Yaguchi Hiroaki
| Faculty of Medicine Specialized Medicine Neurological Disorder | Associate Professor |
| Institute for the Promotion of Business-Regional Collaboration | Associate Professor |
| Hokkaido University Hospital | Associate Professor |
Last Updated :2025/06/07
■Researcher basic information
Researchmap personal page
J-Global ID
Research Field
Educational Organization
- Bachelor's degree program, Departments of Medicine, School of Medicine
- Master's degree program, Graduate School of Medicine
- Doctoral (PhD) degree program, Graduate School of Medicine
■Career
■Research activity information
Papers
- Gait Video–Based Prediction of Severity of Cerebellar Ataxia Using Deep Neural Networks
Katsuki Eguchi, Hiroaki Yaguchi, Hisashi Uwatoko, Yuki Iida, Shinsuke Hamada, Sanae Honma, Asako Takei, Fumio Moriwaka, Ichiro Yabe
Movement Disorders, 22 Jan. 2025
Scientific journal - The importance of early immunotherapy in anti-GluK2 antibody-positive autoimmune cerebellar ataxia: A case report.
Yuto Takeishi, Hiroaki Yaguchi, Akihiko Kudo, Shintaro Fujii, Ikuko Iwata, Taichi Nomura, Mamiko Anada, Kosuke Iwami, Masanao Yoshino, Daiki Tanaka, Keiichi Mizushima, Hisashi Uwatoko, Shinichi Shirai, Masaaki Matsushima, Akio Kimura, Keiko Tanaka, Ichiro Yabe
Journal of the neurological sciences, 467, 123306, 123306, 15 Dec. 2024, [International Magazine]
English - Anti-Tr/DNER Antibody-associated Paraneoplastic Neurological Syndrome Presenting Limbic Encephalitis with Anaplastic Large Cell Lymphoma: A Case Report.
Shintaro Fujii, Hiroaki Yaguchi, Ikuko Takahashi-Iwata, Takashi Inoue, Monami Tarisawa, Taichi Nomura, Akihiko Kudo, Hisashi Uwatoko, Shinichi Shirai, Masaaki Matsushima, Riku Miyaishi, Noriyuki Otsuka, Keiko Tanaka, Koji Taniguchi, Masato Takahashi, Shinya Tanaka, Ichiro Yabe
Internal medicine (Tokyo, Japan), 12 Dec. 2024, [Domestic magazines]
English, Scientific journal, An 82-year-old man presented with acute progressive disturbance of consciousness. We suspected autoimmune limbic encephalitis because of abnormal magnetic resonance imaging findings in the bilateral temporal lobes and cerebrospinal fluid pleocytosis. The patient tested positive for anti-Tr/Delta/Notch-like epidermal growth factor-related receptor (DNER) antibodies, and a tissue biopsy revealed complications of anaplastic large cell lymphoma. Typically, anti-Tr/DNER antibody-associated paraneoplastic neurological syndrome presents with cerebellar ataxia and is complicated by Hodgkin lymphoma (HL). However, there are rare cases that present only with LE and are complicated by tumors other than HL; therefore, aggressive antibody measurement and search for tumors are important. - Pathological study of progressive supranuclear palsy the cases with mutations in
Bassoon
Masahiro Wakita, Hiroaki Yaguchi, Mika Otuski, Satoshi Tanikawa, Yasuo Miki, Ikuko Aiba, Mari Yoshida, Taichi Nomura, Hisashi Uwatoko, Yasunori Mito, Kazuyoshi Sinpo, Takeshi Ikeuchi, Shinya Tanaka, Koichi Wakabayashi, Ichiro Yabe
Neuropathology, Wiley, 31 Oct. 2024
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. - 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 - 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, 27 Sep. 2024, [International Magazine]
English CAG Repeat Expansion inTHAP11 Is Not Detected in a Cohort with Spinocerebellar Ataxia from Hokkaido, the Northernmost Island of Japan
Shinichi Shirai, Keiichi Mizushima, Yuka Shibata, Masaaki Matsushima, Ikuko Iwata, Hiroaki Yaguchi, Ichiro Yabe
Movement Disorders, 39, 9, 1657, 1658, Wiley, 17 Sep. 2024
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 (Tokyo, Japan), 01 Aug. 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. - Feasibility of differentiating gait in Parkinson's disease and spinocerebellar degeneration using a pose estimation algorithm in two-dimensional video.
Katsuki Eguchi, Hiroaki Yaguchi, Hisashi Uwatoko, Yuki Iida, Shinsuke Hamada, Sanae Honma, Asako Takei, Fumio Moriwaka, Ichiro Yabe
Journal of the neurological sciences, 464, 123158, 123158, 30 Jul. 2024, [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. - 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 - 今月の症例 腎移植30年後に発症した中枢神経原発移植後リンパ増殖性疾患の1例
石川 楓, 白井 慎一, 上床 尚, 岩田 育子, 松島 理明, 松川 敏大, 山口 秀, 矢口 裕章, 外丸 詩野, 矢部 一郎
日本内科学会雑誌, 113, 6, 980, 985, (一社)日本内科学会, Jun. 2024
Japanese - Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.
Satoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, Eriko Koshimizu, Naoki Kihara, Tomoyasu Matsubara, Yasuko Mori, Kenjiro Kunieda, Yusaku Shimizu, Tomoko Toyota, Shinichi Shirai, Masaaki Matsushima, Masaki Okubo, Taishi Wada, Misako Kunii, Ken Johkura, Ryosuke Miyamoto, Yusuke Osaki, Takabumi Miyama, Mai Satoh, Atsushi Fujita, Yuri Uchiyama, Naomi Tsuchida, Kazuharu Misawa, Kohei Hamanaka, Haruka Hamanoue, Takeshi Mizuguchi, Hiroyuki Morino, Yuishin Izumi, Takayoshi Shimohata, Kunihiro Yoshida, Hiroaki Adachi, Fumiaki Tanaka, Ichiro Yabe, Naomichi Matsumoto
Journal of neurology, neurosurgery, and psychiatry, 30 May 2024, [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 of FGF14 repeat expansion to elucidate its repeat motifs and pathogenicity. METHODS: We screened FGF14 repeat 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 of FGF14 repeat 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)≥250 and (GAA)≥200 were enriched in patients, whereas (GAA-GCA)≥200 was similarly observed in patients and controls, suggesting the pathogenic threshold of (GAA)≥200 for 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)≥250 in the Japanese population than in Caucasians (0.15% vs 0.32%-1.26%). CONCLUSIONS: FGF14 repeat expansion has unique features of pathogenicity and allelic origin, as revealed by a single ethnic study. - Lambert-Eaton Myasthenic Syndrome Complicated by Anti-GABAB 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 (Tokyo, Japan), 63, 9, 1295, 1300, 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.
Shinichi Shirai, Keiichi Mizushima, Yuka Shibata, Masaaki Matsushima, Ikuko Iwata, Hiroaki Yaguchi, Ichiro Yabe
Journal of the neurological sciences, 122974, 122974, 20 Mar. 2024, [International Magazine]
English - FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients.
Masaaki Matsushima, Hiroaki Yaguchi, Eriko Koshimizu, Akihiko Kudo, Shinichi Shirai, Takeshi Matsuoka, Shigehisa Ura, Atsushi Kawashima, Toshiyuki Fukazawa, Satoko Miyatake, Naomichi Matsumoto, Ichiro Yabe
Journal of neurology, 12 Mar. 2024, [International Magazine]
English - 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
Japanese - Behavioral and histological analyses of the mouse Bassoon p.P3882A mutation corresponding to the human BSN p.P3866A mutation.
Daiki Tanaka, Hiroaki Yaguchi, Kaichi Yoshizaki, Akihiko Kudo, Fumiaki Mori, Taichi Nomura, Jing Pan, Yasuo Miki, Hidehisa Takahashi, Taichi Hara, Koichi Wakabayashi, Ichiro Yabe
Frontiers in neuroscience, 18, 1414145, 1414145, 2024, [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. - A retrospective study of autoimmune cerebellar ataxia over a 20-year period in a single institution.
Akihiko Kudo, Hiroaki Yaguchi, Keiko Tanaka, Akio Kimura, Ichiro Yabe
Journal of neurology, 271, 1, 553, 563, Jan. 2024, [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. - Differentiation of speech in Parkinson's disease and spinocerebellar degeneration using deep neural networks.
Katsuki Eguchi, Hiroaki Yaguchi, Ikue Kudo, Ibuki Kimura, Tomoko Nabekura, Ryuto Kumagai, Kenichi Fujita, Yuichi Nakashiro, Yuki Iida, Shinsuke Hamada, Sanae Honma, Asako Takei, Fumio Moriwaka, Ichiro Yabe
Journal of neurology, 21 Nov. 2023, [International Magazine]
English, 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. - Case series: Downbeat nystagmus in SCA27B.
Shinichi Shirai, Keiichi Mizushima, Keishi Fujiwara, Eriko Koshimizu, Masaaki Matsushima, Satoko Miyatake, Ikuko Iwata, Hiroaki Yaguchi, Naomichi Matsumoto, Ichiro Yabe
Journal of the neurological sciences, 454, 120849, 120849, 15 Nov. 2023, [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. - 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 - 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 - Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan
Keiichi Mizushima, Yuka Shibata, Shinichi Shirai, Masaaki Matsushima, Satoko Miyatake, Ikuko Iwata, Hiroaki Yaguchi, Naomichi Matsumoto, Ichiro Yabe
Journal of Human Genetics, 17 Oct. 2023, [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.
Katsuki Eguchi, Ichigaku Takigawa, Shinichi Shirai, Ikuko Takahashi-Iwata, Masaaki Matsushima, Takahiro Kano, Hiroaki Yaguchi, Ichiro Yabe
BMC neurology, 23, 1, 358, 358, 05 Oct. 2023, [International Magazine]
English, Scientific journal, BACKGROUND: The diagnosis of Parkinson's disease (PD) and evaluation of its symptoms require in-person clinical examination. Remote evaluation of PD symptoms is desirable, especially during a pandemic such as the coronavirus disease 2019 pandemic. One potential method to remotely evaluate PD motor impairments is video-based analysis. In this study, we aimed to assess the feasibility of predicting the Unified Parkinson's Disease Rating Scale (UPDRS) score from gait videos using a convolutional neural network (CNN) model. METHODS: We retrospectively obtained 737 consecutive gait videos of 74 patients with PD and their corresponding neurologist-rated UPDRS scores. We utilized a CNN model for predicting the total UPDRS part III score and four subscores of axial symptoms (items 27, 28, 29, and 30), bradykinesia (items 23, 24, 25, 26, and 31), rigidity (item 22) and tremor (items 20 and 21). We trained the model on 80% of the gait videos and used 10% of the videos as a validation dataset. We evaluated the predictive performance of the trained model by comparing the model-predicted score with the neurologist-rated score for the remaining 10% of videos (test dataset). We calculated the coefficient of determination (R2) between those scores to evaluate the model's goodness of fit. RESULTS: In the test dataset, the R2 values between the model-predicted and neurologist-rated values for the total UPDRS part III score and subscores of axial symptoms, bradykinesia, rigidity, and tremor were 0.59, 0.77, 0.56, 0.46, and 0.0, respectively. The performance was relatively low for videos from patients with severe symptoms. CONCLUSIONS: Despite the low predictive performance of the model for the total UPDRS part III score, it demonstrated relatively high performance in predicting subscores of axial symptoms. The model approximately predicted the total UPDRS part III scores of patients with moderate symptoms, but the performance was low for patients with severe symptoms owing to limited data. A larger dataset is needed to improve the model's performance in clinical settings. - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant.
Kazuki Yamada, Hiroaki Yaguchi, Megumi Abe, Kaede Ishikawa, Daiki Tanaka, Yuki Oshima, Akihiko Kudo, Hisashi Uwatoko, Shinichi Shirai, Ikuko Takahashi-Iwata, Masaaki Matsushima, Ichizo Nishino, Ichiro Yabe
Clinical neurology and neurosurgery, 228, 107670, 107670, 13 Mar. 2023, [International Magazine]
English - Autoimmune Cerebellar Ataxia
Yaguchi H, Yabe I
Clinical Experimental Neuroimmunology, 2023, [Lead author] - 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, 1402, 1410, 2023 - 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, 2023, [Lead author] - 【Best Articles of the Year】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, 1, 36, 2023 - Sez6l2 autoimmunity in a large cohort study
Abe M, Yaguchi H (corresponding author), 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 R, Takahashi H, Hatakeyama S, Takekoshi A, Kimura A, Shimohata T, Yabe I (corresponding author)
J Neurol Neurosurg Psychiatry, 94, 8, 667, 668, 2023, [Corresponding author], [International Magazine]
English - 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 - 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, 355, 日本末梢神経学会, Dec. 2022
Japanese - 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 - 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 - Practice of Hereditary ATTR Amyloidosis in Non-endemic Areas of Japan.
Masaaki Matsushima, Monami Tarisawa, Taichi Nomura, Yuki Oshima, Masanao Yoshino, Yuka Shibata, Masahiro Wakita, Shinichi Shirai, Ikuko Iwata, Hiroaki Yaguchi, Ichiro Yabe
Internal medicine (Tokyo, Japan), 19 Oct. 2022, [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. - 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 - Clinical features of anti-mitochondrial M2 antibody-positive myositis: case series of 17 patients.
Azusa Nagai, Toshiyuki Nagai, Hiroaki Yaguchi, Shintaro Fujii, Hisashi Uwatoko, Shinichi Shirai, Kazuhiro Horiuchi, Ikuko Iwata, Masaaki Matsushima, Shigehisa Ura, Toshihisa Anzai, Ichiro Yabe
Journal of the neurological sciences, 442, 120391, 120391, 28 Aug. 2022, [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. - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - Posterior Reversible Encephalopathy Syndrome Associated with COVID-19 in a Japanese Patient.
Hiroaki Yaguchi, Yasunori Mito, Fumihiro Kodama, Yasutaka Tajima
Internal medicine (Tokyo, Japan), 60, 18, 3055, 3056, 15 Sep. 2021, [Domestic magazines]
English, Scientific journal - Enhancement of the Trigeminal Nerve by VZV Reactivation.
Hiroaki Yaguchi, Yasunori Mito, Satoshi Terae, Yasutaka Tajima
Internal medicine (Tokyo, Japan), 60, 15, 2507, 2508, 01 Aug. 2021, [Domestic magazines]
English, Scientific journal - 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 - New onset refractory status epilepticus(NORSE)に対する強化免疫療法の非常に良好な治療成績(An entirely favorable outcome of intensive immunotherapies for new onset refractory status epilepticus(NORSE))
佐藤 朝之, 矢口 裕章, 片岡 浩, 児玉 文宏, 板垣 有紀, 水戸 泰紀, 田島 康敬, 田中 惠子
日本救急医学会雑誌, 31, 11, 1135, 1135, (一社)日本救急医学会, Nov. 2020
English - A substrate-trapping strategy to find E3 ubiquitin ligase substrates identifies Parkin and TRIM28 targets.
Masashi Watanabe, Yasushi Saeki, Hidehisa Takahashi, Fumiaki Ohtake, Yukiko Yoshida, Yusuke Kasuga, Takeshi Kondo, Hiroaki Yaguchi, Masanobu Suzuki, Hiroki Ishida, Keiji Tanaka, Shigetsugu Hatakeyama
Communications biology, 3, 1, 592, 592, 20 Oct. 2020, [International Magazine]
English, Scientific journal, The identification of true substrates of an E3 ligase is biologically important but biochemically difficult. In recent years, several techniques for identifying substrates have been developed, but these approaches cannot exclude indirect ubiquitination or have other limitations. Here we develop an E3 ligase substrate-trapping strategy by fusing a tandem ubiquitin-binding entity (TUBE) with an anti-ubiquitin remnant antibody to effectively identify ubiquitinated substrates. We apply this method to one of the RBR-type ligases, Parkin, and to one of the RING-type ligases, TRIM28, and identify previously unknown substrates for TRIM28 including cyclin A2 and TFIIB. Furthermore, we find that TRIM28 promotes cyclin A2 ubiquitination and degradation at the G1/S phase and suppresses premature entry into S phase. Taken together, the results indicate that this method is a powerful tool for comprehensively identifying substrates of E3 ligases. - Relations of clinical symptoms with dopamine transporter imaging in drug-naïve Parkinson's disease.
Yasunori Mito, Ichiro Yabe, Hiroaki Yaguchi, Chika Sato, Toshiki Takei, Satoshi Terae, Yasutaka Tajima
Clinical neurology and neurosurgery, 196, 105960, 105960, Sep. 2020, [International Magazine]
English, Scientific journal, OBJECTIVES: The aim of the present study was to determine the relations of clinical symptoms with nigrostriatal neuron loss in drug-naïve patients with Parkinson's disease (PD). We examined the severity of motor symptoms and freezing of gait (FOG), falls and overactive bladder (OAB) in PD patients and their relations with striatal dopamine transporter (DAT) binding. PATIENTS AND METHODS: Thirty-two untreated PD patients (14 men and 18 women with a mean age of 71.4 ± 7.2 years) were included in this study. Clinical assessments were performed by using Unified Parkinson's Disease Rating Scale (UPDRS) and overactive bladder symptom score (OABSS), and striatal dopamine transporter (DAT) binding was measured by123I-FP-CIT SPECT. RESULTS: The results showed that striatal DAT availability was significantly lower in the high UPDRS motor score group, high akinetic-rigid score group, FOG group, and OAB group than in the low UPDRS motor score group, low akinetic-rigid score group, non-FOG group, and non-OAB group. However, the results also showed that there was no significant difference in striatal DAT availability between the high tremor score group and low tremor score group or between the faller group and non-faller group. CONCLUSIONS: The severity of bradykinesia and axial symptoms and the existence of FOG and OAB in untreated PD patients are related to a decrease in striatal DAT availability. Severity of tremors and occurrence of falls are not related to a decrease in striatal DAT availability. The mechanisms underlying the clinical symptoms of PD involve not only dopaminergic pathways but also non-dopaminergic pathways. - Relationships of drooling with motor symptoms and dopamine transporter imaging in drug-naïve Parkinson's disease.
Yasunori Mito, Ichiro Yabe, Hiroaki Yaguchi, Chika Sato, Toshiki Takei, Satoshi Terae, Yasutaka Tajima
Clinical neurology and neurosurgery, 195, 105951, 105951, Aug. 2020, [International Magazine]
English, Scientific journal, OBJECTIVES: The aim of the present study was to determine the relationships of drooling with motor symptoms and nigrostriatal neuron loss in drug-naïve patients with Parkinson's disease (PD). We therefore examined the relationships of drooling with motor symptoms and striatal dopamine transporter (DAT) binding measured by [123-Iodine]-fluoropropyl-2beta-carbomethoxy-3beta-(4-iodophenylnortropane) dopamine transporter single-photon emission computed tomography(123I-FP-CIT SPECT). PATIENTS AND METHODS: Thirty-five untreated PD patients (14 men and 21 women with a mean age of 71.9 ± 7.2 years) were included in this study. The patients were divided into a drooler group and non-drooler group. They underwent clinical assessments and 123I-FP-CIT SPECT imaging. Motor symptoms were assessed using Unified Parkinson's Disease Rating Scale (UPDRS). RESULTS: The results showed that UPDRS motor score (p = 0.002) and akinetic-rigid score (p = 0.008) were higher and that striatal DAT availability (p = 0.03) was lower in the drooler group than in the non-drooler group. However, tremor score, age, and duration of PD showed no significant differences between the drooler group and non-drooler group. CONCLUSIONS: Drooling in untreated PD is related to an increase in motor symptoms (especially bradykinesia and axial symptoms) and to reduction of striatal DAT availability. - 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]
Scientific journal - Non-motor Comorbidity of Myasthenia Gravis: Myasthenia Gravis as a Systemic Immunological Disorder Involving Non-motor Systems.
Yasutaka Tajima, Hiroaki Yaguchi, Yasunori Mito
Internal medicine (Tokyo, Japan), 58, 9, 1341, 1347, 01 May 2019, [Domestic magazines]
English, Scientific journal, To explore non-motor comorbidities of myasthenia gravis (MG), we present two cases of thymoma-associated MG patients. Alopecia, pure red cell aplasia, and thymoma- associated multiorgan autoimmunity were observed in Case 1, and alopecia, thrombocytopenia, hypogammaglobulinemia and nephrotic syndrome were observed in Case 2. In both cases, autoreactive T lymphocytes inappropriately stimulated by thymus tissue may have played key roles in generating the various autoimmune-associated symptoms. Consequently, systemic immunological involvement due to the thymoma-associated breakdown of immunoregulations in both motor and non-motor systems should be considered in MG patients. - Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Kei Murayama, Akira Ohtake, Masahiro Ando, Yu Hiramatsu, Satoshi Ishihara, Hajime Tanabe, Yuji Okamoto, Eiji Matsuura, Takehiro Ueda, Tatsushi Toda, Sumimasa Yamashita, Kenichiro Yamada, Takashi Koide, Hiroaki Yaguchi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Ken Sato, Masanori Nakagawa, Masamitsu Yamaguchi, Shoji Tsuji, Hiroshi Takashima
Brain : a journal of neurology, 141, 6, 1622, 1636, 01 Jun. 2018, [Peer-reviewed], [International Magazine]
English, Scientific journal, Several genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochrome c oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations in COA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT. We also found that all four patients had characteristic neurological features of peripheral neuropathy and ataxia with cerebellar atrophy, and some patients showed leukoencephalopathy or spinal cord atrophy on MRI scans. Validated mutations were located at highly conserved residues among different species and segregated with the disease in each family. Nerve conduction studies showed axonal sensorimotor neuropathy. Sural nerve biopsies showed chronic axonal degeneration with a marked loss of large and medium myelinated fibres. An immunohistochemical assay with an anti-COA7 antibody in the sural nerve from the control patient showed the positive expression of COA7 in the cytoplasm of Schwann cells. We also observed mildly elevated serum creatine kinase levels in all patients and the presence of a few ragged-red fibres and some cytochrome c oxidase-negative fibres in a muscle biopsy obtained from one patient, which was suggestive of subclinical mitochondrial myopathy. Mitochondrial respiratory chain enzyme assay in skin fibroblasts from the three patients showed a definitive decrease in complex I or complex IV. Immunocytochemical analysis of subcellular localization in HeLa cells indicated that mutant COA7 proteins as well as wild-type COA7 were localized in mitochondria, which suggests that mutant COA7 does not affect the mitochondrial recruitment and may affect the stability or localization of COA7 interaction partners in the mitochondria. In addition, Drosophila COA7 (dCOA7) knockdown models showed rough eye phenotype, reduced lifespan, impaired locomotive ability and shortened synaptic branches of motor neurons. Our results suggest that loss-of-function COA7 mutation is responsible for the phenotype of the presented patients, and this new entity of disease would be referred to as spinocerebellar ataxia with axonal neuropathy type 3. - 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 - 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. - Possible combined central and peripheral demyelination presenting as optic neuritis, cervical myelitis, and demyelinating polyneuropathy with marked nerve hypertrophy
Yasutaka Tajima, Mariko Matsumura, Hiroaki Yaguchi, Yasunori Mito
Internal Medicine, 57, 6, 867, 871, Japanese Society of Internal Medicine, 2018, [Peer-reviewed]
English, Scientific journal - Fatal meningoencephalomyelitis due to the tick-borne encephalitis virus: The first detailed neurological observation in a Japanese patient from the central part of Hokkaido Island
Yasutaka Tajima, Hiroaki Yaguchi, Yasunori Mito
Internal Medicine, 57, 6, 873, 876, Japanese Society of Internal Medicine, 2018, [Peer-reviewed]
English, Scientific journal - A case of vogt-koyanagi-harada disease with multiple recurrences of meningitis
Junya Mori, Hirotomo Miyamoto, Takamasa Kionoshita, Miho Shimizu, Masanori Iwasaki, Yukiko Shibata, Hiroaki Yaguchi, Yasunori Mito, Yasutaka Tajima, Hiroko Imaizumi
Japanese Journal of Clinical Ophthalmology, 72, 1, 83, 89, Jan. 2018
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 - Unique central nervous system involvement and leukoencephalopathy-like magnetic resonance imaging findings in a patient with neuromyelitis optica spectrum disorder with Sjögren's syndrome
Yasutaka Tajima, Hiroaki Yaguchi, Yasunori Mito
Clinical and Experimental Neuroimmunology, 8, 3, 255, 257, Wiley-Blackwell, 01 Aug. 2017, [Peer-reviewed]
English, Scientific journal - 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 - Amyotrophic lateral sclerosis with frontotemporal dementia (ALS-FTD) syndrome as a phenotype of Creutzfeldt-Jakob disease (CJD)? A case
Hiroaki Yaguchi, Akiko Takeuchi, Kazuhiro Horiuchi, Ikuko Takahashi, Shinnichi Shirai, Sachiko Akimoto, Katsuya Satoh, Fumio Moriwaka, Ichiro Yabe, Hidenao Sasaki
JOURNAL OF THE NEUROLOGICAL SCIENCES, 372, 444, 446, Jan. 2017, [Peer-reviewed]
English - 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 - 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 - MR Images in a Patient with Chronic Toluene Poisoning
Taichi Nomura, Hiroaki Yaguchi, Yasunori Mito, Yasutaka Tajima
INTERNAL MEDICINE, 55, 7, 851, 852, 2016, [Peer-reviewed]
English - Two Cases of Human T-Lymphotropic Virus Type I-Associated Myelopathy/Tropical Spastic Paraparesis Caused by Living-Donor Renal Transplantation.
Tajima Y, Matsumura M, Yaguchi H, Mito Y
Case reports in neurological medicine, 2016, 4203079, 4203079, 2016, [Peer-reviewed], [International Magazine]
English, Scientific journal, In rare instances, recipients of organ transplants from human T-lymphotropic virus type I- (HTLV-I-) positive donors reportedly developed neurologic symptoms due to HTLV-I-associated myelopathy (HAM). We present herein two cases of HAM associated with renal transplantation from HTLV-I seropositive living-donors. The first patient was a 42-year-old woman with chronic renal failure for twelve years and seronegative for HTLV-I. She underwent renal transplantation with her HTLV-I seropositive mother as the donor, and she developed HAM three years after the transplantation. The second patient was a 65-year-old man who had been suffering from diabetic nephropathy. He was seronegative for HTLV-I and underwent renal transplantation one year previously, with his HTLV-I seropositive wife as the donor. He developed HAM eight months after renal transplantation. Both cases showed neurological improvements after the immunomodulating therapies. We tried to shed some light on the understanding of immunological mechanisms of transplantation-associated HAM, focusing on therapeutic strategies based on the immunopathogenesis of the condition. - Importance of T1-MRI enhanced pyramidal tracts in differential diagnosis as to paraneoplastic encephalomyelitis
Hiroaki Yaguchi, Kazufumi Tsuzaka, Shinichi Shirai, Masaaki Niino, Tatsuro Takahashi, Keiko Tanaka, Ichiro Yabe, Hidenao Sasaki
CLINICAL NEUROLOGY AND NEUROSURGERY, 132, 9, 11, May 2015, [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 - Pure motor monoparesis of the leg after carbon monoxide intoxication
Yasutaka Tajima, Chika Satoh, Hiroaki Yaguchi, Yasunori Mito
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 85, 11, 1286, 1287, Nov. 2014, [Peer-reviewed]
English - 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 - 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 - Pathological study of subacute autoimmune encephalopathy with anti-AQP4 antibodies in a pregnant woman
Hiroaki Yaguchi, Ichiro Yabe, Yoshiki Takai, Tatsuro Misu, Masaaki Matsushima, Toshiyuki Takahashi, Kanako C. Kubota, Sachiko Akimoto, Kazuo Fujihara, Hidenao Sasaki
MULTIPLE SCLEROSIS JOURNAL, 18, 5, 683, 687, May 2012, [Peer-reviewed]
English, Scientific journal - Decreased interferon-alpha production in response to CpG DNA dysregulates cytokine responses in patients with multiple sclerosis
Makoto Hirotani, Masaaki Niino, Toshiyuki Fukazawa, Hiroaki Yaguchi, Masakazu Nakamura, Seiji Kikuchi, Hidenao Sasaki
CLINICAL IMMUNOLOGY, 143, 2, 145, 151, May 2012, [Peer-reviewed]
English, Scientific journal - TRIM67 Protein Negatively Regulates Ras Activity through Degradation of 80K-H and Induces Neuritogenesis
Hiroaki Yaguchi, Fumihiko Okumura, Hidehisa Takahashi, Takahiro Kano, Hiroyuki Kameda, Motokazu Uchigashima, Shinya Tanaka, Masahiko Watanabe, Hidenao Sasaki, Shigetsugu Hatakeyama
JOURNAL OF BIOLOGICAL CHEMISTRY, 287, 15, 12050, 12059, Apr. 2012, [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 - MRI and pathological findings of rheumatoid meningitis
Masaaki Matsushima, Hiroaki Yaguchi, Masaaki Niino, Sachiko Akimoto-Tsuji, Ichiro Yabe, Katsunori Onishi, Hidenao Sasaki
JOURNAL OF CLINICAL NEUROSCIENCE, 17, 1, 129, 132, Jan. 2010, [Peer-reviewed]
English, Scientific journal - MERRF/MELAS overlap syndrome: A double pathogenic mutation in mitochondrial tRNA genes
Nakamura M, Yabe I, Sudo A, Hosoki K, Yaguchi H, Saitoh S, Sasaki H
Journal of Medical Genetics, 47, 10, 659, 664, BMJ Publishing, 2010, [Peer-reviewed]
English - 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 - 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 - Aseptic Meningitis with Relapsing Polychondritis Mimicking Bacterial Meningitis
Hiroaki Yaguchi, Kazufumi Tsuzaka, Masaaki Niino, Ichiro Yabe, Hidenao Sasaki
INTERNAL MEDICINE, 48, 20, 1841, 1844, 2009, [Peer-reviewed]
English, Scientific journal - Transient subacute cerebellar ataxia in a patient with Lambert-Eaton myasthenic syndrome after intracranial aneurysm surgery
Masakazu Nakamura, Ichiro Yabe, Kazunori Sato, Fumihito Nakano, Hiroaki Yaguchi, Sachiko Tsuji, Hirokazu Shiraishi, Makoto Yoneda, Keiko Tanaka, Masakatsu Motomura, Hidenao Sasaki
CLINICAL NEUROLOGY AND NEUROSURGERY, 110, 5, 480, 483, May 2008, [Peer-reviewed]
English, 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 - [Successful treatment of a Lambert-Eaton myasthenic syndrome patient with 3,4-diaminopyridine].
Matsushima M, Yaguchi H, Kishimoto R, Tsuji S, Yabe I, Sasaki H, Nakadate M, Shiraishi H, Motomura M
Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine, 96, 8, 1709, 1711, The Japanese Society of Internal Medicine, Aug. 2007, [Peer-reviewed]
Japanese, Lambert-Eaton筋無力症候群（LEMS）は肺小細胞癌を高率に合併する傍腫瘍性症候群である．しばしばLEMSは肺小細胞癌の診断に先行して発症する．LEMSの治療においては3,4-diaminopyridine（3,4-DAP）が臨床症状の改善に効果的であることが報告されており，欧米では3,4-DAPが治療の第一選択薬とされている．しかしながら，本邦では3,4-DAPは治療薬剤として認められていない．今回我々は担癌LEMS患者に3,4-DAPを投与し有効であった．3,4-DAPはLEMSの有効な治療薬であるので，本邦においても保険診療下での使用が可能になることが望まれる． - Scapular winging as a symptom of cervical flexion myelopathy
Hiroaki Yaguchi, Ikuko Takahashi, Jun Tashiro, Sachiko Tsuji, Ichiro Yabe, Hidenao Sasaki
INTERNAL MEDICINE, 46, 8, 511, 513, 2007, [Peer-reviewed]
English, Scientific journal - Dropped head sign as the only symptom of myasthenia gravis
Hiroaki Yaguchi, Asako Takei, Sanae Honma, Isao Yamashita, Shizuki Doi, Takeshi Hamada
INTERNAL MEDICINE, 46, 11, 743, 745, 2007, [Peer-reviewed]
English, Scientific journal - A case of acute urinary retention caused by periaqueductal grey lesion
H Yaguchi, H Soma, Y Miyazaki, J Tashiro, Yabe, I, S Kikuchi, H Sasaki, H Kakizaki, F Moriwaka, K Tashiro
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 75, 8, 1202, 1203, Aug. 2004, [Peer-reviewed]
English - 急性小脳炎の2例
宮崎 雄生, 矢口 裕章, 田代 淳, 相馬 広幸, 緒方 昭彦, 菊地 誠志, 佐々木 秀直, 森若 文雄, 田代 邦雄, 柳原 哲郎
臨床神経学, 42, 9, 900, 900, (一社)日本神経学会, Sep. 2002
Japanese
Other Activities and Achievements
- 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 - 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 - 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 - 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 - 遺伝性ニューロパチーの2つの新規遺伝子MMEとCOA7の同定
樋口 雄二郎, 橋口 昭大, 袁 軍輝, 吉村 明子, 岡本 裕嗣, 松浦 英治, 矢部 勇, 上田 健博, 小出 隆司, 矢口 裕章, 三井 純, 石浦 浩之, 中川 正法, 森下 真一, 戸田 達史, 辻 省次, 高嶋 博, 臨床神経学, 59, Suppl., S364, S364, Nov. 2019
(一社)日本神経学会, Japanese, Summary national conference - 腎移植後の難治性VZV脊髄炎を発症した1例
川代 啓太, 原田 浩, 矢口 裕章, 田中 博, 福澤 信之, 千葉 博基, 川口 愛, 広瀬 貴行, 見附 明彦, 坪内 駿, 泌尿器外科, 31, 臨増, 820, 820, Jun. 2018
医学図書出版(株), 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 - 家族性進行性核上性麻痺の遺伝子解析に基づいた孤発性進行性核上性麻痺の遺伝子解析
矢部 一郎, 加藤 容崇, 谷川 聖, 三木 康生, 白井 慎一, 高橋 育子, 矢口 裕章, 藤岡 伸助, 國枝 保幸, 西原 広史, 田中 伸哉, 坪井 義夫, 若林 孝一, 佐々木 秀直, 臨床神経学, 56, Suppl., S317, S317, Dec. 2016
(一社)日本神経学会, Japanese - 抗神経抗体抗原であるSez6l2はAMPA受容体とADDの複合体を形成しシグナル伝達を促進する
矢口裕章, 矢口裕章, 矢口裕章, 高橋秀尚, 矢部一郎, 渡辺雅彦, 畠山鎮次, 佐々木秀直, Neuroimmunology, 20, 1, 79, 2015
Japanese - IgG4関連肥厚性硬膜炎の1例
加納 崇裕, 上床 尚, 白井 慎一, 高橋 育子, 松島 理明, 矢口 裕章, 廣谷 真, 佐藤 和則, 矢部 一郎, 佐々木 秀直, 臨床神経学, 54, 1, 89, 89, Jan. 2014
(一社)日本神経学会, Japanese - Neuromyelitis optica spectrum disorders accompanying subarachnoid hemorrhage and reversible white matter lesions.
Shirai, S, Mito, Y, Nojo, T, Yaguchi, H, Takahashi, T, Sato, K, Hirotani, M, Kano, T, Yabe, I. (corresponding, au, Sasaki, H, Neurology Clin Neurosci, 2, 1, 10, 12, 2014, [Peer-reviewed]
A 48-year-old man was admitted to Tomakomai City Hospital, Tomakomai, Japan, because of intractable hiccups and nausea, and orthostatic hypotension.Brain magnetic resonance imaging findings showed a dorsal medullary lesion. Respiratory failure occurred, and he underwent tracheotomy and mechanical ventilationwhen magnetic resonance imaging showed subarachnoid hemorrhage in addition to enlarged medullary lesions. Serum anti-aquaporin-4 antibody was positiveand the cerebrospinal fluid was bloody. We diagnosed meuromyelitis optica spectrum disorders complicating subarachnoid hemorrhage. He was treated with a steroid. Although extensive white matter lesions occurred transiently, the patient was discharged from the hospital when he became able to walk with the use of the walker on the 52nd day. We suggest that the subarachnoid hemorrhage and transient white matter lesions were associated with vascular damage associated with the meuromyelitis optica spectrum disorders., Wiley, English - 中枢神経原発血管炎5例の臨床像の検討
白井 慎一, 矢口 裕章, 上床 尚, 佐久嶋 研, 廣谷 真, 加納 崇裕, 矢部 一郎, 田中 伸哉, 佐々木 秀直, 臨床神経学, 53, 12, 1575, 1575, Dec. 2013
(一社)日本神経学会, Japanese - 多発性硬化症に対するFingolimod導入症例の検討
廣谷 真, 白井 慎一, 上床 尚, 矢口 裕章, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 53, 12, 1624, 1624, Dec. 2013
(一社)日本神経学会, Japanese - 筋強直性ジストロフィーに大脳白質病変を伴うNMO spectrum disordersを合併した1例
上床 尚, 白井 慎一, 矢口 裕章, 廣谷 真, 加納 崇裕, 矢部 一郎, 佐々木 秀直, 臨床神経学, 53, 4, 320, 320, Apr. 2013
(一社)日本神経学会, Japanese - 神経変性疾患に関する調査研究 DNAJB6遺伝子変異による肢帯型筋ジストロフィー(LGMD1D)に伴った前頭側頭型認知症の病理学的検討
SASAKI HIDENAO, YABE ICHIRO, TANINO MICHIE, YAGUCHI HIROAKI, TAKIYAMA AKIHIRO, SAI HANAE, HAYASHI YUKIKO, TANAKA SHIN'YA, 神経変性疾患に関する調査研究 平成24年度 総括・分担研究報告書, 137, 139, 2013
Japanese - DNAJB6遺伝子変異によるLGMDに伴った前頭側頭型認知症の病理学的検討
YABE ICHIRO, TANINO MICHIE, YAGUCHI HIROAKI, TAKIYAMA AKIHIRO, SAI KAEI, HAYASHI YUKIKO, TANAKA SHIN'YA, SASAKI HIDENAO, 日本神経学会学術大会プログラム・抄録集, 54th, 418, 2013
Japanese - 多発性脳神経ニューロパチーを伴った混合性クリオグロブリン血症の１例.
加納崇裕, 上床 尚, 白井慎一, 松島理明, 西村洋昭, 矢口裕章, 廣谷 真, 中馬 誠, 矢部一郎, 佐々木秀直, 末梢神経, 24, 311, 311, 2013, [Peer-reviewed]
Japanese - TRIM67は80K-Hを介してRasを抑制し, 神経突起形成を誘導する
矢口 裕章, 奥村 文彦, 高橋 秀尚, 加納 崇裕, 亀田 浩之, 内ヶ島 基政, 田中 伸哉, 渡辺 雅彦, 佐々木 秀直, 畠山 鎮次, 北海道醫學雜誌 = Acta medica Hokkaidonensia, 87, 4, 175, 175, 01 Aug. 2012
Japanese - Decreased interferon-α production in response to CpG DNA dysregulates cytokine responses in patients with multiple sclerosis
廣谷 真, 新野 正明, 深澤 俊行, 矢口 裕章, 中村 雅一, 菊地 誠志, 佐々木 秀直, 北海道醫學雜誌 = Acta medica Hokkaidonensia, 87, 2, 79, 79, 01 Apr. 2012
Japanese - 亜急性小脳失調症における自己抗体の検討
矢口裕章, 高橋秀尚, 奥村文彦, 加納崇裕, 加納崇裕, 竹内朗子, 堀内一宏, 廣谷真, 矢部一郎, 畠山鎮次, 佐々木秀直, 日本神経免疫学会学術集会抄録集, 24th, 90, 2012
Japanese - けいれん発作を主症状とするリウマチ性髄膜脳炎の1例
矢口 裕章, 白井 慎一, 堀内 一宏, 加納 崇裕, 矢部 一郎, 佐々木 秀直, てんかん研究, 29, 2, 425, 425, Sep. 2011
(一社)日本てんかん学会, Japanese - 妊婦健診では妊娠高血圧症候群を欠いた子癇の2例
佐久嶋研, 佐久嶋研, 水戸泰紀, 矢口裕章, 矢部一郎, 佐々木秀直, てんかんをめぐって, 29, 38-43, 43, 31 Mar. 2011
日本てんかん学会-北海道地方会, Japanese - Application of multi-electrode arrays for recording and stimulating in the cervical spinal cord of a sedated monkey
Kazuhiko Seki, Tomohiko Takei, Hiroaki Yaguchi, Tomomichi Oya, NEUROSCIENCE RESEARCH, 71, E88, E89, 2011
English, Summary international conference - 「筋萎縮性側索硬化症の病態に基づく画期的治療法の開発」神経突起様伸長及び増殖を制御するTRIM‐EN1/2の機能解析
佐々木秀直, 矢口裕章, 矢口裕章, 奥村文彦, 加納崇裕, 加納崇裕, 渡部昌, 内ケ島基政, 渡邊雅彦, 畠山鎮次, 筋萎縮性側索硬化症の病態に基づく画期的治療法の開発 平成22年度 総括研究報告書, 59-61, 2011
Japanese - 末梢神経障害を呈したミトコンドリア病の1例
八島 萌美, 松島 理明, 矢口 裕章, 秋本 幸子, 新野 正明, 矢部 一郎, 佐々木 秀直, 臨床神経学, 50, 8, 602, 602, Aug. 2010
(一社)日本神経学会, Japanese - IgG-κ型M蛋白産生髄外形質細胞腫に伴う末梢神経障害の1例
中野 史人, 矢部 一郎, 松島 理明, 堀内 一宏, 矢口 裕章, 加納 崇裕, 秋本 幸子, 新野 正明, 佐々木 秀直, 丸山 覚, 橋本 晃佳, 神経治療学, 26, 3, 310, 310, May 2009
日本神経治療学会, Japanese - 非担癌性Lambert-Eaton筋無力症候群の経過中に小脳性運動失調を合併した1例
中村 雅一, 中野 史人, 松島 理明, 矢口 裕章, 佐藤 和則, 辻 幸子, 新野 正明, 矢部 一郎, 佐々木 秀直, 臨床神経学, 47, 6, 373, 373, Jun. 2007
(一社)日本神経学会, Japanese - 神経疾患における静脈血栓塞栓症の発症リスクに関する検討
廣谷 真, 中村 雅一, 矢口 裕章, 松島 理明, 辻 幸子, 新野 正明, 矢部 一郎, 佐々木 秀直, 神経治療学, 24, 3, 352, 352, May 2007
日本神経治療学会, Japanese - 生検にて診断しステロイド大量療法にて軽快したRheumatoid meningitisの一例
矢口 裕章, 松島 理明, 佐久嶋 研, 中村 雅一, 辻 幸子, 新野 正明, 矢部 一郎, 佐々木 秀直, 神経免疫学, 15, 1, 127, 127, Apr. 2007
日本神経免疫学会, Japanese - 難治性てんかんの1例
矢口 裕章, 加納 崇裕, 高橋 育子, 松島 理明, 中野 史人, 辻 幸子, 矢部 一郎, 菊地 誠志, 佐々木 秀直, 武田 洋司, てんかんをめぐって, XXVI, 69, 69, Mar. 2007
日本てんかん学会-北海道地方会, Japanese - Charcot-Marie-Tooth病X型の1女性例
Basri Rehana, 矢部 一郎, 相馬 広幸, 松島 理明, 矢口 裕章, 加納 崇裕, 辻 幸子, 菊地 誠志, 佐々木 秀直, 臨床神経学, 46, 10, 729, 729, Oct. 2006
(一社)日本神経学会, Japanese - 片側性に急性外眼筋麻痺を呈した1例
松島 理明, 岸本 利一郎, 中村 雅一, 矢口 裕章, 辻 幸子, 矢部 一郎, 菊地 誠志, 佐々木 秀直, 臨床神経学, 46, 10, 730, 730, Oct. 2006
(一社)日本神経学会, Japanese - 大量ガンマグロブリン療法が著効したSjogren症候群に伴うneuropathyの重症例
矢口 裕章, 加納 崇裕, 佐藤 和則, 金塚 雄作, 松島 理明, 中野 史人, 中村 雅一, 辻 幸子, 矢部 一郎, 菊地 誠志, 佐々木 秀直, 臨床神経学, 46, 10, 730, 730, Oct. 2006
(一社)日本神経学会, Japanese - 呼吸不全をきたした移植片対宿主病多発性ニューロパチー
矢部一郎, 加納崇裕, 中野史人, 矢口裕章, 岸本利一郎, 辻 幸子, 菊地誠志, 佐々木秀直, 末梢神経, 17, 223, 224, 2006, [Peer-reviewed]
Japanese - ミカファンギン大量投与が著効した副鼻腔原発侵襲性アスペルギルス症の1例
宮城島拓人, 矢口裕章, 上田哲郎, 杉田純一, 小笹真理子, 町田望, 磯部正則, 吉田真子, 高橋達郎, 新薬と臨床, 53, 4, 494-498, 498, 10 Apr. 2004
Japanese - 呼吸筋麻ひを呈し,形質細胞腫摘出術が有効であったPOEMS症候群の一例
熊野弘毅, 小原雅人, 坂井俊哉, 藤本勝也, 遠藤知之, 小泉和輝, 矢口裕章, 佐藤典宏, 小池隆夫, 臨床血液, 44, 8, 817, 30 Aug. 2003
Japanese
Lectures, oral presentations, etc.
- 多発性単神経炎を呈した好酸球多発血管炎性肉芽腫症（EGPA）8例の治療経験
浦 茂久,脇田雅大,石川 楓,宮岸麻衣,矢口裕章,矢部一郎
第42回日本神経治療学会学術集会, 08 Nov. 2024, Japanese
07 Nov. 2024 - 09 Nov. 2024 - 本邦における自己免疫性小脳失調症の抗体測定体制の確立
矢口裕章,工藤彰彦,藤井信太朗,野村太一,江口克紀,矢部一郎
第42回日本神経治療学会学術集会〈シンポジウム13〉, 08 Nov. 2024, Japanese
07 Nov. 2024 - 09 Nov. 2024 - 進行期胆嚢癌を合併した，高齢男性における抗NMDA受容体脳炎の1例
石川 楓,宮岸麻衣,脇田雅大,浦 茂久,矢口裕章,矢部一郎
第42回日本神経治療学会学術集会, 07 Nov. 2024, Japanese
07 Nov. 2024 - 09 Nov. 2024 - 地域連携が塞栓源同定に有用であったESUSと診断されていた若年性脳梗塞の2例
浦 茂久,宮岸麻衣,石川 楓,脇田雅大,矢口裕章,矢部一郎,廣上 貢
第12回日本難病医療ネットワーク学会学術集会, 25 Oct. 2024, Japanese
25 Oct. 2024 - 26 Oct. 2024 - 自己免疫性脳炎診断と治療方針決定における脳波所見の重要性と今後の課題
矢口裕章,野村太一,工藤彰彦,藤井信太朗,矢部一郎
第54回日本臨床神経生理学会学術大会〈SY27-4〉, 26 Oct. 2024, Japanese
24 Oct. 2024 - 26 Oct. 2024 - 自己免疫性運動異常症～自己免疫性小脳失調症を中心に～
矢口裕章,工藤彰彦,藤井信太朗,野村太一,矢部一郎
第28回日本神経感染症学会総会・学術大会〈シンポジウム1〉, 11 Oct. 2024, Japanese
11 Oct. 2024 - 12 Oct. 2024 - 侵襲性G群溶連菌感染症による細菌性髄膜炎の1例
脇田雅大,宮岸麻衣,石川 楓,浦 茂久,矢口裕章,矢部一郎
第28回日本神経感染症学会総会・学術大会, 12 Oct. 2024, English
09 Oct. 2024 - 12 Oct. 2024 - NOTCH2NLC gene repeat variant found in clinically diagnosed multiple system atrophy
松島理明,上床 尚,白井慎一,岩田育子,矢口裕章,山田崇弘,矢部一郎
日本人類遺伝学会第69回大会, 12 Oct. 2024, English
09 Oct. 2024 - 12 Oct. 2024 - Recent Advances in Hereditary Spinocerebellar Ataxia
白井慎一,矢口裕章,矢部一郎
日本人類遺伝学会第69回大会〈シンポジウム18〉, 12 Oct. 2024, English
09 Oct. 2024 - 12 Oct. 2024 - Molecular characterization of SCA27B (GAA-FGF14 ataxia) in Japanese by nanopore sequencing
宮武聡子,土井 宏,矢口裕章,輿水江里子,水口 剛,森野豊之,和泉唯信,下畑亨良,吉田邦広,足立弘明,田中章景,矢部一郎,松本直通
日本人類遺伝学会第69回大会, 11 Oct. 2024, English
09 Oct. 2024 - 12 Oct. 2024 - 免疫沈降法とショットガンプロテオミクスによる自己抗体測定方法の開発
工藤彰彦,矢口裕章,渡部 昌,藤井信太朗,野村太一,上床 恵,上床 尚,白井慎一,岩田育子,松島理明,田中惠子,高橋秀尚,畠山鎮次,矢部一郎
第36回日本神経免疫学会学術集会, 05 Oct. 2024, Japanese
03 Oct. 2024 - 05 Oct. 2024 - オファツムマブ投与中のリンパ球減少についての検討
上床 尚,佐藤翔紀,矢口裕章,山田萌美,佐藤和則,川島 淳,深澤俊行,矢部一郎
第36回日本神経免疫学会学術集会, 04 Oct. 2024, Japanese
03 Oct. 2024 - 05 Oct. 2024 - 抗NMDA受容体脳炎発症1年半後に成熟嚢胞性奇形腫を認めた1例
石川 楓,瀬尾 祥,大岩 慧,宮岸麻衣,脇田雅大,浦 茂久,矢口裕章,矢部一郎
第36回日本神経免疫学会学術集会, 03 Oct. 2024, Japanese
03 Oct. 2024 - 05 Oct. 2024 - 自己免疫性小脳失調症に関連する自己抗体とレジストリ研究
矢口裕章,工藤彰彦,藤井信太朗,野村太一,矢部一郎
第36回日本神経免疫学会学術集会〈シンポジウム2〉, 03 Oct. 2024, Japanese
03 Oct. 2024 - 05 Oct. 2024 - Bassoon proteinopathy病態解析研究の進捗
矢口裕章,矢部一郎
厚生労働科学研究費補助金 難治性疾患政策研究事業「神経変性疾患領域における難病の医療水準の向上や患者のQOL向上に資する研究」令和6年（2024年）度ワークショップ, 19 Jul. 2024, Japanese - The results of behavioral and pathological analyses of bassoon knock-in mice
Tanaka D, Yaguchi H, Kudo A, Yoshizaki K, Nomura T, Hara T, Takahashi H, Miki Y, Mori F, Wakabayashi K, Yabe I
第65回日本神経学会学術大会, 01 Jun. 2024, English, Oral presentation
29 May 2024 - 01 Jun. 2024 - A retrospective study of autoimmune encephalitis over a 21-year period in a single institution
Kudo A, Yaguchi H, Nomura T, Uwatoko H, Shirai S, Iwata I, Matsushima M, Tanaka K, Kimura A, Watanabe O, Yoneda M, Yabe I
第65回日本神経学会学術大会, 31 May 2024, English, Poster presentation
29 May 2024 - 01 Jun. 2024 - 非流暢/失文法型原発性進行性失語（naPPA）の下位分類とその症候
大槻美佳,中川賀嗣,輿水修一,緒方昭彦,新保和賢,水戸泰紀,田島康敬,濱田晋輔,浦 茂久,金藤公人,保前英希,赤池 瞬,岩田育子,松島理明,矢口裕章,矢部一郎
第65回日本神経学会学術大会, 31 May 2024, Japanese, Oral presentation
29 May 2024 - 01 Jun. 2024 - Prevalence of autosomal dominant spinocerebellar ataxias in Hokkaido
Mizushima K, Shibata Y, Shirai S, Matsushima M, Miyatake S, Iwata I, Yaguchi H, Matsumoto N, Yabe I
第65回日本神経学会学術大会, 30 May 2024, English, Poster presentation
29 May 2024 - 01 Jun. 2024 - レセプトデータを用いた脊髄空洞症における移行期医療の実態調査（第二報）
白井慎一,江口克紀,財津將嘉,小橋 元,矢口裕章,中島健二,矢部一郎
第65回日本神経学会学術大会, 30 May 2024, Japanese, Poster presentation
29 May 2024 - 01 Jun. 2024 - 歩行動画と深層学習を利用した脊髄小脳変性症患者のSARA点数の予測
岩見昂亮,江口克紀,長井 梓,飯田有紀,濱田晋輔,本間早苗,武井麻子,森若文雄,矢口裕章,矢部一郎
第65回日本神経学会学術大会, 30 May 2024, Japanese, Poster presentation
29 May 2024 - 01 Jun. 2024 - 自己免疫性小脳失調症の診断基準の有用性と限界についての検討
竹腰 顕,木村暁夫,大野陽哉,吉倉延亮,矢口裕章,矢部一郎,下畑亨良
第65回日本神経学会学術大会, 30 May 2024, Japanese, Oral presentation
29 May 2024 - 01 Jun. 2024 - Establishment of a registry for autoimmune cerebellar ataxia and an assay system of autoantibodies
Fujii S, Yaguchi H, Kudo A, Eguchi K, Nomura T, Uwatoko H, Shirai S, Iwata I, Matsushima M, Hayashi H, Tanaka K, Yoneda M, Kimura A, Shimohata T, Takahashi Y, Mizusawa H, Yabe I
第65回日本神経学会学術大会, 30 May 2024, English, Oral presentation
29 May 2024 - 01 Jun. 2024 - First Report of familial ALS8 in Japan
Iwata I, Niino M, Tarisawa M, Uwatoko H, Shirai S, Matsushima M, Yaguchi H, Nakahara G, Miyatake S, Matsumoto N, Yabe I
第65回日本神経学会学術大会, 29 May 2024, English, Poster presentation
29 May 2024 - 01 Jun. 2024 - 自己免疫性脳炎～傍腫瘍性症候群を含めて
矢口裕章
第65回日本神経学会学術大会, 29 May 2024, Japanese, Public discourse
29 May 2024 - 01 Jun. 2024 - Bassoon遺伝子rare variantを有するパーキンソン症候群における神経病理学的検討
矢口裕章,谷川 聖,三木康生,饗場郁子,吉田眞理,池内 健,田中伸哉,若林孝一,矢部一郎
第65回日本神経病理学会総会学術研究会, 17 May 2024, Japanese, Poster presentation
16 May 2024 - 18 May 2024 - Sez6l2抗体陽性自己免疫性小脳失調症例のまとめ
矢口裕章,阿部 恵,工藤彰彦,藤井信太朗,野村太一,上床 尚,白井慎一,岩田育子,松島理明,竹腰 顕,木村暁夫,下畑亨良,矢部一郎
日本小脳学会第14回学術集会・総会, 16 Mar. 2024, Japanese
16 Mar. 2024 - 16 Mar. 2024 - 小脳失調患者の歩行動画と深層学習を利用した疾患鑑別および重症度予測に関する研究
江口克紀,長井 梓,飯田有紀,濱田晋輔,本間早苗,武井麻子,森若文雄,矢口裕章,矢部一郎
日本小脳学会第14回学術集会・総会, 16 Mar. 2024, Japanese - 本邦における自己免疫性小脳失調症レジストリ作成と診断基準作成の試み
矢口裕章,工藤彰彦,野村太一,江口克紀,田中恵子,米田 誠,木村暁夫,下畑亨良,矢部一郎
第41回日本神経治療学会学術集会, 05 Nov. 2023, Japanese, Oral presentation
03 Nov. 2023 - 05 Nov. 2023 - 多発性硬化症における緩和ケア
上床 尚,矢口裕章,深澤俊行
第41回日本神経治療学会学術集会, 05 Nov. 2023, Japanese
03 Nov. 2023 - 05 Nov. 2023 - 特発性小脳性運動失調症に類似する自己免疫性/傍腫瘍性疾患
矢口裕章,工藤彰彦,矢部一郎
第41回日本神経治療学会学術集会, 03 Nov. 2023, Japanese
03 Nov. 2023 - 05 Nov. 2023 - Perry disease mimics and interpretation of DCTN1 variants
Ikenaka K, Yaguchi H
2nd Perry disease international conference in Fukuoka, 21 Oct. 2023, English - 中枢神経感染症の診断と治療に対する髄液多項目核酸検査の効果
岩田育子,上床 尚,白井慎一,松島理明,矢口裕章,石黒信久,豊嶋崇徳,矢部一郎
第27回日本神経感染症学会総会・学術大会, 13 Oct. 2023, Japanese, Oral presentation
13 Oct. 2023 - 14 Oct. 2023 - 自己免疫性小脳失調症に対する免疫沈降法と質量分析法を用いた網羅的自己抗体測定方法の開発
工藤彰彦,矢口裕章,渡部 昌,上床 尚,白井慎一,岩田育子,松島理明,高橋秀尚,畠山鎮次,矢部一郎
第35回日本神経免疫学会学術集会, 15 Sep. 2023, Japanese
13 Sep. 2023 - 15 Sep. 2023 - 視神経脊髄炎関連疾患（NMOSD）に対するサトラリズマブの使用経験
上床 尚,佐藤翔紀,白井慎一,岩田育子,松島理明,矢口裕章,矢部一郎
第35回日本神経免疫学会学術集会, 14 Sep. 2023, Japanese, Poster presentation
13 Sep. 2023 - 15 Sep. 2023 - 音声データと深層学習を利用した運動低下性および失調性構音障害の鑑別
江口克紀,藤田賢一,中城雄一,濱田晋輔,飯田有紀,野中道夫,本間早苗,武井麻子,森若文雄,矢口裕章,矢部一郎
第17回パーキンソン病・運動障害疾患コングレス, 22 Jul. 2023, Japanese, Poster presentation
20 Jul. 2023 - 22 Jul. 2023 - Pathological study of PSP-like syndrome cases with mutations in BSN and BSN knock-in mice
Yaguchi H, Wakita M, Otsuki M, Tanikawa S, Miki Y, Kudo A, Nagai A, Uwatoko H, Mito Y, Yoshizaki K, Hara T, Ikeuchi T, Tanaka S, Wakabayashi K, Yabe I
第64回日本神経学会学術大会, 03 Jun. 2023, Poster presentation
31 May 2023 - 03 Jun. 2023 - フィンゴリモドの投与感覚と再発予防効果の検討
上床 尚, 佐藤翔紀, 山田萌美, 佐藤和則, 白井慎一, 岩田育子, 松島理明, 矢口裕章, 川島 淳, 深澤俊行, 矢部一郎
第64回日本神経学会学術大会, 03 Jun. 2023, Poster presentation
31 May 2023 - 03 Jun. 2023 - 単一施設におけるフマル酸ジメチル使用132例の後方視的検討
佐藤翔紀,上床 尚,矢口裕章,山田萌美,佐藤和則,川島 淳,深澤俊行,矢部一郎
第64回日本神経学会学術大会, 03 Jun. 2023, Poster presentation
31 May 2023 - 03 Jun. 2023 - A retrospective study of 335 patients with cerebellar ataxia
Kudo A, Yaguchi H, Mizushima K, Abe M, Nagai A, Uwatoko H, Shirai S, Iwata I, Matsushima M, Yabe I
第64回日本神経学会学術大会, 31 May 2023, Oral presentation
31 May 2023 - 03 Jun. 2023
Research Themes
- Mechanism analysis research of Bassoon proteinopathy
Grants-in-Aid for Scientific Research
01 Apr. 2023 - 31 Mar. 2026
矢部 一郎, 原 太一, 矢口 裕章, 池内 健, 高橋 秀尚, 若林 孝一
2016年-2019年基盤研究Cを拝受し、申請者は家族歴を有する進行性核上性麻痺（progressive supranuclear palsy; PSP）の家系例から、Bassoon（BSN）遺伝子の変異によりタウオパチーが発症し進展する可能性があることを発見した（Yabe I, et al. Sci Rep 2018; 8: 819）。BSN遺伝子変異による病理像は３リピートと４リピートのタウ蛋白質が蓄積するタウオパチーであり、海馬硬化を伴い既存の報告にない病態であることも示した。その結果、申請者の論文を引用し、Bassoon proteinopathyという疾患概念が提唱された (Schattling B, et al. Nat Neurosci 2019; 22; 887-896)。この先行研究に基づき、申請者らは2020年~2022年まで基盤研究B (Bassoon proteinopathyの病態解析研究）を拝受しBSNタンパク質がPSPなどのタウオパチーにおいてどのように発症にかかわるか解明を試みた。それらの研究成果に基づき共同研究を多施設間で展開しており、2023年度においては、複数例のBSN遺伝子変異を有する剖検例を神経病理学的に検討する機会を得た。いずれも４リピートタウタンパク優位の蓄積を伴う点で共通しており、それらの結果について論文投稿中である。また、それら剖検例に認められたBSN変異の病原性解析についても検討する予定である。また、われわれが世界で最初に見いだしたBSN変異を導入したノックインマウスも作成済みであり、12ヶ月齢までの行動解析と病理学的解析を行っている。これらの結果についても、論文投稿中である。
Japan Society for the Promotion of Science, Grant-in-Aid for Scientific Research (B), Hokkaido University, 23K27511 - 抗Sez6l2抗体関連脳炎の病態解明
科学研究費助成事業（学術研究助成基金助成金）
Apr. 2023 - Mar. 2026
日本学術振興会, 基盤研究（C）, Principal investigator - 自己免疫性脳炎における抗神経抗体のCBAに代わる新規迅速・定量的測定法の開発
科学研究費助成事業（学術研究助成基金助成金）
Apr. 2023 - Mar. 2026
松永 晶子, 矢口 裕章, 米田 誠
日本学術振興会, 基盤研究（C）, 福井県立大学, Coinvestigator, 23K06948 - 超希少難治性疾患である免疫介在性小脳性運動失調症の疾患レジストリ構築および治療法確立を目的としたエビデンス創出研究
難治性疾患実用化研究事業
Dec. 2022 - Mar. 2025
日本医療研究開発機構, Principal investigator - 小脳性運動失調症における自己抗体解析研究
科学研究費助成事業 若手研究
01 Apr. 2020 - 31 Mar. 2024
矢口 裕章
神経疾患において自己抗体（抗神経抗体）が注目されている。適切な診断と治療のために、自己免疫性小脳失調症の概念と診断方法の確立が必要である。申請者は、平成25年度に科研費（研究活動スタート支援）を拝受し研究を進め、既知の神経抗体が陰性である免疫介在性小脳失調症患者血清より2014年に新規自己抗体の抗Sez6l2抗体を同定した（Yaguchi et al. J Neurol 2014）。2018年には申請者は抗Sez6l2抗体の病原性を分子生物学的に証明した（Yaguchi et al. BBRC 2018, Yaguchi et al. J Neurol 2018）。2019年にはドイツから我々の実験データを基として抗Sez6l2抗体陽性の小脳失調症例が追加報告され(Borsche et al. J Neurol. 2019)その重要性が確認された。なお、2021年には欧州の世界最大の抗神経抗体研究グループ（Darumauら）から、免疫が関与する小脳性運動失調症95例中4例（4.2%）が抗Sez6l2抗体による小脳性運動失調症(Landa J et al. Neurol Neuroimmunol Neuroinflamm. 2020)であることを報告され、Sez6l2 Autoimmunityという概念が提示されていることより、日本国内でもcell-based assay (CBA)により複数例の検討が必要である。
本研究では第一に『多数例で抗Sez6l2抗体を測定することで抗Sez6l2抗体陽性者の疾患概念を確立』することが目標である。現時点では、①他施設との共同研究により検体の収集が終了している。さらに、②FLAG-Sez6l2をHEK293Tに過剰発現させ、患者血清と抗FLAG抗体（M5）を用いて、二重染色することで抗体陽性を診断するCBAも確立しており、現在その検討を当教室で施行し、診断精度の微調整を行っている最中である。
日本学術振興会, 若手研究, 北海道大学, 20K16481 - 免疫沈降-質量分析法を用いた網羅的抗原同定による免疫性神経疾患の診断方法の開発
医療研究開発推進事業費補助金
Apr. 2022 - Mar. 2024
日本医療研究開発機構, 橋渡し研究プログラム, Principal investigator - Bassoon proteinopathyの病態解析研究
科学研究費助成事業 基盤研究(B)
01 Apr. 2020 - 31 Mar. 2023
矢部 一郎, 原 太一, 矢口 裕章, 池内 健, 高橋 秀尚, 大塚 稔久, 若林 孝一, 畠山 鎮次
われわれは先行研究において、一部のタウオパチー発症に神経終末アクティブゾーンに存在するbassoon蛋白を翻訳するbassoon(BSN)遺伝子の変化を見出した。そのタウオパチーは３リピート(3R)と４リピート(4R)のタウ蛋白質が蓄積する新しい病態であることも示した。さらに、今までPSPと臨床診断していた患者を対象に遺伝子解析を実施したところ、その約10％にBSN遺伝子変化を同定した。このメカニズムとして分子生物学的手法を用いて、BSN遺伝子変異がタウタンパク質を不溶性分画に移行させる病原性があることを解明した。その結果、われわれの論文を引用し、Bassoon proteinopathyという疾患概念が提唱され、BSNタンパク質やBSN遺伝子と多発性硬化症、ハンチントン病、若年性パーキンソン病などの重要な神経疾患との関連が近年相次いで報告されている（Montenegro-Venegas C, et al. Autophagy 2020, Huang TT, et al. Acta Neuropathol Commun 2020, Hoffmann-Conaway S et al. Elife 2020）。当教室では現在このBSN遺伝子変化のPSPを始めとする神経難病への関与についてさらに検討を進めている。具体的には今回の研究では、①モデル動物と細胞株においてBSN遺伝子変異がタウオパチーを惹起する病態機序と同変異が治療標的となり得る可能性、②過去の研究報告からBSNが病態に関与している可能性がある認知症関連疾患、パーキンソン症候群、多系統萎縮症、多発性硬化症などの多様な神経疾患におけるBSN遺伝子変異関与の可能性、③血漿や髄液検体を用いてBSNタンパク質を測定し、BSNタンパク質量が診断および重症度バイオマーカーになり得る可能性、の3課題を中心に研究を遂行している。
日本学術振興会, 基盤研究(B), 北海道大学, 20H03585 - Identification of auto-antibody in cerebellar ataxia
Grants-in-Aid for Scientific Research Grant-in-Aid for Research Activity Start-up
30 Aug. 2013 - 31 Mar. 2016
Yaguchi Hiroaki
The importance of central nervous system syndrome associated with neuronal surface antibodies has been increasing. We previously reported a new anti-neuronal antibody, anti-Sez6l2 antibody. Sez6l2 is highly expressed in the hippocampus and cerebellar cortex and is one of the type 1 membrane proteins. This study showed that the patient serum recognized the extracellular domain of Sez6l2 and that Sez6l2 protein bound to both ADD protein and GluR1 protein. These results indicated the molecular mechanism of Sez6l2 that modulates the function of AMPA receptors and the pathogenesis of anti-Sez6l2 antibodies in the patient through the inhibition of direct binding between Sez6l2 and GluR1.
Japan Society for the Promotion of Science, Grant-in-Aid for Research Activity Start-up, Hokkaido University, 25893006
