abe, Shinichi Shirai, Ikuko Takahashi, Masaaki Matsushima, Takahiro Kano, Shigeru Yamaguchi, Kanako C Hatanaka, Makoto Yoneda, Hidenao Sasaki
Journal of the neurological sciences, 394, 141, 143, 15 Nov. 2018, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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, Oct. 2018, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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.
Sonoko Misawa, Satoshi Kuwabara, Yasunori Sato, Nobuko Yamaguchi, Kengo Nagashima, Kanako Katayama, Yukari Sekiguchi, Yuta Iwai, Hiroshi Amino, Tomoki Suichi, Takanori Yokota, Yoichiro Nishida, Tadashi Kanouchi, Nobuo Kohara, Michi Kawamoto, Junko Ishii, Motoi Kuwahara, Hidekazu Suzuki, Koichi Hirata, Norito Kokubun, Ray Masuda, Juntaro Kaneko, Ichiro Yabe, Hidenao Sasaki, Ken-Ichi Kaida, Hiroshi Takazaki, Norihiro Suzuki, Shigeaki Suzuki, Hiroyuki Nodera, Naoko Matsui, Shoji Tsuji, Haruki Koike, Ryo Yamasaki, Susumu Kusunoki
The Lancet. Neurology, 17, 6, 519, 529, Jun. 2018, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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, May 2018, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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
Yasunori Mito, Ichiro Yabe, Hiroaki Yaguchi, Toshiki Takei, Satoshi Terae, Yasutaka Tajima
Parkinsonism and Related Disorders, 50, 37, 41, Elsevier Ltd, 01 May 2018, [Peer-reviewed]
English, Scientific journal

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, 01 May 2018, [Peer-reviewed]
English, Scientific journal

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, Apr. 2018
English, Scientific journal

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, 01 Apr. 2018, [Peer-reviewed]
English

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, 16 Jan. 2018, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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.

A case of Lyme neuroborreliosis without erythema migrans
Katsuki Eguchi, Kazuhumi Tsuzaka, Ichiro Yabe, Hidenao Sasaki
Clinical Neurology, 58, 2, 124, 126, Societas Neurologica Japonica, 2018
Japanese, Scientific journal

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, [Peer-reviewed]
Japanese, Scientific journal

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, [Peer-reviewed]
Japanese, Scientific journal

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, [Peer-reviewed]
Japanese, Scientific journal

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, [Peer-reviewed]
Japanese, Scientific journal

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, Dec. 2017, [Peer-reviewed]
English, Scientific journal

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, Nov. 2017, [Peer-reviewed]
English

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, Oct. 2017
Scientific journal

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, Oct. 2017, [Peer-reviewed]
English, Scientific journal

A nationwide survey of familial syringomyelia in Japan
Ichiro Yabe, Masaaki Matsushima, Hidenao Sasaki, Toshitaka Seki
JOURNAL OF THE NEUROLOGICAL SCIENCES, 381, 128, 129, Oct. 2017, [Peer-reviewed]
English, Scientific journal

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, Sep. 2017, [Lead author]

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, Sep. 2017, [Peer-reviewed]
English, Scientific journal

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, Sep. 2017, [Peer-reviewed]
English, Scientific journal

Advances in neurological therapeutics for friedreich ataxia and Machado-Joseph disease
Ichiro Yabe, Hidenao Sasaki
Brain and Nerve, 69, 8, 913, 924, Igaku-Shoin Ltd, 01 Aug. 2017, [Peer-reviewed], [Lead author]
Japanese, Scientific journal

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, Jul. 2017, [Peer-reviewed]
English, Scientific journal

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, Jul. 2017, [Peer-reviewed]
English, Scientific journal

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, Jun. 2017, [Peer-reviewed]
English

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, Jun. 2017
English

Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.
Toru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, Shigeo Takashima, Hiroshi Umemura, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Takashi Matsukawa, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Koji Abe
Journal of the neurological sciences, 375, 424, 429, 15 Apr. 2017, [Peer-reviewed], [International Magazine]
English, 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, Apr. 2017, [Peer-reviewed]
English

脊髄空洞症　　　　　　　　　　　　　　　
矢部一郎,佐々木秀直
神経治療学, 34, 346, 349, 2017, [Lead author]

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

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, Jan. 2017
Japanese

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, 2017, [Peer-reviewed]
English

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, 2017, [Peer-reviewed]
English

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, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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, Jan. 2017, [Peer-reviewed], [Domestic magazines]
Japanese, Scientific journal, 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, 2017, [Peer-reviewed]
English, Scientific journal

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, 2017, [Peer-reviewed]
English, Scientific journal

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, Dec. 2016
Japanese

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).
Nobuko Yamaguchi, Sonoko Misawa, Yasunori Sato, Kengo Nagashima, Kanako Katayama, Yukari Sekiguchi, Yuta Iwai, Hiroshi Amino, Tomoki Suichi, Takanori Yokota, Yoichiro Nishida, Nobuo Kohara, Koichi Hirata, Kazutoshi Nishiyama, Ichiro Yabe, Ken-Ichi Kaida, Norihiro Suzuki, Hiroyuki Nodera, Shoji Tsuji, Haruki Koike, Jun-Ichi Kira, Hideki Hanaoka, Susumu Kusunoki, Satoshi Kuwabara
JMIR research protocols, 5, 4, e210, 07 Nov. 2016, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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, Oct. 2016, [Peer-reviewed]
English

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, Oct. 2016, [Peer-reviewed]
English, Scientific journal

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, Sep. 2016, [Peer-reviewed]
English

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, Aug. 2016, [Peer-reviewed]
English, Scientific journal

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, Jun. 2016, [Peer-reviewed]
English, Scientific journal

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, Apr. 2016, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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, +, Mar. 2016
English, Scientific journal

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, Mar. 2016, [Peer-reviewed]
English, Scientific journal

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, [Lead author]

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

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, [Peer-reviewed]
English, Scientific journal

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, Jan. 2016, [Peer-reviewed]
English, Scientific journal

Syringomyelia
Yabe Ichiro, Sasaki Hidenao
Neurological Therapeutics, 33, 5, S135, S135, Japanese Society of Neurological Therapeutics, 2016, [Peer-reviewed]
Japanese, Scientific journal

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, [Peer-reviewed]
Japanese, Scientific journal

Review/Advances in Neurological Therapeutics (2015). Spinocerebellar Degeneration
Yabe Ichiro, Sasaki Hidenao
Neurological Therapeutics, 33, 4, 522, 528, Japanese Society of Neurological Therapeutics, 2016, [Peer-reviewed]
Japanese, Scientific journal,

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, Jan. 2016, [Peer-reviewed]
English, Scientific journal

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, Dec. 2015
Japanese

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, Dec. 2015, [Peer-reviewed]
English, Scientific journal

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, Nov. 2015, [Peer-reviewed]
English, Scientific journal

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, Oct. 2015, [Peer-reviewed]
English, Scientific journal

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, Sep. 2015
Japanese

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, Aug. 2015
Japanese

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, Apr. 2015, [Peer-reviewed]
English, Scientific journal

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, Mar. 2015, [Peer-reviewed]
English, Scientific journal

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, Feb. 2015
Japanese

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, Feb. 2015, [Peer-reviewed]
English, Scientific journal

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, [Peer-reviewed]

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, [Invited]
Japanese, Scientific journal

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, [Peer-reviewed]
Japanese, Scientific journal

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, [Peer-reviewed]
Japanese, Scientific journal

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, [Peer-reviewed]
Japanese, Scientific journal

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, 2015, [Peer-reviewed]
English, Scientific journal

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, [Peer-reviewed]
Japanese

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, Dec. 2014
Japanese

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, Dec. 2014, [Peer-reviewed]
English, Scientific journal

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, Dec. 2014, [Peer-reviewed]
English, Scientific journal

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, Sep. 2014, [Peer-reviewed]
English, Scientific journal

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, Jul. 2014, [Peer-reviewed]
English, Scientific journal

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, May 2014, [Peer-reviewed]
English, Scientific journal

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, 2014, [Peer-reviewed]
English, Scientific journal

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, Jan. 2014, [Peer-reviewed]
English

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, Jan. 2014
Japanese

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, Jan. 2014
Japanese

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, [Peer-reviewed]
Japanese, Scientific journal

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, [Peer-reviewed]
Japanese, Scientific journal

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, Sep. 2013, [Peer-reviewed]
English, Scientific journal

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, Jul. 2013, [Peer-reviewed]
English, Scientific journal

3D neuromelanin-sensitive magnetic resonance imaging with semi-automated volume measurement of the substantia nigra pars compacta for diagnosis of Parkinson's disease.
Kimihiro Ogisu, Kohsuke Kudo, Makoto Sasaki, Ken Sakushima, Ichiro Yabe, Hidenao Sasaki, Satoshi Terae, Mitsuhiro Nakanishi, Hiroki Shirato
Neuroradiology, 55, 6, 719, 24, Jun. 2013, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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, Jun. 2013, [Peer-reviewed]
English, Scientific journal

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, Jun. 2013, [Peer-reviewed]
English

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, May 2013, [Peer-reviewed]
English, Scientific journal

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, 01 May 2013, [Peer-reviewed]
English, Scientific journal

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, Mar. 2013, [Peer-reviewed]
English, Scientific journal

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, Feb. 2013, [Peer-reviewed]
Japanese

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, [Peer-reviewed]
English

Chromosomal structural variation - An approach for multiple system atrophy
Ichiro Yabe, Hidenao Sasaki
Clinical Neurology, 53, 11, 1333, 1335, 2013, [Peer-reviewed]
Japanese, Scientific journal

脊髄小脳変性症の治療の進歩 2012　　　　　　　　　　　　　　　
Ichiro Yabe, Hidenao Sasaki
神経治療学, 30, 411, 415, 2013, [Peer-reviewed]
Japanese, Scientific journal

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, Dec. 2012
Japanese

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, Dec. 2012
Japanese

在宅人工呼吸器使用患者の緊急時支援体制とヒヤリハット事例対策
太田緑, 國枝保幸, 矢部一郎, 佐々木秀直
月刊難病と在宅ケア, 18, 8, 59-61, 01 Nov. 2012
Japanese

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, Sep. 2012, [Peer-reviewed]
English, Scientific journal

Review/Advances in Neurological Therapeutics (2011). Spinocerebellar Degeneration.
YABE ICHIRO, SASAKI HIDENAO
神経治療学, 29, 4, 395-400, 25 Jul. 2012
Japanese

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, 18 Jun. 2012, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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, Jun. 2012
Japanese

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, Apr. 2012, [Peer-reviewed]
English, Scientific journal

Painless legs and moving toes from parasagittal meningioma
Ichiro Yabe, Takahiro Kano, Ken Sakushima, Shunsuke Terasaka, Hidenao Sasaki
MOVEMENT DISORDERS, 27, 4, 586, 587, Apr. 2012, [Peer-reviewed]
English

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, Feb. 2012, [Peer-reviewed]
English, Scientific journal

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　　　　　　　　　　　　　　　
Makoto Hirotani, Akiko Takeuchi, Shinichi Shirai, Kazuhiro Horiuchi, Ikuko Takahashi, Masaaki Matsushima, Takahiro Kanoh, Ichiro Yabe, Akihisa Matsumoto, Hidenao Sasaki
末梢神経, 28, 231, 232, 2012, [Peer-reviewed]

Revival of old diagnostic markers in the cerebrospinal fluid for the detection of infectious meningitis
Ken Sakushima, Ichiro Yabe, Hidenao Sasaki
Clinical Neurology, 52, 1, 6, 11, 日本神経学会, 2012
Japanese

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, Dec. 2011, [Peer-reviewed]
English, Scientific journal

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, Dec. 2011
Japanese

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, Dec. 2011
Japanese

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, Nov. 2011
Japanese

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, Sep. 2011, [Peer-reviewed]
English, Scientific journal

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, Jul. 2011, [Peer-reviewed]
English, Scientific journal

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, Jun. 2011, [Peer-reviewed]
English, Scientific journal

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, Mar. 2011, [Peer-reviewed]
English

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, Feb. 2011, [Peer-reviewed]
English, Scientific journal

髄小脳変性症のすべて-遺伝性痙性対麻痺
Ichiro Yabe
難病と在宅ケア, 17, 2, 46, 48, 日本プランニングセンター, 2011, [Peer-reviewed]
Japanese

常染色体優性遺伝性痙性対麻痺の臨床　　　　　　　　　　　　　　　
Yabe, I, Sasaki, H
神経内科, 74, 119, 126, 2011, [Peer-reviewed]
Japanese

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, Jan. 2011, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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, [Peer-reviewed]
Japanese

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, Dec. 2010, [Peer-reviewed]
English, Scientific journal

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, Dec. 2010
Japanese

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, Dec. 2010
Japanese

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, Oct. 2010, [Peer-reviewed]
English, Scientific journal

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, Oct. 2010, [Peer-reviewed]
English, Scientific journal

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, Sep. 2010, [Peer-reviewed]
English, Scientific journal

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, Jul. 2010, [Peer-reviewed]
English, Scientific journal

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, May 2010, [Peer-reviewed], [International Magazine]
English, Scientific journal, 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, Apr. 2010, [Peer-reviewed]
English, Scientific journal

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, Apr. 2010, [Peer-reviewed]
English

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, Mar. 2010, [Peer-reviewed]
English, Scientific journal

Spinocerebellar ataxia (SCA): Spinocerebellar ataxia type 14
YABE ICHIRO, SASAKI HIDENAO
月刊神経内科, 72, 2, 179-184, 25 Feb. 2010
Japanese

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, Jan. 2010, [Peer-reviewed]
English, Scientific journal

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, Dec. 2009, [Peer-reviewed]
English, Scientific journal

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, Dec. 2009, [Peer-reviewed]
English, Scientific journal

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, Dec. 2009
Japanese

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, Oct. 2009, [Peer-reviewed]
English, Scientific journal

Reliability of the Japanese version of the scale for the assessment and rating of ataxia (SARA)
Kazunori Sato, Ichiro Yabe, Hiroyuki Soma, Kenichi Yasui, Mizuki Ito, Takayoshi Shimohata, Osamu Onodera, Kenji Nakashima, Gen Sobue, Masatoyo Nishizawa, Hidenao Sasaki
Brain and Nerve, 61, 5, 591, 595, May 2009
Japanese, Scientific journal

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, Apr. 2009
Japanese

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, Mar. 2009, [Peer-reviewed]
English, Scientific journal

Reliability of blood gas analyzers for measuring lactate levels in cerebrospinal fluid
Ken Sakushima, Masaaki Niino, Sachiko Akimoto-Tsuji, Ichiro Yabe, Hidenao Sasaki
Clinical Neurology, 49, 5, 275, 277, Societas Neurologica Japonica, 2009, [Peer-reviewed]
Japanese, Scientific journal

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, Dec. 2008
Japanese

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, Oct. 2008, [Peer-reviewed]
English, Scientific journal

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, Oct. 2008
Japanese

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, Aug. 2008
Japanese

[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, Jun. 2008, [Domestic magazines]
Japanese, Scientific journal, 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, Jun. 2008, [Peer-reviewed]
English, Scientific journal

Balo's concentric sclerosis-like lesion in the brainstem of a multiple sclerosis patient
Riichiro Kishimoto, Ichiro Yabe, Masaaki Niino, Kazunori Sato, Sachiko Tsuji, Seiji Kikuchi, Hidenao Sasaki
JOURNAL OF NEUROLOGY, 255, 5, 760, 761, May 2008, [Peer-reviewed]
English

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, Mar. 2008, [Peer-reviewed]
English, Scientific journal

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, Feb. 2008, [Peer-reviewed]
Japanese, Scientific journal

An Autopsy Case of Sjogren's Syndrome with Acute Encephalomyelopathy
Hiroaki Yaguchi, Hideki Houzen, Keisuke Kikuchi, Dai Hata, Shigehisa Ura, Tsuyoshi Takeda, Ichiro Yabe, Hidenao Sasaki
INTERNAL MEDICINE, 47, 19, 1675, 1680, 2008, [Peer-reviewed]
English, Scientific journal

Secretion of DJ-1 into the serum of patients with Parkinson's disease
Chinatsu Maita, Sachiko Tsuji, Ichiro Yabe, Shinsuke Hamada, Akihiko Ogata, Hiroyhsi Maita, Sanae M. M. Iguchi-Ariga, Hidenao Sasaki, Hiroyoshi Ariga
NEUROSCIENCE LETTERS, 431, 1, 86, 89, Jan. 2008, [Peer-reviewed]
English, Scientific journal

Progressive cerebellar ataxia with euthyroid Hashimoto's disease - Implication of autoantibodies associated with Hashimoto's disease in progressive cerebellar ataxia-
Ichiro Yabe, Kazunori Sato, Hiroyuki Soma, Hidenao Sasaki
Clinical Neurology, 48, 9, 640, 645, Societas Neurologica Japonica, 2008, [Peer-reviewed]
Japanese, Scientific journal

神経内科疾患と高次脳機能の障害-脊髄小脳変性症（MSAを除く）
矢部 一郎, 佐々木秀直
老年精神医学雑誌, 19, 8, 856, 862, ワールドプランニング, 2008, [Peer-reviewed]
Japanese

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, 2008, [Peer-reviewed]
English

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, Oct. 2007, [Peer-reviewed]
English, Scientific journal

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, [Peer-reviewed]
Japanese

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, 2007, [Peer-reviewed]
English

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, 2007, [Peer-reviewed]
English, Scientific journal

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, Nov. 2006, [Peer-reviewed]
English, Scientific journal

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, Aug. 2006, [Peer-reviewed]
English, Scientific journal

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, 175, 3, 994, 998, Mar. 2006, [Peer-reviewed]
English, Scientific journal

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, Feb. 2006, [Peer-reviewed]
English, Scientific journal

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, Feb. 2006, [Peer-reviewed]
English, Scientific journal

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, [Peer-reviewed]
English

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, Jan. 2006, [Peer-reviewed]
English, Scientific journal

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, [Peer-reviewed]
Japanese

常染色体優性遺伝性脊髄小脳変性症-SCA14の分子遺伝学、病態機序
矢部 一郎, 佐々木秀直
神経進歩, 50, 347, 353, 2006, [Peer-reviewed]
Japanese

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, [Peer-reviewed]
Japanese

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, Nov. 2005, [Peer-reviewed]
English, Scientific journal

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, Oct. 2005, [Peer-reviewed]
English, Scientific journal

Treatment of cerebellar ataxia with 5-HT1A agonist
A Takei, T Hamada, Yabe, I, H Sasaki
CEREBELLUM, 4, 3, 211, 215, Sep. 2005, [Peer-reviewed]
English

Brain 3D-SSP SPECT analysis in dementia with Lewy bodies, Parkinson's disease with and without dementia, and Alzheimer's disease
Y Mito, K Yoshida, Yabe, I, K Makino, M Hirotani, K Tashiro, S Kikuchi, H Sasaki
CLINICAL NEUROLOGY AND NEUROSURGERY, 107, 5, 396, 403, Aug. 2005, [Peer-reviewed]
English, Scientific journal

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, Jul. 2005, [Peer-reviewed]
English, Scientific journal

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, Apr. 2005, [Peer-reviewed]
English, Scientific journal

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, Feb. 2005, [Peer-reviewed]
English, Scientific journal

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, Nov. 2004, [Peer-reviewed]
English

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, Oct. 2004, [Peer-reviewed]
English, Scientific journal

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, Oct. 2004, [Peer-reviewed]
English, Scientific journal

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, May 2004
Japanese

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, [Peer-reviewed]
Japanese

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, Jan. 2004, [Peer-reviewed]
English

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, [Peer-reviewed]
English, Scientific journal

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, [Peer-reviewed]
Japanese

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, Dec. 2003, [Peer-reviewed]
English, Scientific journal

'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, Dec. 2003, [Peer-reviewed]
English

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, Dec. 2003, [Peer-reviewed]
English, Scientific journal

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, Aug. 2003, [Peer-reviewed]
English, Scientific journal

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, Jul. 2003, [Peer-reviewed]
English, Scientific journal

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, May 2003, [Peer-reviewed]
English

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, Apr. 2003, [Peer-reviewed]
English, Scientific journal

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, Mar. 2003, [Peer-reviewed]
English, Scientific journal

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, Feb. 2003, [Peer-reviewed]
English, Scientific journal

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, Feb. 2003, [Peer-reviewed]
English, Scientific journal

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, Feb. 2003, [Peer-reviewed]
English, Scientific journal

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, 2003, [Peer-reviewed]
English

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, 2003, [Peer-reviewed]
English, Scientific journal

The hereditary spinocerebellar ataxias in Japan
H Sasaki, Yabe, I, K Tashiro
CYTOGENETIC AND GENOME RESEARCH, 100, 1-4, 198, 205, 2003, [Peer-reviewed]
English, Scientific journal

Spinocerebellar ataxia type 14　　　　　　　　　　　　　　　
矢部 一郎, 佐々木秀直
神経内科, 60, 493, 496, 2003, [Peer-reviewed]
Japanese

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, [Peer-reviewed]
Japanese

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, [Peer-reviewed]
Japanese

フリードライヒ病
矢部 一郎, 佐々木秀直
総合リハビリテーション, 31, 5, 445, 450, 2003, [Peer-reviewed]
Japanese

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, [Peer-reviewed]
Japanese

脊髄小脳変性症の臨床像と鑑別診断
佐々木秀直, 矢部 一郎, 田代邦雄
日本医事新報, 4119, 4119, 16, 24, 日本医事新報社, 2003, [Peer-reviewed]
Japanese

An examination of the association between 32 adrenergic receptor polymorphisms and multiple sclerosis
M Niino, S Kikuchi, R Miyagishi, T Fukazawa, Yabe, I, K Tashiro
MULTIPLE SCLEROSIS, 8, 6, 475, 478, Dec. 2002, [Peer-reviewed]
English, Scientific journal

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, Dec. 2002, [Peer-reviewed]
English, Scientific journal

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, Dec. 2002, [Peer-reviewed]
English

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, Aug. 2002, [Peer-reviewed]
English, Scientific journal

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, Aug. 2002, [Peer-reviewed]
English, Scientific journal

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, Jul. 2002, [Peer-reviewed]
English, Scientific journal

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, Jun. 2002, [Peer-reviewed]
English, Scientific journal

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, Apr. 2002, [Peer-reviewed]
English, Scientific journal

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, Apr. 2002, [Peer-reviewed]
English, Scientific journal

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, 2002, [Peer-reviewed]
English, Scientific journal

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, [Peer-reviewed]
Japanese

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, [Peer-reviewed]
Japanese

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, Aug. 2001, [Peer-reviewed]
English, Scientific journal

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, Aug. 2001, [Peer-reviewed]
English, Scientific journal

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, Jul. 2001, [Peer-reviewed]
English, Scientific journal

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, May 2001, [Peer-reviewed]
English

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, [Peer-reviewed]
English

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, [Peer-reviewed]
Japanese

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, [Peer-reviewed]
Japanese

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, Oct. 2000, [Peer-reviewed]
English, Scientific journal

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, Aug. 2000, [Peer-reviewed]
English, Scientific journal

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, Aug. 2000, [Peer-reviewed]
English, Scientific journal

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, Jul. 2000, [Peer-reviewed]
English, Scientific journal

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, Jun. 2000, [Peer-reviewed]
English

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, Apr. 2000, [Peer-reviewed]
English, Scientific journal

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, Mar. 2000, [Peer-reviewed]
English, Scientific journal

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, Feb. 2000, [Peer-reviewed]
English, Scientific journal

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, [Peer-reviewed]
Japanese

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, [Peer-reviewed]
Japanese

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, [Peer-reviewed]
Japanese

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, [Peer-reviewed]
Japanese

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, Dec. 1999, [Peer-reviewed]
English, Scientific journal

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, Nov. 1999, [Peer-reviewed]
English

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, Sep. 1999, [Peer-reviewed]
English, Scientific journal

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, Jun. 1999, [Peer-reviewed]
English, Scientific journal

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, [Peer-reviewed]
Japanese

A clinical trial of acetazolamide for SCA6　　　　　　　　　　　　　　　
Yabe I, Sasaki H, Yamashita I, Takei A, Fukazawa T, Hamada T, Tashiro K
Clinical Neurology, 39, 793, 799, 1999, [Peer-reviewed], [Lead author]
Japanese

Initial symptoms and mode of neurological progression in spinocerebellar ataxia type 6 (SCA6)
Ichiro Yabe, Hidenao Sasaki, Isao Yamashita, Asako Takei, Toshiyuki Fukazawa, Takeshi Hamada, Kunio Tashiro
Clinical Neurology, 38, 6, 489, 494, Jun. 1998, [Peer-reviewed]
Japanese, Scientific journal

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, Mar. 1998, [Peer-reviewed]
English, Scientific journal

SCA7　　　　　　　　　　　　　　　
矢部 一郎, 佐々木秀直, 田代邦雄
神経内科, 49, 243, 248, 1998, [Peer-reviewed]
Japanese

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, [Peer-reviewed]
Japanese

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, [Peer-reviewed]
Japanese

Syringomyelia as a cause of body hypertrophy
K Sudo, Y Owada, Yabe, I, S Kikuchi, K Tashiro
LANCET, 347, 9015, 1593, 1595, Jun. 1996, [Peer-reviewed]
English, Scientific journal

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, [Peer-reviewed]
Japanese, Scientific journal

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, [Peer-reviewed]
Japanese

脊髄小脳変性症の治療の進歩 2013
Yabe, I, Sasaki, H
神経治療学, [Peer-reviewed]
Japanese

運動失調症の定量的評価法；正確な効果判定のために　　　　　　　　　　　　　　　
Ichiro Yabe, Hidenao Sasaki
神経治療学, [Peer-reviewed]

働き方改革の中でDE & Iを考える　　　　　　　　　　　　　　　
矢部一郎, 北海道医報, 31, Oct. 2024, [Lead author]
Japanese

〈講演抄録〉認知症診療の現状と課題　　　　　　　　　　　　　　　
矢部一郎, 北海道医報, 4, Sep. 2024, [Lead author]
Japanese

研究会の歴史を振り返って 世話人からのメッセージ　　　　　　　　　　　　　　　
矢部一郎, カテコールアミンと神経疾患研究会, 11, 2024, [Lead author]
Japanese

〈インタビュー記事〉ゲノム×免疫で脳神経内科の未来の扉を開く　　　　　　　　　　　　　　　
矢部一郎, NEURO LOGICA, 34, 2, 5, 2024, [Lead author]
Japanese

北海道大学病院軽度認知障害センターでの診療について　　　　　　　　　　　　　　　
矢部一郎, Medical Veiw Point, 45, 8, 2024, [Lead author]
Japanese

ヒトBassoon遺伝子p.P3886A変異に相当するp.P3882A変異を有するノックインマウスの行動・組織学的解析　　　　　　　　　　　　　　　
田中大貴,矢口裕章,吉崎嘉一,工藤彰彦,森 文秋,野村太一,潘 静,三木康生,高橋秀尚,原 太一,若林孝一,矢部一郎, 北海道医学雑誌, 99, 85, 2024, [Last author]
Japanese

もやもや病のエピゲノム病態修飾因子-血漿microRNA-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, 寳金清博, 藤村幹, 日本分子脳神経外科学会プログラム・抄録集, 24th, 2024

大学病院における多診療科連携型軽度認知障害センターの構築
岩田育子, 松島理明, 宇土仁木, 池辺洋平, 平田健司, 杉山拓, 森田真也, 渡邊裕, 向野雅彦, 中村昭伸, 佐久嶋研, 熊谷聡美, 藤村幹, 工藤與亮, 矢部一郎, Dementia Japan, 38, 4, 2024

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, [Last author]
Japanese

【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, 8, 2024, [Last author]
Japanese

Comprehensive validation of circulating microRNA signatures for Moyamoya disease
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

編集後記　　　　　　　　　　　　　　　
矢部一郎, 遺伝子医学, 46, 170, 2023, [Lead author]
Japanese

将来の遺伝医療と遺伝教育　　　　　　　　　　　　　　　
矢部一郎, 北海道医療新聞, 2467, 2, 2023, [Lead author]
Japanese

Sez6l2抗体は稀ならず小脳性運動失調症を惹起する自己抗体である-自己免疫性小脳失調症コホート研究からの知見　　　　　　　　　　　　　　　
阿部 恵,矢口裕章,工藤彰彦,長井 梓,白井慎一,岩田育子,松島理明,中村直子,伊佐早健司,山野嘉久,芦田真士,笠井高士,田中惠子,渡部 昌,近藤 豪,高橋秀尚,畠山鎮次,竹腰 顕,木村暁夫,下畑亨良,矢部一郎, 北海道医学雑誌, 98, 114, 2023, [Last author]
Japanese

抗ミトコンドリアM2抗体陽性筋炎の臨床的特徴　　　　　　　　　　　　　　　
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, 北海道医学雑誌, 98, 36, 2023, [Last author]
Japanese

診断の糸口はここにある 手がかりから紐解く臨床推論「手足のしびれがあって整形外科で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, 臨床雑誌 内科, 132, 3, 652, 655, 2023, [Last author]
(株)南江堂, Japanese

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

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

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, [Last author]
Japanese

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, [Last author]
Japanese

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

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

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

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

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

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

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

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

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

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

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, 200, 2, 5, 2022, [Lead author]
Japanese

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, [Lead author]
Japanese

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

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,白井慎一,松島理明,加納崇裕,山﨑和義,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, 北海道医誌, 96, 66, 2021, [Last author]
Japanese

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

【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, May 2020, [Peer-reviewed], [Lead author]
北海道医学会, Japanese

【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, May 2020, [Peer-reviewed]

《会議録》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, 381, 2020
Japanese

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

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

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

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

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, [Lead author]
Japanese

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

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

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

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, Jan. 2020, [Peer-reviewed]
(一社)日本神経学会, Japanese

【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, Jan. 2020
(株)日本プランニングセンター, Japanese

【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, Nov. 2019, [Peer-reviewed]

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, Oct. 2019
(一社)日本認知症学会, Japanese

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, Jul. 2019
Movement Disorder Society of Japan (MDSJ), Japanese

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, Jun. 2019
(一社)日本神経学会, Japanese

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, Jun. 2019
(一社)日本神経学会, Japanese

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, Jun. 2019
(一社)日本神経学会, Japanese

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, Jun. 2019
(一社)日本神経学会, Japanese

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, Jun. 2019
(一社)日本神経学会, Japanese

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, Jun. 2019
(一社)日本神経学会, Japanese

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, Jun. 2019
(一社)日本神経学会, Japanese

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, Jun. 2019
(一社)日本神経学会, Japanese

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, Jun. 2019
(一社)日本神経学会, Japanese

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, Apr. 2019
English, Summary international conference

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, Apr. 2019
日本神経感染症学会, Japanese

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

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

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

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

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

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

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

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

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

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

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, Jan. 2019
(一社)日本神経学会, Japanese

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, Jan. 2019
(一社)日本神経学会, Japanese

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, Jan. 2019
(一社)日本神経学会, Japanese

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, Jan. 2019
(一社)日本神経学会, Japanese

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, Jan. 2019
(一社)日本神経学会, Japanese

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, Dec. 2018
(一社)日本神経学会, English

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, Dec. 2018
(一社)日本神経学会, Japanese

「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, Dec. 2018
(一社)日本神経学会, English

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, Dec. 2018
(一社)日本神経学会, English

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, Dec. 2018
(一社)日本神経学会, Japanese

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, Dec. 2018
(一社)日本神経学会, Japanese

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, Dec. 2018
(一社)日本神経学会, Japanese

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, Dec. 2018
(一社)日本神経学会, Japanese

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, Dec. 2018
(一社)日本神経学会, Japanese

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, Dec. 2018
(一社)日本神経学会, Japanese

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, Dec. 2018
(一社)日本神経学会, Japanese

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, Dec. 2018
(一社)日本神経学会, Japanese

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, Dec. 2018
(一社)日本神経学会, Japanese

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, Nov. 2018
(一社)日本神経治療学会, Japanese

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, Jul. 2018
Movement Disorder Society of Japan (MDSJ), Japanese

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, Jul. 2018
Movement Disorder Society of Japan (MDSJ), Japanese

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, May 2018
(一社)日本神経学会, Japanese

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, May 2018
(一社)日本神経学会, Japanese

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, May 2018
(一社)日本神経学会, Japanese

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, May 2018
(一社)日本神経学会, Japanese

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, May 2018
(一社)日本神経学会, Japanese

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, May 2018
(一社)日本神経学会, Japanese

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, May 2018
(一社)日本神経学会, Japanese

【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, May 2018
(株)日本臨床社, Japanese

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, May 2018
日本遺伝カウンセリング学会, Japanese

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, May 2018
(一社)日本神経学会, Japanese

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, May 2018
(一社)日本神経学会, Japanese

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, May 2018
日本遺伝カウンセリング学会, Japanese

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, May 2018
(一社)日本神経学会, Japanese

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

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

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

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

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
Japanese

A retrospective study of the effects of 3,4-diaminopyridine treatment in Lambert-Eaton myasthenic syndrome
Ryoji Naganuma, Ichiro Yabe, Ikuko Takahashi, Masaaki Matsushima, Takahiro Kano, Hidenao Sasaki, Clinical Neurology, 58, 2, 83, 87, 2018
Societas Neurologica Japonica, Japanese

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, Dec. 2017
(一社)日本神経学会, Japanese

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, Dec. 2017
(一社)日本神経学会, Japanese

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, Dec. 2017
(一社)日本神経学会, Japanese

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, Dec. 2017
(一社)日本神経学会, Japanese

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, Nov. 2017
(一社)日本神経治療学会, Japanese

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, Nov. 2017
日本神経治療学会, Japanese

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, Oct. 2017
Movement Disorder Society of Japan (MDSJ), Japanese

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, Oct. 2017
日本神経免疫学会, Japanese

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, Oct. 2017
Movement Disorder Society of Japan (MDSJ), Japanese

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, Oct. 2017
(一社)日本臨床神経生理学会, Japanese

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, Oct. 2017
Movement Disorder Society of Japan (MDSJ), Japanese

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, Oct. 2017
Movement Disorder Society of Japan (MDSJ), Japanese

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, Oct. 2017
日本神経免疫学会, Japanese

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, Oct. 2017
日本神経免疫学会, Japanese

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, Sep. 2017
(一社)日本排尿機能学会, Japanese

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, Sep. 2017
日本神経感染症学会, Japanese

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, Jul. 2017
English, Summary international conference

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, Jun. 2017
English, Summary international conference

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, Jun. 2017
日本自律神経学会, Japanese

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, Jun. 2017
(一社)日本神経学会, Japanese

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, Jun. 2017
(一社)日本神経学会, Japanese

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, Jun. 2017
(一社)日本神経学会, Japanese

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, Jun. 2017
(一社)日本神経学会, Japanese

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, Jun. 2017
(一社)日本神経学会, Japanese

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, Jun. 2017
(一社)日本神経学会, Japanese

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, Jun. 2017
日本自律神経学会, Japanese

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, May 2017
日本遺伝カウンセリング学会, Japanese