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中村 勝哉  ナカムラ カツヤ

教員組織学術研究院(医学系(附属病院))電話番号0263-37-2618
教育組織医学部附属病院 遺伝子医療研究センターFAX番号0263-37-2619
職名講師メールアドレス
住所〒390-8621 長野県松本市旭3-1-1ホームページURLhttps://researchmap.jp/katsuya/?lang=english

更新日:2023/02/01

プロフィール

兼担研究科・学部
医学部 内科学第三教室
医学部附属病院 脳神経内科、リウマチ・膠原病内科
研究分野
神経遺伝学
神経内科学
臨床遺伝学
遺伝学
神経内科学
キーワード:神経遺伝学 , 運動失調症 , Ataxia
所属学会
所属学会
日本パーキンソン病・運動障害疾患学会
日本認知症学会
日本脳卒中学会
日本人類遺伝学会
日本神経学会
日本内科学会
日本遺伝カウンセリング学会
学歴
取得学位
博士(医学) , 信州大学

免許・資格等
2013 , 臨床遺伝専門医
2013 , 日本脳卒中学会脳卒中専門医、指導医
2009 , 日本神経学会神経内科専門医、指導医
2008 , 日本内科学会認定内科医、総合内科専門医、指導医
受賞学術賞
2014 , 信州大学医学部第三内科同窓会賞
研究職歴等
研究職歴
2018- , 信州大学医学部附属病院 遺伝子医療研究センター講師
2016-2018 , University of Florida Center for Neurogenetics Postdoctoral Associate
2013-2016 , 信州大学医学部附属病院 遺伝子診療部 講師
2013-2013 , 信州大学医学部 内科学第三 助教
2011-2013 , 諏訪赤十字病院 神経内科

留学歴
2016-2018 , University of Florida, Center for Neurogenetics

研究活動業績

研究業績(著書・
発表論文等)
書籍等出版物
遺伝カウンセリングマニュアル
南江堂 2016
Author:中村勝哉


難治性疾患の発症前診断をめぐって, 遺伝子診断の未来と罠
日本評論社 2014
Author:中村勝哉; 吉田邦広


Case Study 緩徐進行性の舌萎縮と四肢の運動・感覚障害、起立性低血圧を呈する68歳男性 (成人発症Triple A 症候群), すべてがわかるALS (筋萎縮性側索硬化症)・運動ニューロン疾患
中山書店 2013
Author:中村勝哉


論文
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant ofHTRA1
Neurology Genetics 2023(Feb.)
Author:Yasufumi Kondo; Tsuneaki Yoshinaga; Katsuya Nakamura; Tomomi Yamaguchi; Masumi Ishikawa; Tomoki Kosho; Yoshiki Sekijima


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
臨床神経学,62(10):773-780 2022(Oct.)
Author: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
Abstract:遺伝性神経・筋疾患に対する治療薬の開発・研究の進展により,早期治療を目的とした発症前診断と遺伝カウンセリングの必要性が増大すると予想されるが,本邦には発症前診断に対する統一した見解に基づく実施手順が存在しない.標準化された実施体制構築のための基礎資料とすることを目的に,全国の遺伝子医療部門を対象に現状調査を実施した(回答率67.4%).質問紙調査の結果,約60%の施設が発症前診断実施までの手順を独自に定めていたが,内容は施設により異なった.半構造化面接調査では,対象者の経験や見解から体制構築に必要な要因が抽出された.今後,体制構築の一助となる発症前診断に関する標準的な手順書が求められる.(著者抄録)


Clinical Features and Neuroimaging Findings of Neuropil Antibody-Positive Idiopathic Sporadic Ataxia of Unknown Etiology.
Cerebellum (London, England) 2022(Sep. 03)
Author:Akira Takekoshi; Akio Kimura; Nobuaki Yoshikura; Isamu Yamakawa; Makoto Urushitani; Katsuya Nakamura; Kunihiro Yoshida; Takayoshi Shimohata
Abstract:Idiopathic sporadic ataxia (ISA) is the clinical term for nonfamilial ataxia with adult-onset and a slowly progressive course. However, immune-mediated cerebellar ataxia cannot be completely excluded from ISA. The current study investigated the neuropil antibodies against cell-surface antigens and clarified the clinical features and neuroimaging findings of patients with these antibodies. Using tissue-based immunofluorescence assays (TBAs), we examined antibodies against the cerebellum in serum samples from 67 patients who met the ISA diagnostic criteria, including 30 patients with multiple system atrophy with predominant cerebellar features (MSA-C) and 20 patients with hereditary ataxia (HA), and 18 healthy control subjects. According to the TBA results, we divided subjects into three groups: subjects positive for neuropil antibodies, subjects positive for intracellular antibodies only, and subjects negative for antibodies. We compared clinical features and neuroimaging findings in ISA patients among these three groups. The prevalence of neuropil antibodies in ISA (17.9%) was significantly higher than that in MSA-C (3.3%), HA (0%), or healthy subjects (0%). The neuropil antibody-positive ISA patients showed pure cerebellar ataxia more frequently than the other ISA patients. Two neuropil antibody-positive patients showed significant improvement of cerebellar ataxia after immunotherapy. We detected neuropil antibodies in 17.9% of ISA patients. Characteristic clinical features of neuropil antibody-positive ISA patients were pure cerebellar ataxia. Some cases of neuropil antibody-positive ISA responded to immunotherapy.


Moyamoya Disease-like Cerebrovascular Stenotic Lesions Are an Important Phenotype of POEMS Syndrome-associated Vasculopathy.
Internal medicine (Tokyo, Japan),61(10):1603-1608 2022(May 15)
Author:Yusuke Takahashi; Yusuke Mochizuki; Katsuya Nakamura; Nagaaki Katoh; Yoshiki Sekijima
Abstract:A 41-year-old woman was diagnosed with polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome based on polyneuropathy, hepatosplenomegaly, sclerotic bone lesions, IgA-λ M-protein, and an elevated level of serum vascular endothelial growth factor. One month after the initiation of lenalidomide-dexamethasone with prophylactic aspirin, she developed facial paralysis, dysarthria, and left hemiplegia. Multiple cerebral infarctions and internal carotid artery stenosis were detected. Five months after switching to pomalidomide-dexamethasone, she again developed cerebral infarction. Progressed stenotic lesions in the bilateral internal carotid artery terminal portions were detected, showing a moyamoya disease-like appearance. Quasi-moyamoya disease can be an important phenotype of systemic vasculopathies of POEMS syndrome.


遺伝性神経疾患の遺伝カウンセリングと発症前診断
臨床神経学,61(9):588-593 2021(Sep.)
Author:中村 勝哉; 関島 良樹
Abstract:近年の遺伝子解析技術の進歩により,様々な遺伝性神経疾患の正確な診断が可能になっている.さらに,遺伝性ATTRアミロイドーシス,脊髄性筋萎縮症,デュシェンヌ型筋ジストロフィーでは,核酸医薬などの画期的な疾患修飾療法が登場しており,脳神経内科医にとって発症前診断への対応を含めた遺伝医療の知識と実践能力の重要性が増している.遺伝性神経疾患の患者のみならず,患者家族に対する遺伝カウンセリングの必要性も今後更に高まると考えられ,人材育成を含めた遺伝カウンセリング体制の整備が急務である.(著者抄録)


Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
American journal of medical genetics. Part A,185(7):2175-2179 2021(Apr. 21)
Author:Hiroaki Hanafusa; Yoshihiko Hidaka; Tomomi Yamaguchi; Hisashi Shimojo; Takanori Tsukahara; Tsubasa Murase; Daisuke Matsuoka; Nao Chiba; Shun Shimada; Hirokazu Morokawa; Norio Omori; Hironori Minoura; China Nagano; Kyoko Takano; Katsuya Nakamura; Keiko Wakui; Yoshimitsu Fukushima; Takeshi Uehara; Yozo Nakazawa; Kazumoto Iijima; Kandai Nozu; Tomoki Kosho
Abstract:Transient receptor potential channel C6 encoded by TRPC6 is involved in slit diaphragm formation in podocytes, and abnormalities of the TRPC6 protein cause various glomerular diseases. The first identified pathogenic variant of TRPC6 was found to cause steroid-resistant nephrotic syndrome that typically developed in adulthood and then slowly led to end-stage renal disease, along with a renal pathology of focal segmental glomerulosclerosis. Here, we report a patient with rapidly progressing infantile nephrotic syndrome and a heterozygous missense TRPC6 variant. The patient, a 2-year-old Japanese boy, developed steroid-resistant nephrotic syndrome at age 11 months. His renal function deteriorated rapidly, and peritoneal dialysis was introduced at age 1 year and 6 months. His renal pathology, obtained at age 1 year and 1 month, was consistent with diffuse mesangial sclerosis (DMS). Clinical exome analysis and custom panel analysis for hereditary renal diseases revealed a reported heterozygous missense variant in TRPC6 (NM_004621.5:c.523C > T:p.Arg175Trp). This is the first report of a patient with a TRPC6-related renal disorder associated with DMS.


Late-onset Hereditary ATTR Amyloidosis with a Novel p.P63S (P43S) Transthyretin Variant.
Internal medicine (Tokyo, Japan),60(4):557-561 2021(Feb. 15)
Author:Yuya Aono; Yasuhiro Hamatani; Nagaaki Katoh; Mayuko Nakagawa; Katsuya Nakamura; Masahide Yazaki; Fuyuki Kametani; Moritake Iguchi; Ikuko Murakami; Hisashi Ogawa; Mitsuru Abe; Masaharu Akao; Yoshiki Sekijima
Abstract:The patient was an 82-year-old Japanese man with no family history suggestive of amyloidosis. He developed bilateral leg edema and shortness of breath and was referred to our hospital. An electrocardiogram showed atrial fibrillation with right bundle branch block. Echocardiography showed concentric LV hypertrophy. An endomyocardial biopsy showed severe ATTR amyloid deposits. A genetic analysis of the transthyretin (TTR) gene revealed a heterozygous c.187C>T missense variant resulting in p.P63S (P43S). In silico analyses predicted that this variant only modestly altered the structure and function of the TTR protein. The p.P63S variant might be associated with an elderly-onset cardiac-dominant ATTRv phenotype.


A late-onset and relatively rapidly progressive case of pure spinal form cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene
Internal Medicine,59(20):2587-2591 2020(Oct. 15)
Author:Ken Takasone; Teruya Morizumi; Katsuya Nakamura; Yusuke Mochizuki; Tsuneaki Yoshinaga; Shingo Koyama; Yoshiki Sekijima
Abstract:© 2020 Japanese Society of Internal Medicine. All rights reserved. A 61-year-old Japanese man with the pure spinal form of cerebrotendinous xanthomatosis developed dysesthesia of the lower limbs and gait disturbance at 57 years of age. At 61 years old, he was unable to walk without support. A neurological examination showed spasticity and sensory disturbance in the lower limbs. Spinal MRI showed long hyperintense lesions involving the lateral and posterior funiculus in the cervical and thoracic cord on T2-weighted images. His serum cholestanol level was markedly elevated. A CYP27A1 gene analysis identified two missense variants, p.R474W, and a novel p.R262C variant. Combination therapy with chenodeoxycholic acid and 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase decreased his serum cholestanol level.


Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen
Journal of the Neurological Sciences,415:116901-116901 2020(Aug. 15)
Author:Teruya Morizumi; Akihiro Ueno; Ken Takasone; Kazuki Ozawa; Tsuneaki Yoshinaga; Katsuya Nakamura; Yoshiki Sekijima


Intrafamilial phenotypic variation in spinocerebellar ataxia type 23
Cerebellum and Ataxias,7(1):7-7 2020(Jun. 23)
Author:Shunichi Satoh; Yasufumi Kondo; Shinji Ohara; Shinji Ohara; Tomomi Yamaguchi; Katsuya Nakamura; Kunihiro Yoshida
Abstract:© 2020 The Author(s). Background: Spinocerebellar ataxia type 23 (SCA23) is an autosomal dominant cerebellar ataxia caused by pathogenic variants in the prodynorphin gene (PDYN). The frequency of PDYN variants is reportedly very low (~ 0.1%) in several ataxia cohorts screened to date. Case presentations: We found five cases of SCA23 in two families (mean age at onset: 37.8 ± 5.5 years; mean age at examination: 64.2 ± 12.3 years) with a novel PDYN variant (c.644G > A:p.R215H). We identified marked heterogeneity in the clinical features in Family 1: the proband showed clinical and neuroimaging features suggestive of multiple system atrophy with predominant parkinsonism (MSA-P). Conversely, the proband's mother with the PDYN p.R215H variant had no subjective symptoms; she had not come to medical attention before our survey, although she showed apparent cerebellar atrophy on brain magnetic resonance imaging (MRI). The other two patients in Family 1 and a patient in Family 2 showed slowly progressive cerebellar ataxia. Conclusions: We here report two Japanese families with SCA23, one of which showed considerable phenotypic variation in affected members. Our findings support that SCA23 can phenotypically overlap with MSA.


遺伝性疾患の発症前診断の現状
信州医学雑誌,68(3):125-130 2020(Jun.)
Author:中村 勝哉
Abstract:予防法、治療法が確立していない遺伝性疾患に対する発症前診断によって被験者が受ける心理的影響は計り知れない。検査の対象となる疾患の医学的要件、来談者の理解度や支援体制の状況を考慮し、慎重に対応する必要がある。1)遺伝カウンセリング、2)発症前診断、3)難治性疾患に対する発症前診断による心理的影響、4)原因療法が存在する疾患に対する発症前診断の実際、5)発症前診断の実施手順、について概説した。


Antibody Therapy Targeting RAN Proteins Rescues C9 ALS/FTD Phenotypes in C9orf72 Mouse Model
Neuron,105(4):645-662.e11 2020(Feb. 19)
Author:Lien Nguyen; Fabio Montrasio; Amrutha Pattamatta; Solaleh Khoramian Tusi; Olgert Bardhi; Kevin D. Meyer; Lindsey Hayes; Katsuya Nakamura; Monica Banez-Coronel; Alyssa Coyne; Shu Guo; Lauren A. Laboissonniere; Yuanzheng Gu; Saravanakumar Narayanan; Benjamin Smith; Roger M. Nitsch; Mark W. Kankel; Mia Rushe; Jeffrey Rothstein; Tao Zu; Jan Grimm; Laura P.W. Ranum
Abstract:© 2019 Elsevier Inc. The intronic C9orf72 G4C2 expansion, the most common genetic cause of ALS and FTD, produces sense- and antisense-expansion RNAs and six dipeptide repeat-associated, non-ATG (RAN) proteins, but their roles in disease are unclear. We generated high-affinity human antibodies targeting GA or GP RAN proteins. These antibodies cross the blood-brain barrier and co-localize with intracellular RAN aggregates in C9-ALS/FTD BAC mice. In cells, α-GA1 interacts with TRIM21, and α-GA1 treatment reduced GA levels, increased GA turnover, and decreased RAN toxicity and co-aggregation of proteasome and autophagy proteins to GA aggregates. In C9-BAC mice, α-GA1 reduced GA as well as GP and GR proteins, improved behavioral deficits, decreased neuroinflammation and neurodegeneration, and increased survival. Glycosylation of the Fc region of α-GA1 is important for cell entry and efficacy. These data demonstrate that RAN proteins drive C9-ALS/FTD in C9-BAC transgenic mice and establish a novel therapeutic approach for C9orf72 ALS/FTD and other RAN-protein diseases.


Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy
European Journal of Neurology,27(2):369-375 2020(Feb. 01)
Author:Y. Kondo; A. Matsushima; S. Nagasaki; K. Nakamura; Y. Sekijima; K. Yoshida
Abstract:© 2019 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology Background and purpose: The purpose was to identify statistically factors that correlate with the presence of a colony-stimulating factor 1 receptor (CSF1R) mutation and to reevaluate the accuracy of the current diagnostic criteria for CSF1R-related leukoencephalopathy. Methods: CSF1R testing was conducted on 145 consecutive leukoencephalopathy cases who were clinically suspected of having adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. From these, 135 cases whose detailed clinical information was available were enrolled. Forward logistic stepwise regression was performed to generate a probability model to predict a positive CSF1R mutation result. The current diagnostic criteria were also applied to our cohort and their sensitivity and specificity were calculated. Results: Twenty-eight CSF1R-mutation-positive cases and 107 CSF1R-mutation-negative cases were identified. Our probability model suggested that factors raising the probability of a CSF1R-mutation-positive result were younger onset, parkinsonism, thinning of the corpus callosum and diffusion-restricted lesions. It also showed that involuntary movements and brainstem or cerebellar atrophy were negative predictors of a CSF1R-mutation-positive result. In our cohort, the sensitivity and specificity for ‘probable’ or ‘possible’ CSF1R-related leukoencephalopathy were 81% and 14%, respectively. Conclusions: Clinical and brain imaging features predictive of the presence of a CSF1R mutation are proposed. Consideration of these factors will help prioritize patients for CSF1R testing.


A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia
Journal of the Neurological Sciences,399:214-216 2019(Apr.)
Author:Yuka Ogawa; Katsuya Nakamura; Naoki Ezawa; Tomomi Yamaguchi; Tsuneaki Yoshinaga; Daigo Miyazaki; Tomoki Kosho; Yoshiki Sekijima


Idiopathic cerebellar ataxia (IDCA): Diagnostic criteria and clinical analyses of 63 Japanese patients
Journal of the Neurological Sciences,384:30-35 2018(Jan. 15)
Author:Kunihiro Yoshida; Satoshi Kuwabara; Katsuya Nakamura; Ryuta Abe; Akira Matsushima; Minako Beppu; Yoshitaka Yamanaka; Yuji Takahashi; Hidenao Sasaki; Hidehiro Mizusawa
Abstract:© 2017 The Authors Cortical cerebellar atrophy (CCA) and multiple system atrophy with predominant cerebellar ataxia (MSA-C) are the two major forms of adult-onset sporadic ataxia. Contrary to MSA-C, there are neither diagnostic criteria nor neuroimaging features pathognomonic for CCA. Therefore, it is assumed that the category of CCA in the Japanese national registry include heterogeneous cerebellar ataxic disorders. To refine this category in more detail, we here used a clinical-based term, “idiopathic cerebellar ataxia (IDCA)”, and proposed its diagnostic criteria. We collected 346 consecutive patients with the core features of the criteria (sporadic, insidious-onset and slowly progressive cerebellar ataxia in adults, and cerebellar atrophy on brain imaging). Of these, 212 (61.3%) were diagnosed with probable or possible MSA, and 30, who did not meet the diagnostic criteria for MSA at examination, were also excluded because of MRI findings suggestive of MSA. Twenty two were proven to have hereditary spinocerebellar ataxias by genetic testing, and 19 had secondary ataxias. Finally, the remaining 63 (18.2%) were diagnosed with IDCA. The mean (standard deviation) age at onset was 57.2 (10.8) years. Of these, 25 (39.7%) showed pure cerebellar ataxia, and the remaining 38 (60.3%) had some of extracerebellar features including abnormal tendon reflexes (46.0%), positive Babinski sign (9.5%), sensory disturbance (12.7%), cognitive impairment (9.5%), and involuntary movements (7.9%). Our results show that IDCA refined by the diagnostic criteria still includes clinically and genetically heterogeneous ataxic disorders. More extensive genetic analyses will be of significance for further clarification of this group.


A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8
Human Genome Variation,4:17052 2017(Oct. 26)
Author:Tsuneaki Yoshinaga; Katsuya Nakamura; Masumi Ishikawa; Tomomi Yamaguchi; Kyoko Takano; Keiko Wakui; Tomoki Kosho; Kunihiro Yoshida; Yoshimitsu Fukushima; Yoshiki Sekijima
Abstract:A Japanese family with autosomal recessive cerebellar ataxia type 8 (SCAR8, MIM 610743) is described. We identified a novel SYNE1 frameshift deletion (c.6843del, p.Q2282Sfs∗3). This family shared similar clinical manifestations characterized by adult-onset, relatively pure cerebellar ataxia with mild eye movement abnormality. Intelligence and bulbar and respiratory functions were unaffected. This study suggests the clinical utility of using panel-based exome sequencing for genetic diagnosis in hereditary ataxias in a cost-efficient manner.


Inter-generational instability of inserted repeats during transmission in spinocerebellar ataxia type 31
Journal of Human Genetics,62(10):923-925 2017(Oct. 01)
Author:Kunihiro Yoshida; Akira Matsushima; Katsuya Nakamura
Abstract:© 2017 The Japan Society of Human Genetics. The causative mutation for spinocerebellar ataxia type 31 (SCA31) is an intronic insertion containing pathogenic pentanucleotide repeats, (TGGAA) n. We examined to what degree the inserted repeats were unstable during transmission. In 14 parent-child pairs, the average change of onset age was â '6.4±7.3 years (mean±s.d.) in the child generation when compared with the parent generation. Of the 11 pairs analyzed, six showed expansion of inserted repeat length during transmission, and five showed contraction. On average, the inserted repeats expanded by 12.2±32.7 bp during transmission, but their mean length (with a 95% confidence interval) was not significantly different between parent and child generations. We consider that the length of the inserted repeats in SCA31 is changeable during transmission, but inter-generational instability is not marked, as far as the current sizing method can determine.


Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients
Journal of Human Genetics,62(7):665-670 2017(Jul. 01)
Author:Kiyoshiro Nagamatsu; Yoshiki Sekijima; Katsuya Nakamura; Kimitoshi Nakamura; Kiyoko Hattori; Masao Ota; Yusaku Shimizu; Fumio Endo; Shu Ichi Ikeda
Abstract:© 2017 The Japan Society of Human Genetics All rights reserved. Fabry disease is an important underlying disease in young cryptogenic stroke patients. However, little is known regarding the frequency of Fabry disease in the general stroke population, especially in elderly patients. A total of 588 stroke patients (61.7% men; average age 74.1±12.5 years) were enrolled in this prospective study. Blood samples were obtained to produce blood spots to determine α-galactosidase A (α-GalA) activity and for GLA gene analysis. One 65-year-old female patient had a known GLA gene mutation, c.2T>C (p.M1T), causing Fabry disease. Five male patients and two female patients had GLA c.196G>C (p.E66Q) variant, which is not associated with the full clinical manifestations of Fabry disease. The allele frequency of GLA c.196G>C was significantly higher in male patients with small-vessel occlusion (odds ratio 3.95, P=0.048) and non-cardioembolism (odds ratio 4.08, P=0.012) than that in the general Japanese population. Fabry disease is rare in the general Japanese stroke population. However, screening identified one elderly female patient with Fabry disease. GLA c.196G>C variant is a genetic risk factor for cerebral small-vessel occlusion and non-cardioembolism in Japanese males but not in females.


Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study
Cerebellum,16(2):518-524 2017(Apr.)
Author:Katsuya Nakamura; Kunihiro Yoshida; Akira Matsushima; Yusaku Shimizu; Shunichi Sato; Hiroyuki Yahikozawa; Shinji Ohara; Masanobu Yazawa; Masao Ushiyama; Mitsuto Sato; Hiroshi Morita; Atsushi Inoue; Shu ichi Ikeda
Abstract:© 2016, Springer Science+Business Media New York. Spinocerebellar ataxia type 31 (SCA31) is known as a late-onset, relatively pure cerebellar form of ataxia, but a longitudinal prospective study on the natural history of SCA31 has not been done yet. In this prospective cohort study, we enrolled 44 patients (mean ± standard deviation 73.6 ± 8.5 years) with genetically confirmed SCA31 from 10 ataxia referral centers in the Nagano area, Japan. Patients were evaluated every year for 4 years using the Scale for the Assessment and Rating of Ataxia (SARA) and the Barthel Index (BI). Of the 176 follow-up visits (91.5%), 161 were completed in this study. Five patients (11.4%) died during the follow-up period, and two patients (4.5%) were lost to follow-up. The annual progression of the SARA score was 0.8 ± 0.1 points/year and that of the BI was −2.3 ± 0.4 points/year (mean ± standard error). Shorter disease duration at baseline was associated with faster progression of the SARA score. Our study indicated the averaged clinical course of SCA31 as follows: the patients develop ataxic symptoms at 58.5 ± 10.3 years, become wheelchair bound at 79.4 ± 1.7 years, and died at 88.5 ± 0.7 years. Our prospective dataset provides important information for clinical trials of forthcoming disease-modifying therapies for cerebellar ataxia. It also represents a useful resource for SCA31 patients and their family members in genetic counseling sessions.


Hypertrophic Pachymeningitis as an Early Manifestation of Relapsing Polychondritis: Case Report and Review of the Literature
Case Reports in Neurology,8(3):211-217 2016(Sep. 12)
Author:Satoru Ushiyama; Tomomi Kinoshita; Yasuhiro Shimojima; Nobuhiko Ohashi; Dai Kishida; Daigo Miyazaki; Katsuya Nakamura; Yoshiki Sekijima; Shu Ichi Ikeda
Abstract:© 2016 The Author(s) Published by S. Karger AG, Basel. Neurological involvement in relapsing polychondritis (RP) is relatively rare. We describe the case of an 80-year-old man who presented with hypertrophic pachymeningitis (HP) together with arthritis as the first manifestation of RP. Auricular chondritis, which subsequently determined the diagnosis of RP, occurred a few weeks after the detection of HP. The neurological symptoms, as well as arthritis, were promptly improved by treatment with corticosteroids. It is generally difficult to diagnose RP in the absence of typical cartilaginous involvement; however, the present case suggests that HP may occur as an early clinical manifestation of RP.


Clinical assessment of standing and gait in ataxic patients using a triaxial accelerometer
Cerebellum and Ataxias,2(1):9 2015(Aug. 06)
Author:Akira Matsushima; Kunihiro Yoshida; Hirokazu Genno; Asuka Murata; Setsuko Matsuzawa; Katsuya Nakamura; Akinori Nakamura; Shu ichi Ikeda
Abstract:© 2015 Matsushima et al. Background: The aim of this study was to investigate the usefulness of a triaxial accelerometer for the clinical assessment of standing and gait impairment in ataxic patients quantitatively. Fifty-one patients with spinocerebellar ataxia (SCA) or multiple system atrophy with predominant cerebellar ataxia (MSA-C) and 56 healthy control subjects were enrolled. The subjects, with a triaxial accelerometer on their back, were indicated to stand for 30 s in four different conditions (eyes opened or closed, and feet apart or together) and then to walk 10 m for a total of 12 times on a flat floor at their usual walking speed. In standing analysis, the degree of body sway was assessed. In gait analysis, gait velocity, cadence, step length, step regularity (auto-correlation coefficient: AC), step repeatability (cross-correlation coefficient) and the degree of body sway (The ratio of root mean square in each direction to the root mean square vector magnitude: RMSR) were evaluated. Results: The degree of body sway in each standing condition and all parameters in gait showed a significant difference between the patients and control subjects. The AC and RMSR values, as well as the Scale for the Assessment and Rating of Ataxia score, showed a strong correlation with disease duration. Conclusions: Various parameters obtained by a triaxial accelerometer can be sensitive and objective markers for the assessment and follow-up of standing and gait impairment in ataxic patients.


【脊髄小脳変性症の最新医療とケア】[第2部]脊髄小脳失調症31型の自然史
難病と在宅ケア,21(2):7-10 2015(May)
Author:中村 勝哉; 吉田 邦広


A case report of WEBINO syndrome with convergence impairment
J. Neurol. Neurophysiol.,6:1 2015
Author:Yoshinaga T; Nakamura K; Kaneko K; Nakamura A


Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation
Journal of Neurology, Neurosurgery and Psychiatry,85(9):1024-1028 2014(Sep.)
Author:Haruo Shimazaki; Junko Honda; Tametou Naoi; Michito Namekawa; Imaharu Nakano; Masahide Yazaki; Katsuya Nakamura; Kunihiro Yoshida; Shu Ichi Ikeda; Hiroyuki Ishiura; Yoko Fukuda; Yuji Takahashi; Jun Goto; Shoji Tsuji; Yoshihisa Takiyama
Abstract:Background: Autosomal-recessive hereditary spastic paraplegias (AR-HSP) consist of a genetically diverse group of neurodegenerative diseases characterised by pyramidal tracts dysfunction. The causative genes for many types of AR-HSP remain elusive. We tried to identify the gene mutation for AR-HSP with cerebellar ataxia and neuropathy. Methods: This study included two patients in a Japanese family with their parents who are first cousins. Neurological examination and gene analysis were conducted in the two patients and two normal family members. We undertook genome-wide linkage analysis employing single nucleotide polymorphism arrays using the two patients' DNAs and exome sequencing using one patient's sample. Results: We detected a homozygous missense mutation (c.4189T>G, p.F1397V) in the lysosomal trafficking regulator (LYST) gene, which is described as the causative gene for Chédiak-Higashi syndrome (CHS). CHS is a rare autosomal-recessive syndrome characterised by hypopigmentation, severe immune deficiency, a bleeding tendency and progressive neurological dysfunction. This mutation was co-segregated with the disease in the family and was located at well-conserved amino acid. This LYST mutation was not found in 200 Japanese control DNAs. Microscopic observation of peripheral blood in the two patients disclosed large peroxidase-positive granules in both patients' granulocytes, although they had no symptoms of immune deficiency or bleeding tendency. Conclusions: We diagnosed these patients as having adult CHS presenting spastic paraplegia with cerebellar ataxia and neuropathy. The clinical spectrum of CHS is broader than previously recognised. Adult CHS must be considered in the differential diagnosis of AR-HSP.


Response to satomura et al.
European Journal of Neurology,21(8):e63 2014(Aug.)
Author:K. Nakamura; Y. Sekijima


p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males
European Journal of Neurology,21(1):49-56 2014(Jan.)
Author:K. Nakamura; Y. Sekijima; K. Nakamura; K. Hattori; K. Nagamatsu; Y. Shimizu; M. Yazaki; A. Sakurai; F. Endo; Y. Fukushima; S. I. Ikeda
Abstract:Background and purpose: GLA is the causative gene of Fabry disease, an X-linked lysosomal storage disorder resulting from α-galactosidase A (α-GAL) deficiency. Stroke is an important manifestation of Fabry disease, and recent epidemiological studies have indicated that up to 4.9% of young male cryptogenic stroke patients have GLA mutations. To determine the importance of GLA mutations in the general stroke population, the frequency of GLA mutations in Japanese male ischaemic stroke (IS) patients with various risk factors and ages was measured. Methods: A total of 475 male IS patients (mean age 69.7 ± 12.5 years), were enrolled in this study. A blood sample was obtained to produce blood spots for measurement of α-GAL activity. Blood samples with decreased enzymatic activity were reassayed and the entire GLA gene was analyzed by direct DNA sequencing if α-Gal A activity was consistently low. Results: α-Gal A activity was decreased in 10 men, five of whom (1.1%) had the GLA gene mutation, p.E66Q. All IS patients with p.E66Q mutation had substantial residual α-Gal A activity, in contrast to patients with classic-type Fabry disease. Clinically, all patients with p.E66Q mutation were > 50 years old and had multiple small-vessel occlusions (lacunar infarctions). Statistical analysis using Fisher's exact test showed the allele frequency of GLA p.E66Q in patients with small-vessel occlusion to be significantly higher than that in the general Japanese population [odds ratio (OR) = 3.34, P = 0.025). Conclusions: GLA p.E66Q mutation is a genetic risk factor for cerebral small-vessel occlusion in elderly Japanese males. © 2013 EFNS.


Triple a syndrome in Japan
Muscle and Nerve,48(3):381-386 2013(Sep.)
Author:Masanori Ikeda; Makito Hirano; Keiich Shinoda; Noriyuki Katsumata; Daisuke Furutama; Katsuya Nakamura; Shu Ichi Ikeda; Toshifumi Tanaka; Toshiaki Hanafusa; Hiroyuki Kitajima; Hitoshi Kohno; Mizuho Nakagawa; Yusaku Nakamura; Satoshi Ueno
Abstract:Introduction: Triple A syndrome is an autosomal recessive disease, characterized by esophageal achalasia, alacrima, and adrenal insufficiency, as well as involvement of the central, peripheral, and autonomic nervous systems. This disease mimics amyotrophic lateral sclerosis in some patients. The causative gene encodes ALADIN, a nuclear pore complex (NPC) component. Only 5 patients have been reported in Japan. Methods: We conducted the first nationwide survey of triple A syndrome. Identified mutants were expressed as GFP-fusion proteins in cultured cells. Results: Two new patients were identified, and 1 had a novel mutation (p.Ser182fsX19). All mutant proteins tested were mislocalized from NPC to cytoplasm. Conclusions: The most consistent neurological manifestation of triple A syndrome in Japanese patients was progressive bulbospinal muscular atrophy with both upper and lower motor neuron involvement, which mimicked motor neuron disease, similar to that seen in patients in Western countries. The identification of the new patients suggests that more cases are undiagnosed in Japan. © 2013 Wiley Periodicals, Inc.


Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene
Internal Medicine,52(1):119-124 2013
Author:Yoshiki Sekijima; Katsuya Nakamura; Dai Kishida; Aya Narita; Kaori Adachi; Kosaku Ohno; Eiji Nanba; Shu ichi Ikeda
Abstract:The case of a Japanese sialidosis type I patient with a novel NEU1 gene mutation is described. The patient developed an unsteady gait at age 14 and was referred to our hospital at age 16. On admission, subnormal intelligence, dysarthria, myoclonus, intentional tremors, limb and gait ataxia, hyperreflexia and macular cherry-red spots were observed. An enzymological analysis revealed a primary deficiency of neuraminidase. An NEU1 gene analysis identified two heterozygous missense mutations: p.P80L and p.D135N. The p.D135N mutation is a novel mutation that is considered to be associated with the mild clinical phenotype of sialidosis. Serial brain MRI showed diffuse brain atrophy progressing rapidly over the 41-month observation period.


A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea
Journal of the Neurological Sciences,313(1-2):189-192 2012(Feb. 15)
Author:Katsuya Nakamura; Yoshiki Sekijima; Kiyoshiro Nagamatsu; Kunihiro Yoshida; Shu Ichi Ikeda
Abstract:A Japanese family with a novel nonsense mutation in the TITF-1 gene (p.Y98X) is described. The proband showed severe generalized chorea, delayed motor development, subnormal intelligence, congenital hypothyroidism, bronchial asthma, and a history of pulmonary infection, all of which are characteristic features of Brain-Thyroid-Lung syndrome. On the other hand, her brother and mother showed a mild benign hereditary chorea (BHC) phenotype with congenital hypothyroidism. Intrafamilial phenotypic variation is common in BHC/Brain-Thyroid-Lung syndrome and suggests the existence of other genetic or environmental factors regulating TITF-1 function. Although choreic movement in BHC/Brain-Thyroid-Lung syndrome is recognized as non-progressive, the proband showed re-exacerbation of choreic movement at puberty. The dopamine agonist, ropinirole hydrochloride, reduced her choreic movements, suggesting that levodopa and/or dopamine agonists may compensate for underdeveloped dopaminergic pathways in this disorder. © 2011 Elsevier B.V. All rights reserved.


Adult or late-onset triple A syndrome: Case report and literature review
Journal of the Neurological Sciences,297(1-2):85-88 2010(Oct. 15)
Author:Katsuya Nakamura; Kunihiro Yoshida; Tsuneaki Yoshinaga; Minori Kodaira; Yasuhiro Shimojima; Yo Ichi Takei; Hiroshi Morita; Katsuhiko Kayanuma; Shu Ichi Ikeda
Abstract:Triple A syndrome is caused by mutations in the gene encoding ALADIN, leading to achalasia, alacrima and addisonism. Neurologic manifestations of the disease include motor neuron disease-like presentations, motor-sensory or autonomic neuropathy, optic atrophy, cerebellar ataxia, Parkinsonism, and mild dementia. We report a 60-year-old Japanese man with triple A syndrome. He was born to non-consanguineous parents. He underwent a surgical operation for achalasia at age 40, and thereafter, he developed a slowly progressive gait disturbance. Neurological examinations at age 60 revealed limb muscle wasting and weakness with pyramidal tract signs, distal-dominant sensory disturbance, optic atrophy, and autonomic dysfunction. Alacrima was detected using Schirmer test. All of these features were consistent with typical triple A syndrome. He lacked adrenal insufficiency that is frequently observed in patients with the classic phenotype of triple A syndrome. His sural nerve biopsy showed a moderate loss of myelinated fibers and hypomyelination. He was homozygous for a missense mutation, p.R155H, in the disease-causing gene, AAAS. Seven patients with genetically-confirmed, adult or late-onset triple A syndrome, including ours, have been reported to date. All the patients showed upper and lower motor neuron signs (100%), while sensory disturbance (29%) and autonomic dysfunction (57%) were less frequent. Careful assessment for alacrima followed by molecular genetic analysis of AAAS should be considered in patients who show a combined phenotype of motor neuron disease and sensory/autonomic disturbance, even in elderly patients. © 2010 Elsevier B.V. All rights reserved.


Cerebral hemorrhage in Fabry's disease
Journal of Human Genetics,55(4):259-261 2010(Apr.)
Author:Katsuya Nakamura; Yoshiki Sekijima; Kimitoshi Nakamura; Kiyoko Hattori; Kiyoshiro Nagamatsu; Yusaku Shimizu; Takuji Yasude; Masao Ushiyama; Fumio Endo; Yoshimitsu Fukushima; Shu Ichi Ikeda
Abstract:Fabry's disease is an X-linked lysosomal storage disorder resulting from α-galactosidase A deficiency. Although ischemic stroke is recognized as an important manifestation of Fabry's disease, hemorrhagic stroke is considered to be rare. Here, we report our recent clinical experience with three hemizygous male patients with Fabry's disease who developed cerebral hemorrhage. One patient had classic type Fabry's disease with p.Ala37Val mutation and others had cerebrovascular variant with p.Glu66Gln mutation. Degeneration of the cerebral small arteries secondary to deposition of glycosphingolipids and aging, in addition to hypertension and antiplatelet/anticoagulant agents, are considered to be contributing factors for hemorrhage. Fabry's disease is frequently associated with not only ischemic but also hemorrhagic stroke, especially in elderly patients. © 2010 The Japan Society of Human Genetics All rights reserved.


A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)
Journal of Human Genetics,54(12):746-748 2009(Dec.)
Author:Katsuya Nakamura; Kunihiro Yoshida; Hideo Makishita; Eiko Kitamura; Shiori Hashimoto; Shu Ichi Ikeda
Abstract:We report a 67-year-old Japanese woman with ataxia with oculomotor apraxia type 2 (AOA2). She was born to consanguineous parents and showed a teenage onset, a slowly progressive cerebellar ataxia and sensory-motor neuropathy and an elevated level of serum α-fetoprotein (AFP). All of these clinical features were consistent with typical AOA2. She lacked oculomotor apraxia, as frequently observed in previously reported AOA2 patients. She was homozygous for a novel nonsense mutation, Glu385Ter (E385X), in the senataxin gene (SETX). To our knowledge, this is the fifth Japanese family with genetically confirmed AOA2. The mutations in SETX in Japanese AOA2 families are heterogeneous, except for M274I, which has been found in two unrelated families. More extensive screening by serum AFP followed by molecular genetic analysis of SETX in patients with Friedreichs ataxia-like phenotype may show that AOA2 is more common in Japan than previously thought. © 2009 The Japan Society of Human Genetics All rights reserved.


Spinocerebellar ataxia type 6 (SCA6): Clinical pilot trial with gabapentin
Journal of the Neurological Sciences,278(1-2):107-111 2009(Mar. 15)
Author:Katsuya Nakamura; Kunihiro Yoshida; Daigo Miyazaki; Hiroshi Morita; Shu ichi Ikeda
Abstract:The clinical effect of the GABAergic drug gabapentin was evaluated in 11 patients with spinocerebellar ataxia type 6 (SCA6). The total period of gabapentin treatment was 4 weeks, and outcome measures were determined with the International Cooperative Ataxia Rating Scales (ICARS) and postural sway studies. At week 4, 5 patients showed a decrease of the ICARS values by more than 10% compared with the pre-treatment baseline. Eight patients showed a more than 10% decrease of the sway area (SA) and/or sway path length (SPL) values in postural sway studies. The ICARS values and SA/SPL values were not necessarily consistent in each patient, but 3 patients showed a more than 10% decrease in the ICRAS, SA, and SPL values at week 4 when compared to the pre-treatment baseline. As a whole, the efficacy of gabapentin was not statistically confirmed in the 4-week trial because of the variation in efficacy in each patient, but the data are indicative that some SCA6 patients could benefit from gabapentin treatment. © 2008 Elsevier B.V. All rights reserved.


Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan
Cerebellum,8(1):46-51 2009(Mar.)
Author:Kunihiro Yoshida; Yusaku Shimizu; Hiroshi Morita; Tomomi Okano; Haruya Sakai; Takako Ohata; Naomichi Matsumoto; Katsuya Nakamura; Ko Ichi Tazawa; Shinji Ohara; Kenichi Tabata; Atsushi Inoue; Shunichi Sato; Yasuhiro Shimojima; Takeshi Hattori; Masao Ushiyama; Shu Ichi Ikeda
Abstract:16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is a recently defined subtype of ADCA identified by a disease-specific C/T substitution in the 5′ untranslated region of the puratrophin-1 gene. In Nagano, the central mountainous district of the main island of Japan, 16q-ADCA and spinocerebellar ataxia type 6 (SCA6) are the most and second most prevalent subtypes of ADCA, respectively. Both subtypes are classified into Harding's ADCA III, but little attention has been given to the differences in the severity and progression rate of cerebellar ataxia between 16q-ADCA and SCA6. We investigated the clinical severity and progression rate of cerebellar ataxia of 16q-ADCA patients using international cooperative ataxia rating scale and scale for the assessment and rating of ataxia and compared them with those of SCA6 patients. The age at onset was much higher in 16q-ADCA patients (60.1∈±∈9.8 years, n∈=∈66) than in SCA6 patients (41.1∈±∈8.7 years, n∈=∈35). Clinical features of 16q-ADCA were basically consistent with pure cerebellar ataxia, as well as in SCA6, but gaze-evoked nystagmus was observed less frequently in 16q-ADCA patients than in SCA6 patients. When compared at almost the same disease duration after onset, the severity of cerebellar ataxia was a little higher, and the progression rate seemed more rapid in 16q-ADCA patients than in SCA6 patients, but the differences were not significant. © 2008 Springer Science+Business Media, LLC.


講演・口頭発表等
Clinical features of KIF1A-Related Disorders: A Japanese patient with a novel missense variant and literature review
The ASHG 2019 Annual Meeting 2019(Oct. 17)
Presenter:Katsuya Nakamura, Emiko Kise, Tomomi Yamaguchi, Tsuneaki Yoshinaga, Minori Kodaira, Yoshiki Sekijima, Tomoki Kosho


Targeting ran proteins improves phenotypes in C9orf72 BAC ALS/FTD mice
2019(Jul. 27)
Presenter:L Ranum, L Nguyen, F Montrasio, O Bardhi, S Guo, SK Tusi, K Nakamura, MB Coronel, N Sonenberg, J Grimm, T Zu


Identification of novel variants in spectrin, beta, non-erythrocytic 2 (SPTBN2) in a large cohort of ataxia patients
7th Ataxia Investigators Meeting AIM 2018 2018(Apr. 02)
Presenter:Katsuya Nakamura, Tyisha J. Hathorn, Karen Armbrust, Damaris N. Lorenzo, John D.Cleary, Tammy Reid, David A. Ostrov, Eleonora Di Gregorio, Olga Calabrese, Alfredo Brusco, Christopher M. Gomez, Rebekah Jobling, Grace Yoon, S.H. Subramony, Tetsuo Ashizawa1, and Laura P.W. Ranum


Next Generation Sequencing as a Clinical Diagnostic Tool for Hereditary Spinocerebellar Degeneration
The 13th International Congress of Human Genetics 2016(Apr.)
Presenter:NAKAMURA Katsuya, YOSHIDA Kunihiro, KOSHO Tomoki, TAKANO Kyoko, WAKUI Keiko, SATOH Shunichi, SEKIJIMA Yoshiki, MAKISHITA Hideo, OHARA Shinji, ISHIKAWA Masumi, IKEDA Shu‐ichi, FUKUSHIMA Yoshimitsu, FUKUSHIMA Yoshimitsu


脊髄小脳失調症31型の自然史
第56回日本神経学会 2015(May)
Presenter:中村勝哉他


α-galactosidase A遺伝子p.E66Q変異はcerebral small-vessel occlusionの重要な遺伝的危険因子である
第39回日本脳卒中学会 2014(Mar.)
Presenter:中村勝哉他


p.E66Q Mutation in the GLA Gene Is an Important Genetic Risk Factor for Stroke in Elderly Japanese Men
NEUROLOGY 76 9 A9-A10 2011(Mar.)
Presenter:Nakamura Katsuya, Sekijima Yoshiki, Nakamura Kimitoshi, Hattori Kiyoko, Endo Fumio, Nagamatsu Kiyoshiro, Shimizu Yusaku, Ikeda Shu-ichi


MISC
ステロイド治療が有効で、自己免疫学的機序が疑われた過剰驚愕反応症の71歳男性
臨床神経学,62(8):667 2022(Aug.)
Author:上條 祐衣; 上島 翔太; 中藤 清志; 星野 優美; 中村 勝哉; 小平 農; 関島 良樹


遺伝性神経疾患における発症前診断 トランスサイレチン型遺伝性アミロイドーシスを中心に
日本遺伝カウンセリング学会誌,43(2):84 2022(Jun.)
Author:中村 勝哉; 石川 真澄; 黄瀬 恵美子; 小島 朋美; 古庄 知己; 関島 良樹


成人期に、高次脳機能障害・歩行障害・難聴・性腺機能障害など多彩な臨床像を呈し、次世代シークエンスが診断に有効であったWoodhouse-Sakati症候群とKrabbe病の合併例
臨床神経学,62(4):310 2022(Apr.)
Author:奥村 学; 高橋 佑介; 高曽根 健; 日根野 晃代; 湊川 真理; 中村 勝哉; 古庄 知己; 関島 良樹


様々な重症度の変異HTRA1ヘテロ接合例とホモ接合例が認められたCARASILの一家系
臨床神経学,62(1):78 2022(Jan.)
Author:近藤 恭史; 杉村 啓鷹; 松野 淳洋; 吉長 恒明; 中村 勝哉; 関島 良樹


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-
日本神経学会学術大会プログラム・抄録集,63rd 2022
Author: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


HTRA1変異ホモおよびヘテロ接合例が混在して見出されたCARASILの一家系
Dementia Japan,35(4):628 2021(Oct.)
Author:近藤 恭史; 杉村 啓鷹; 松野 淳洋; 吉長 恒明; 中村 勝哉; 関島 良樹


特発性小脳失調症に対する免疫療法の有効性と安全性を検証する多施設医師主導治験
神経免疫学,26(1):161 2021(Oct.)
Author:吉倉 延亮; 竹腰 顕; 木村 暁夫; 中村 勝哉; 松嶋 聡; 岸本 祥之; 原 一洋; 高橋 祐二; 勝野 雅央; 水澤 英洋; 下畑 享良


特発性小脳失調症に対する免疫療法の有効性と安全性を検証する多施設共同医師主導治験
臨床神経学,61(Suppl.):S304 2021(Sep.)
Author:吉倉 延亮; 竹腰 顕; 木村 暁夫; 中村 勝哉; 松嶋 聡; 吉田 邦広; 下畑 享良


特発性小脳性運動失調症における抗小脳抗体の検索と抗体陽性患者の臨床的特徴
臨床神経学,61(Suppl.):S257 2021(Sep.)
Author:竹腰 顕; 木村 暁夫; 吉倉 延亮; 中村 勝哉; 吉田 邦広; 下畑 享良


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
臨床神経学,61(Suppl.):S421 2021(Sep.)
Author:柴田 有花; 松島 理明; 加藤 ももこ; 竹内 恵; 張 香理; 中村 勝哉; 織田 克利; 吉田 邦広; 関島 良樹; 戸田 達史; 矢部 一郎


特発性小脳失調症に対する免疫療法の有効性と安全性を検証する多施設共同医師主導治験
臨床神経学,61(Suppl.):S304 2021(Sep.)
Author:吉倉 延亮; 竹腰 顕; 木村 暁夫; 中村 勝哉; 松嶋 聡; 吉田 邦広; 下畑 享良


若年性脳梗塞の兄弟を契機に臨床的に多様なHTRA1変異キャリアが見出された一家系
臨床神経学,61(Suppl.):S272 2021(Sep.)
Author:近藤 恭史; 杉村 啓鷹; 松野 淳洋; 吉長 恒明; 中村 勝哉; 関島 良樹


特発性小脳性運動失調症における抗小脳抗体の検索と抗体陽性患者の臨床的特徴
臨床神経学,61(Suppl.):S257 2021(Sep.)
Author:竹腰 顕; 木村 暁夫; 吉倉 延亮; 中村 勝哉; 吉田 邦広; 下畑 享良


新規治療方法の進展がTTR-FAPにおける遺伝カウンセリングに与えた影響
臨床神経学,61(Suppl.):S231 2021(Sep.)
Author:中村 勝哉; 石川 真澄; 黄瀬 恵美子; 小島 朋美; 佐久 彰子; 古庄 知己; 関島 良樹


特発性小脳失調症に対する免疫療法の有効性と安全性を検証する多施設医師主導治験
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:104 2021(Jul.)
Author:吉倉 延亮; 竹腰 顕; 木村 暁夫; 中村 勝哉; 松嶋 聡; 吉田 邦広; 下畑 享良


特発性小脳性運動失調症の34%に抗小脳抗体を認める
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:104 2021(Jul.)
Author:竹腰 顕; 木村 暁夫; 吉倉 延亮; 中村 勝哉; 吉田 邦広; 下畑 享良


特発性小脳失調症に対する免疫療法の有効性と安全性を検証する多施設医師主導治験
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:104 2021(Jul.)
Author:吉倉 延亮; 竹腰 顕; 木村 暁夫; 中村 勝哉; 松嶋 聡; 吉田 邦広; 下畑 享良


特発性小脳性運動失調症の34%に抗小脳抗体を認める
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:104 2021(Jul.)
Author:竹腰 顕; 木村 暁夫; 吉倉 延亮; 中村 勝哉; 吉田 邦広; 下畑 享良


地域がん診療連携拠点病院における看護師のがん遺伝子パネル検査に関する実態調査
日本遺伝カウンセリング学会誌,42(2):73 2021
Author:加藤純子; 加藤純子; 小島朋美; 小島朋美; 石川真澄; 黄瀬恵美子; 佐久彰子; 湊川真理; 湊川真理; 中村勝哉; 中村勝哉; 高野亨子; 高野亨子; 涌井敬子; 涌井敬子; 古庄知己; 古庄知己


ファブリー病女性at risk者の診断や治療選択の意思決定に影響する因子の検討
日本遺伝カウンセリング学会誌,42(2):95 2021
Author:黄瀬恵美子; 黄瀬恵美子; 中村勝哉; 中村勝哉; 石川真澄; 阪下達哉; 阪下達哉; 花房宏昭; 花房宏昭; 古庄知己; 古庄知己


肢帯型筋ジストロフィー2型(LGMD2A)の24歳女性例の長期経過
日本遺伝カウンセリング学会誌,42(2):56 2021
Author:阪下達哉; 阪下達哉; 中村勝哉; 中村勝哉; 中村勝哉; 石川真澄; 石川真澄; 平林伸一; 酒井典子; 濱中耕平; 宮武聡子; 松本直通; 古庄知己; 古庄知己


ジストロフィン異常症患者の同胞に対する遺伝医療部門の関わり
日本遺伝カウンセリング学会誌,42(2):124 2021
Author:佐久彰子; 石川真澄; 黄瀬恵美子; 小島朋美; 小島朋美; 中村勝哉; 中村勝哉; 高野亨子; 高野亨子; 古庄知己; 古庄知己


家系内臨床的多様性を呈したファブリー病家系の遺伝カウンセリング経験と治療経過
日本遺伝カウンセリング学会誌,42(2):100 2021
Author:中村勝哉; 中村勝哉; 中村勝哉; 黄瀬恵美子; 黄瀬恵美子; 石川真澄; 阪下達哉; 花房宏昭; 関島良樹; 古庄知己; 古庄知己


Down症候群のある子どもの就学先決定に関する研究
日本遺伝カウンセリング学会誌,42(2):127 2021
Author:井野元茜; 小島朋美; 小島朋美; 石川真澄; 黄瀬恵美子; 佐久彰子; 湊川真理; 湊川真理; 中村勝哉; 中村勝哉; 涌井敬子; 涌井敬子; 高野亨子; 高野亨子; 古庄知己; 古庄知己


ターナー症候群の遺伝医療に関する研究-信州大学医学部附属病院遺伝子医療研究センターにおける実態調査から-
日本遺伝カウンセリング学会誌,42(2):53 2021
Author:中橋紗代子; 小島朋美; 小島朋美; 石川真澄; 黄瀬恵美子; 佐久彰子; 湊川真理; 湊川真理; 中村勝哉; 中村勝哉; 高野亨子; 高野亨子; 涌井敬子; 涌井敬子; 古庄知己; 古庄知己


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
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
Author: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


遺伝カウンセリング経過中に一時的に「受動的攻撃性」を示したクライエント
日本人類遺伝学会大会プログラム・抄録集,66th (CD-ROM) 2021
Author:佐久彰子; 中村勝哉; 中村勝哉; 石川真澄; 黄瀬恵美子; 小島朋美; 小島朋美; 花房宏昭; 花房宏昭; 花房宏昭; 玉井真理子; 古庄知己; 古庄知己; 古庄知己


筋強直性ジストロフィーにおける父由来の表現促進現象についての検討
日本人類遺伝学会大会プログラム・抄録集,66th (CD-ROM) 2021
Author:石川真澄; 中村勝哉; 中村勝哉; 黄瀬恵美子; 黄瀬恵美子; 小島朋美; 小島朋美; 佐久彰子; 高野亨子; 高野亨子; 関島良樹; 古庄知己; 古庄知己; 古庄知己


新規ミスセンス変異を認めた本邦初のB4GALNT1関連神経変性症の1例
日本人類遺伝学会大会プログラム・抄録集,66th (CD-ROM) 2021
Author:中村勝哉; 中村勝哉; 土田奈緒美; 井ノ口仁一; 小島朋美; 池田淳司; 小平農; 稲森啓一郎; 永福正和; 新田昂大; 真鍋法義; 大野詩歩; 山口芳樹; 下畑享良; 松本直通; 古庄知己; 古庄知己; 古庄知己; 関島良樹


新規治療方法の進展が遺伝カウンセリングに与えた影響 TTR-FAPにおける後方視的解析
臨床神経学,60(Suppl.):S370 2020(Nov.)
Author:中村 勝哉; 石川 真澄; 黄瀬 恵美子; 小島 朋美; 吉長 恒明; 古庄 知己; 関島 良樹


特発性小脳失調症における自己免疫病態の解明 抗小脳抗体の検索
神経免疫学,25(1):132 2020(Oct.)
Author:竹腰 顕; 木村 暁夫; 吉倉 延亮; 中村 勝哉; 吉田 邦広; 下畑 享良


特発性小脳失調症における自己免疫病態の解明 抗小脳抗体の検索
神経免疫学,25(1):132 2020(Oct.)
Author:竹腰 顕; 木村 暁夫; 吉倉 延亮; 中村 勝哉; 吉田 邦広; 下畑 享良


地域保健と遺伝子医療部門の連携に関する研究 長野県中信地域における保健師の実態調査から
日本遺伝カウンセリング学会誌,41(2):145 2020(Jun.)
Author:佐々木 亜希子; 小島 朋美; 石川 真澄; 黄瀬 恵美子; 山口 智美; 湊川 真理; 中村 勝哉; 高野 亨子; 涌井 敬子; 古庄 知己


発達の遅れ又は知的障害を伴う先天異常症候群を有する患者のきょうだいに関する研究
日本遺伝カウンセリング学会誌,41(2):143 2020(Jun.)
Author:佐久 彰子; 小島 朋美; 石川 真澄; 黄瀬 恵美子; 高野 亨子; 湊川 真理; 中村 勝哉; 涌井 敬子; 山口 智美; 古庄 知己


自己免疫性特発性小脳失調症の臨床像の検討
日本神経学会学術大会プログラム・抄録集,61st(Suppl.):S382 2020
Author:竹腰顕; 木村暁夫; 吉倉延亮; 中村勝哉; 吉田邦広; 下畑享良


GLA遺伝子c.950C>T(p.I327T)変異を有したファブリー病一家系の臨床的特徴
日本人類遺伝学会大会プログラム・抄録集,65th (CD-ROM) 2020
Author:中村勝哉; 中村勝哉; 黄瀬恵美子; 石川真澄; 阪下達哉; 花房宏昭; 花房宏昭; 関島良樹; 古庄知己; 古庄知己; 古庄知己; 古庄知己; 関島良樹


小児期に尿細管性アシドーシスと診断され,後にリジン尿性蛋白不耐症と診断された患者の長期経過
日本人類遺伝学会大会プログラム・抄録集,65th (CD-ROM) 2020
Author:花房宏昭; 花房宏昭; 中村勝哉; 中村勝哉; 中村勝哉; 山口智美; 山口智美; 小島朋美; 上条祐司; 青木薫; 加藤修明; 古庄知己; 古庄知己; 花房宏昭; 花房宏昭


網膜色素変性症と皮膚白斑を伴った家族性若年性パーキンソン病の一家系の剖検例
臨床神経学,59(Suppl.):S269 2019(Nov.)
Author:池田 淳司; 美谷島 真洋; 吉長 恒明; 中村 勝哉; 宮崎 大吾; 山口 智美; 信岡 恵実; 露崎 淳; 山田 光則; 関島 良樹


Clinical features of Kinesins superfamily proteins related multiple system neurodegeneration(和訳中)
臨床神経学,59(Suppl.):S397 2019(Nov.)
Author:Nakamura Katsuya; Biyajima Masahiro; Makishita Hideo; Kodaira Minori; Yoshida Kunihiro; Yamaguchi Tomomi; Kosho Tomoki; Sekijima Yoshiki


筋強直性ジストロフィーの遺伝カウンセリングについての検討
日本遺伝カウンセリング学会誌,40(2):134 2019(Jul.)
Author:石川 真澄; 黄瀬 恵美子; 小島 朋美; 吉長 恒明; 中村 勝哉; 関島 良樹; 古庄 知己


エーラス・ダンロス症候群を有する女性の妊娠・出産・育児についての実態調査
日本遺伝カウンセリング学会誌,40(2):84 2019(Jul.)
Author:鈴木 みづほ; 小島 朋美; 石川 真澄; 黄瀬 恵美子; 涌井 敬子; 高野 亨子; 中村 勝哉; 山口 智美; 古庄 知己


信州大学医学部附属病院遺伝子医療研究センターにおける長期フォローアップに関する包括的研究
日本遺伝カウンセリング学会誌,40(2):68 2019(Jul.)
Author:伊井 美奈代; 小島 朋美; 石川 真澄; 黄瀬 恵美子; 涌井 敬子; 高野 亨子; 中村 勝哉; 山口 智美; 古庄 知己


当院におけるトランスサイレチン型家族性アミロイドポリニューロパチーの遺伝カウンセリングの状況
日本遺伝子診療学会大会プログラム・抄録集,26th(2):92 2019
Author:中村勝哉; 石川真澄; 黄瀬恵美子; 小島朋美; 小島朋美; 吉長恒明; 吉長恒明; 関島良樹; 古庄知己; 古庄知己


KIF1A関連多系統神経変性症の臨床像:新規ミスセンス変異を有した32歳男性例の長期経過
日本人類遺伝学会大会プログラム・抄録集,64th 2019
Author:中村勝哉; 中村勝哉; 黄瀬恵美子; 山口智美; 山口智美; 吉長恒明; 小平農; 関島良樹; 古庄知己; 古庄知己


新規PDYN変異が見出された脊髄小脳変性症23型2家系の臨床的、細胞生物学的検討
臨床神経学,58(Suppl.):S265 2018(Dec.)
Author:近藤 恭史; 佐藤 俊一; 大原 愼司; 鈴木 絵美; 宮崎 大吾; 中村 勝哉; 山口 智美; 石川 真澄; 涌井 敬子; 古庄 知己; 福嶋 義光; 関島 良樹; 吉田 邦広


当院で経験した海綿静脈洞症候群13例の臨床的検討
臨床神経学,58(Suppl.):S218 2018(Dec.)
Author:臼田 真帆; 高曽根 健; 小川 有香; 近藤 恭史; 佐藤 充人; 木下 朋実; 吉長 恒明; 中村 勝哉; 宮崎 大吾; 加藤 修明; 関島 良樹


信州大学医学部附属病院における血管型エーラスダンロス症候群の診療実態調査
日本遺伝カウンセリング学会誌,38(2):97 2017(May)
Author:塚谷 延枝; 古庄 知己; 石川 真澄; 黄瀬 恵美子; 高野 亨子; 中村 勝哉; 山下 浩美; 玉井 真理子; 涌井 敬子; 河村 理恵; 福嶋 義光


脳卒中患者におけるGLA遺伝子p.E66Q変異頻度の検討
臨床神経学,56(Suppl.):S396 2016(Dec.)
Author:永松 清志郎; 中村 勝哉; 関島 良樹; 清水 雄策; 池田 修一


高度の頸部ジストニアを主徴とし、新規DCAF17遺伝子変異を認めたWoodhouse-Sakati syndromeの21歳女性例
臨床神経学,56(12):884 2016(Dec.)
Author:松野 淳洋; 宮崎 大吾; 小平 農; 中村 勝哉; 山崎 輝行; 古庄 知己; 関島 良樹; 池田 修一


ロボティックウェアcuraraによる脊髄小脳変性症患者のための歩行支援
ロボティクス・メカトロニクス講演会講演概要集,2016(0):2A2 2016
Author:所 宏美; 塚原 淳; 吉田 邦広; 松嶋 聡; 中村 勝哉; 橋本 稔
Abstract:

This paper presents the verification results of walking assist with robotic wear curara for spinocerebellar degeneration (SCD) patients. The curara assists their walking on the basis of the synchronization control method using a neural oscillator. In this study, we verified the outcome of the walking assist from the results of the harmonic ratio (HR) that is an index to assess the smooth motion and the stability of walking. Through the verification tests, the SCD patient's walk using the curara showed the statistical significance of the result of HR compared with the patient's walk without using it.




高度の頸部ジストニアを主徴とし,新規DCAF17遺伝子変異を認めたWoodhouse-Sakati syndromeの21歳女性例
臨床神経学(Web),56(12) 2016
Author:松野淳洋; 宮崎大吾; 小平農; 中村勝哉; 山崎輝行; 古庄知己; 関島良樹; 池田修一


ファブリー病における発症から診断に要する期間の検討
臨床神経学,55(Suppl.):S451 2015(Dec.)
Author:永松 清志郎; 中村 勝哉; 関島 良樹; 池田 修一


皮質性小脳萎縮症の臨床診断の深度に関する検討 診断基準案の策定に向けて
臨床神経学,55(Suppl.):S320 2015(Dec.)
Author:吉田 邦広; 中村 勝哉; 松嶋 聡; 池田 修一


心アミロイドーシスにおける虚血性脳血管障害の危険因子についての検討
臨床神経学,55(Suppl.):S243 2015(Dec.)
Author:道傳 整; 中川 道隆; 中村 勝哉; 安出 卓司; 東城 加奈; 関島 良樹; 池田 修一


脊髄小脳失調症31型の自然史多施設共同前向き調査
臨床神経学,55(Suppl.):S223 2015(Dec.)
Author:中村 勝哉; 吉田 邦広; 清水 雄策; 佐藤 充人; 松嶋 聡; 佐藤 俊一; 矢彦沢 裕之; 森田 洋; 大原 慎司; 矢澤 正信; 牛山 雅夫; 井上 敦; 池田 修一


3軸加速度計を用いた運動失調患者における歩行およびバランスの評価(Estimation of gait and balance in ataxic patients using a triaxial accelerometer)
臨床神経学,55(Suppl.):S286 2015(Dec.)
Author:Matsushima Akira; Yoshida Kunihiro; Genno Hirokazu; Murata Asuka; Nakamura Katsuya; Nakamura Akinori; Ikeda Shu-ichi


家族性アルツハイマー病を契機とした遺伝カウンセリングの実際
Dementia Japan,29(3):343 2015(Sep.)
Author:中村 勝哉; 石川 真澄; 玉井 真理子; 中川 道隆; 関島 良樹; 吉田 邦広; 池田 修一; 福嶋 義光


1P1-U05 脊髄小脳変性症患者の歩行解析
ロボティクス・メカトロニクス講演会講演概要集,2015:"1P1 2015(May 17)
Author:所 宏美; 岡野 透; 橋本 稔; 吉田 邦広; 中村 昭則; 中村 勝哉
Abstract:This study focused on gait analysis of patients with spinocerebellar degeneration (SCD) for the purpose of clinical application of robotic wear to SCD patients. The aim of this study was to investigate the physiological mechanisms underlining unsteady gait of SCD. We evaluated quantitatively and compared gait parameters in four SCD patients and two healthy control individuals (NC). The evaluations included lower joint angle (hip, knee, ankle), Center of Gravity (COG) and time factor (stance phase time, gait cycle time, double supporting phase, rate of double supporting phase). As a result, joint angle of knee and ankle showed significant differences between SCD and NC (^<**>p<0.01). COG and time factor except rate of double supporting phase showed significant differences (^*p<0.05). These data will be of value to see how gait assist to SCD patients can be achieved by robotic wear.


球脊髄性筋萎縮症の保因者診断についての検討
日本遺伝カウンセリング学会誌,36(2):129 2015(May)
Author:石川 真澄; 中村 勝哉; 黄瀬 恵美子; 山下 浩美; 玉井 真理子; 古庄 知己; 関島 良樹; 和田 敬仁; 吉田 邦広; 福嶋 義光


血管型エーラス・ダンロス症候群におけるat risk者の早期遺伝学的診断、早期介入の試み
日本遺伝カウンセリング学会誌,36(2):89 2015(May)
Author:塚谷 延枝; 古庄 知己; 石川 真澄; 黄瀬 恵美子; 高野 亨子; 中村 勝哉; 山下 浩美; 玉井 真理子; 涌井 敬子; 河村 理恵; 福嶋 義光


NGSDプロジェクト ゲノム時代の臨床遺伝専門医の育成
日本遺伝カウンセリング学会誌,36(2):87 2015(May)
Author:福嶋 義光; 古庄 知己; 中村 勝哉; 関島 良樹; 涌井 敬子; 高野 亨子; 河村 理恵; 中村 昭則; 櫻井 晃洋; 野村 文夫; 斎藤 加代子; 小杉 眞司; 難波 栄二


臨床診断 脊髄小脳変性症(SCA31)
信州医学雑誌,63(1):46 2015(Feb.)
Author:吉田 邦広; 酒井 寿明; 小見山 祐一; 小柳 清光; 清水 雄策; 水澤 英洋; 中村 勝哉


臨床診断 脊髄小脳変性症(SCA6)、口唇ジスキネジア、卵巣癌
信州医学雑誌,63(1):41 2015(Feb.)
Author:吉田 邦広; 北沢 邦彦; 岩谷 舞; 小柳 清光; 木下 朋実; 中村 勝哉; 関島 良樹; 清水 雄策; 高 昌星; 水澤 英洋


若年性認知症を呈するHDLS、CADASIL、Fabry病の脳画像の特徴
臨床神経学,54(Suppl.):S214 2014(Dec.)
Author:小林 千夏; 近藤 恭史; 木下 通亨; 中村 勝哉; 福島 和広; 吉田 邦広; 池田 修一


Fabry病患者の脳卒中と脳卒中スクリーニングで発見したp.E66Q変異を有する患者の比較
臨床神経学,54(Suppl.):S213 2014(Dec.)
Author:永松 清志郎; 中村 勝哉; 関島 良樹; 清水 雄策; 池田 修一


脊髄小脳失調症31型の自然史
臨床神経学,54(Suppl.):S32 2014(Dec.)
Author:中村 勝哉; 吉田 邦広; 清水 雄策; 兼子 一真; 佐藤 俊一; 矢彦沢 裕之; 森田 洋; 大原 慎司; 矢澤 正信; 牛山 雅夫; 佐藤 充人; 宮崎 大吾; 井上 敦; 池田 修一


Comment on 'p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males' Response
EUROPEAN JOURNAL OF NEUROLOGY,21(8):E63 2014(Aug.)
Author:K. Nakamura; Y. Sekijima


疾病中心から患者中心の希少難治性疾患研究を可能とする患者支援団体と専門家集団とのネットワーク構築(第3報)
日本遺伝カウンセリング学会誌,35(2):114 2014(May)
Author:河村 理恵; 松原 洋一; 野村 文夫; 斎藤 加代子; 高田 史男; 小杉 眞司; 玉置 知子; 櫻井 晃洋; 関島 良樹; 涌井 敬子; 加藤 光広; 小泉 二郎; 中村 勝哉; 香取 久之; 古庄 知己; 福嶋 義光


てんかん発作を契機に横紋筋融解症を来したアルコール多飲者4例の臨床像の検討
諏訪赤十字医学雑誌,8:77 2014(Mar.)
Author:兼子 一真; 吉長 恒明; 中村 勝哉; 吉田 拓弘; 池田 修一


神経内科受診の契機となったファブリー病の臨床症状の検討
臨床神経学,53(12):1581 2013(Dec.)
Author:永松 清志郎; 中村 勝哉; 関島 良樹; 池田 修一


小脳失調、末梢神経障害を伴った劣性遺伝性痙性対麻痺家系の遺伝子解析
臨床神経学,53(12):1540 2013(Dec.)
Author:嶋崎 晴雄; 本多 純子; 直井 為任; 滑川 道人; 石浦 浩之; 福田 陽子; 高橋 祐二; 後藤 順; 辻 省次; 矢崎 正英; 中村 勝哉; 吉田 邦広; 池田 修一; 瀧山 嘉久; 中野 今治


胃切除後の銅欠乏とミエロパチーの関連
臨床神経学,53(12):1519 2013(Dec.)
Author:吉長 恒明; 兼子 一真; 中村 勝哉; 池田 修一


脊髄小脳失調症31型の自然史 多施設共同前向き調査
臨床神経学,53(12):1435 2013(Dec.)
Author:中村 勝哉; 吉田 邦広; 宮崎 大吾; 兼子 一真; 清水 雄策; 佐藤 俊一; 矢彦沢 裕之; 森田 洋; 大原 慎司; 矢澤 正信; 牛山 雅夫; 池田 修一


ぶどう膜炎で発症し、急性増悪期の髄液中より抗GluRε2抗体が検出され、成人発症Rasmussen症候群が疑われた32歳男性例
臨床神経学,53(3):257 2013(Mar.)
Author:中村 勝哉; 吉長 恒明; 兼子 一真; 高橋 幸利; 池田 修一


SIADHで再発したNMO spectrum disorderの51歳男性例
臨床神経学,53(2):169 2013(Feb.)
Author:吉長 恒明; 中村 勝哉; 兼子 一真; 池田 修一


MRIで責任病巣が確認できたWEBINO症候群と考えられる73歳男性例
臨床神経学,53(2):154 2013(Feb.)
Author:吉長 恒明; 中村 勝哉; 兼子 一真; 池田 修一


てんかん発作を契機に横紋筋融解症を来したアルコール多飲者4例の臨床像の検討
臨床神経学,52(12):1534 2012(Dec.)
Author:兼子 一真; 吉長 恒明; 中村 勝哉; 吉田 拓弘; 池田 修一


当院における尾状核出血の臨床像
臨床神経学,52(12):1486 2012(Dec.)
Author:吉長 恒明; 中村 勝哉; 兼子 一真


新規TITF-1遺伝子変異を認めた良性家族性舞踏病の家系の臨床的および分子生物学的検討
臨床神経学,52(12):1410 2012(Dec.)
Author:中村 勝哉; 関島 良樹; 永松 清志郎; 吉田 邦広; 池田 修一


臨床診断 レビー小体型認知症、肺炎
信州医学雑誌,60(2):106 2012(Apr.)
Author:山嵜 正志; 中村 勝哉; 永松 清志郎; 池田 修一; 佐野 健司; 小柳 清光; 矢彦沢 裕之; 齊藤 祐子; 関島 良樹; 中村 昭則; 高 昌星; 橋本 隆男; 森田 洋


α-galactosidaseA遺伝子p.E66Q変異は日本人男性高齢者における脳卒中の遺伝的危険因子である
臨床神経学,51(12):1236 2011(Dec.)
Author:中村 勝哉; 関島 良樹; 永松 清志郎; 吉田 拓弘; 清水 雄策; 矢崎 正英; 牛山 雅夫; 牧下 英夫; 服部 希世子; 中村 公俊; 遠藤 文夫; 池田 修一


成人型シトルリン血症患者に対する脳死体からの本邦初の肝移植
移植,46(6):683 2011(Dec.)
Author:日根野 晃代; 松嶋 聡; 中村 勝哉; 福島 和広; 矢崎 正英; 池田 修一; 池上 俊彦; 宮川 眞一


成人発症Triple A症候群(Allgrove症候群)の60歳男性例
臨床神経学,51(1):58 2011(Jan.)
Author:吉長 恒明; 中村 勝哉; 下島 恭弘; 吉田 邦広; 池田 修一


脳出血を合併したFabry病の臨床像
臨床神経学,50(12):1176 2010(Dec.)
Author:永松 清志郎; 中村 勝哉; 関島 良樹; 清水 雄策; 牛山 雅夫; 服部 希世子; 中村 公俊; 池田 修一


外傷の誘因なく発症したComplex regional pain syndromeの4例
臨床神経学,50(12):1146 2010(Dec.)
Author:吉長 恒明; 中村 勝哉; 永松 清志郎; 小平 農; 下島 恭弘; 松田 正之; 池田 修一


脳梗塞患者におけるFabry病の有病率
臨床神経学,50(12):1090 2010(Dec.)
Author:中村 勝哉; 関島 良樹; 永松 清志郎; 吉田 拓弘; 矢崎 正英; 清水 雄策; 牛山 雅夫; 服部 希世子; 中村 公俊; 遠藤 文夫; 池田 修一


【Fabry病 update】Fabry病と脳血管障害
神経内科,73(2):173 2010(Aug.)
Author:中村 勝哉; 関島 良樹


末梢神経障害を伴った脊髄小脳変性症(SCD)患者の臨床像
臨床神経学,49(12):1121 2009(Dec.)
Author:中村 勝哉; 吉田 邦広; 関島 良樹; 森田 洋; 露崎 淳; 大原 慎司; 牧下 英夫; 池田 修一


SPG17の原因遺伝子seipinのナンセンス変異をヘテロ接合で認めた痙性対麻痺の1家系
臨床神経学,49(12):1114 2009(Dec.)
Author:嶋崎 晴雄; 滑川 道人; 中野 今治; 石浦 浩之; 高橋 祐二; 後藤 順; 辻 省次; 矢崎 正英; 中村 勝哉; 吉田 邦広; 池田 修一; 瀧山 嘉久


著明な低体温・徐脈発作を呈した非ヘルペス性辺縁系脳炎の2症例
臨床神経学,49(12):1042 2009(Dec.)
Author:永松 清志郎; 中村 勝哉; 内藤 康介; 矢崎 正英; 福島 和広; 吉田 邦広; 池田 修一


眼瞼下垂で発症し、重症筋無力症様の症状を呈したALSの71歳男性例
臨床神経学,49(2-3):138 2009(Mar.)
Author:中村 勝哉; 内藤 康介; 石井 亘; 吉田 邦広; 池田 修一


16番染色体長腕に連鎖する優性遺伝性脊髄小脳変性症(16q-ADCA)の自然史
臨床神経学,48(12):1120 2008(Dec.)
Author:吉田 邦広; 清水 雄策; 森田 洋; 中村 勝哉; 田澤 浩一; 岡野 友美; 大原 慎司; 井上 敦; 田畑 賢一; 佐藤 俊一; 池田 修一


脊髄小脳失調症6型(SCA6)に対するガバペンチン療法
臨床神経学,48(12):1086 2008(Dec.)
Author:中村 勝哉; 吉田 邦広; 宮崎 大吾; 森田 洋; 池田 修一


脊髄小脳失調症6型(SCA6)に対するガバペンチン療法
日本内科学会雑誌,97(Suppl.):168 2008(Feb.)
Author:中村 勝哉; 吉田 邦広; 宮崎 大吾; 森田 洋; 池田 修一


顕微鏡的多発血管炎の治療中に非ホジキンリンパ腫が診断された57歳男性例
臨床神経学,46(8):590 2006(Aug.)
Author:星 研一; 中村 勝哉; 牧下 英夫; 北野 喜良


内側後脈絡叢動脈領域梗塞の一例
臨床神経学,46(7):514 2006(Jul.)
Author:中村 勝哉; 星 研一; 牧下 英夫; 塚原 隆司; 池田 修一

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ユニット講義神経
臨床遺伝学
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