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Nakamura Katsuya

Academic OrganizationAcademic Assembly School of Medicine and Health Sciences Institute of MedicineTEL+81-263-37-2618
Education and Research OrganizationUniversity Hospital Center for Medical GeneticsFAX+81-263-37-2619
PositionSenior Assistant ProfessorMail Address
Address3-1-1, Asahi, Matsumoto City 390-8621Web sitehttps://researchmap.jp/katsuya/?lang=english

Modified:03/25/2024

Profile

Assigned Class
Department of Medicine (Neurology & Rheumatology)
Department of Neurology
Research Field
Neurogenetics
Neurology
Clinical Genetics
Genetics
Neurology
Keywords:Neurogenetics , Genetic Counseling , Ataxia
Academic Societies
Academic Societies
MOVEMENT DISORDER SOCIETY OF JAPAN
JAPAN SOCIETY FOR DEMENTIA RESEARCH
THE JAPAN STROKE SOCIETY
THE JAPAN SOCIETY OF HUMAN GENETICS
JAPANESE SOCIETY OF NEUROLOGY
THE JAPANESE SOCIETY OF INTERNAL MEDICINE
Japanese Society for Genetic Counseling
Academic Background
Degree
PhD. , Shinshu University
Research Career
Research Career
2018- , Senior Assistant Professor, Center for Medical Genetics, Shinshu University Hospital
2016-2018 , Postdoctoral Associate, Center for Neurogenetics, University of Florida, USA
2013-2016 , Senior Assistant Professor, Division of Clinical and Molecular genetics, Shinshu University Hospital
2013-2013 , Assistant Professor, Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
2011-2013 , Japanese Red Cross Society Suwa Hospital

Overseas Education
2016-2018 , University of Florida, Center for Neurogenetics

Research

Books, Articles, etc.
Books
遺伝カウンセリングマニュアル
南江堂 2016
Author:中村勝哉


病初期から高音性難聴がみられる古典型ファブリー病の1例, ファブリー病症例集 : 早期診断・早期治療のために : 古典型亜型ヘテロ型
メディカルトリビューン 2014(Dec.)
Author:衛藤, 義勝


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


Articles
Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman.
JIMD reports,64(6):410-416 2023(Nov.)
Author:Hiroaki Hanafusa; Katsuya Nakamura; Yuji Kamijo; Masashi Kitahara; Takashi Ehara; Tsuneaki Yoshinaga; Kaoru Aoki; Nagaaki Katoh; Tomomi Yamaguchi; Tomoki Kosho; Yoshiki Sekijima
Abstract:Lysinuric protein intolerance (LPI), caused by pathogenic variants of SLC7A7, is characterized by protein aversion, failure to thrive, hyperammonemia, and hepatomegaly. Recent studies have reported that LPI can cause multiple organ dysfunctions, including kidney disease, autoimmune deficiency, pulmonary alveolar proteinosis, and osteoporosis. We report the case of a 47-year-old Japanese woman who was initially diagnosed with renal tubular acidosis (RTA), Fanconi syndrome, and rickets. At the age of 3 years, she demonstrated a failure to thrive. Urinary amino acid analysis revealed elevated lysine and arginine levels, which were masked by pan-amino aciduria. She was subsequently diagnosed with rickets at 5 years of age and RTA/Fanconi syndrome at 15 years of age. She was continuously treated with supplementation of vitamin D3, phosphate, and bicarbonate. A renal biopsy at 18 years of age demonstrated diffuse proximal and distal tubular damage with endocytosis-lysosome pathway abnormalities. Distinctive symptoms of LPI, such as protein aversion and postprandial hyperammonemia were not observed throughout the patient's clinical course. The patient underwent a panel-based comprehensive genetic testing and was diagnosed with LPI. As the complications of LPI involve many organs, patients lacking distinctive symptoms may develop various diseases, including RTA/Fanconi syndrome. Our case indicates that proximal and distal tubular damages are notable findings in patients with LPI. The possibility of LPI should be carefully considered in the management of RTA/Fanconi syndrome and/or incomprehensible pathological tubular damage, even in the absence of distinctive symptoms; furthermore, a comprehensive genetic analysis is useful for diagnosing LPI.


Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1A.
Internal medicine (Tokyo, Japan),62(20):3047-3051 2023(Oct. 15)
Author:Katsuya Nakamura; Tsuneaki Yoshinaga; Minori Kodaira; Emiko Kise; Tomoki Kosho; Yoshiki Sekijima
Abstract:We encountered a 37-year-old Japanese man with KIF1A-associated neurological disorder (KAND) who exhibited motor developmental delay, intellectual disability, and slowly progressive cerebellar ataxia, hypotonia, and optic neuropathy. Pyramidal tract signs were evident late in this case. At 30 years old, the patient developed a neurogenic bladder. A molecular diagnosis revealed a uniallelic missense de novo variant (p.L278P) of KIF1A. Serial neuroradiological studies revealed atrophy of the cerebellum at an early age, and cerebral hemisphere atrophy progressed slowly over a 22-year observation period. Our study suggests that the primary etiology of KAND may be acquired, long-standing neurodegeneration rather than congenital hypoplasia.


Clinical Features and Neuroimaging Findings of Neuropil Antibody-Positive Idiopathic Sporadic Ataxia of Unknown Etiology.
Cerebellum (London, England),22(5):915-924 2023(Oct.)
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.


Tongue Hemiatrophy in Multifocal Motor Neuropathy.
Internal medicine (Tokyo, Japan),62(18):2759-2760 2023(Sep. 15)
Author:Masateru Tajiri; Minori Kodaira; Katsuya Nakamura; Yoshiki Sekijima


Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease.
Molecular genetics and metabolism reports,36:100983-100983 2023(Sep.)
Author:Katsuya Nakamura; Saki Mukai; Yuka Takezawa; Yuika Natori; Akari Miyazaki; Yuichiro Ide; Mayu Takebuchi; Kana Nanato; Mizuki Katoh; Harue Suzuki; Akiko Sakyu; Tomomi Kojima; Emiko Kise; Hiroaki Hanafusa; Tomoki Kosho; Koichiro Kuwahara; Yoshiki Sekijima
Abstract:INTRODUCTION: Variants in the galactosidase alpha (GLA) gene cause Fabry disease (FD), an X-linked lysosomal storage disorder caused by α-galactosidase A (α-GAL) deficiency. Recently, disease-modifying therapies have been developed, and simple diagnostic biomarkers for FD are required to initiate these therapies in the early stages of the disease. Detection of urinary mulberry bodies and cells (MBs/MCs) is beneficial for diagnosing FD. However, few studies have evaluated the diagnostic accuracy of urinary MBs/MCs in FD. Herein, we retrospectively evaluated the diagnostic ability of urinary MBs/MCs for FD. METHODS: We analyzed the medical records of 189 consecutive patients (125 males and 64 females) who underwent MBs/MCs testing. Out of these, two female patients had already been diagnosed with FD at the time of testing, and the remaining 187 patients were suspected of having FD and underwent both GLA gene sequencing and/or α-GalA enzymatic testing. RESULTS: Genetic testing did not confirm the diagnosis in 50 females (26.5%); hence, they were excluded from the evaluation. Two patients were previously diagnosed with FD, and sixteen were newly diagnosed. Among these 18 patients, 15, including two who had already developed HCM at diagnosis, remained undiagnosed until targeted genetic screening of at-risk family members of patients with FD was performed. The accuracy of urinary MBs/MCs testing exhibited a sensitivity of 0.944, specificity of 1, positive predictive value of 1, and negative predictive value of 0.992. CONCLUSIONS: MBs/MCs testing is highly accurate in diagnosing FD and should be considered during the initial evaluation prior to genetic testing, particularly in female patients.


Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant.
Internal medicine (Tokyo, Japan) 2023(Aug. 09)
Author:Gaku Okumura; Katsuya Nakamura; Rie Seyama; Yuri Uchiyama; Jun Shinagawa; Shinya Nishio; Junji Ikeda; Shohei Takayama; Minori Kodaira; Tomoki Kosho; Yutaka Takumi; Naomichi Matsumoto; Yoshiki Sekijima
Abstract:We encountered a 27-year-old Japanese woman with sensorineural deafness progressing to motor and sensory neuropathy. At 16 years old, she had developed weakness in her lower extremities and hearing impairment, which gradually deteriorated. At 22 years old, combined audiological, electrophysiological, and radiological examination results were consistent with auditory neuropathy spectrum disorder (ANSD). Genetic analyses identified a previously reported missense variant in the ATP1A1 gene (NM_000701.8:c.1799C>G, p.Pro600Arg). Although sensorineural deafness has been reported as a clinical manifestation of ATP1A1-related disorders, our case suggested that ANSD may underlie the pathogenesis of deafness in ATP1A1-related disorders. This case report broadens the genotype-phenotype spectrum of ATP1A1-related disorders.


Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1.
Neurology. Genetics,9(1):e200047 2023(Feb.)
Author:Yasufumi Kondo; Tsuneaki Yoshinaga; Katsuya Nakamura; Tomomi Yamaguchi; Masumi Ishikawa; Tomoki Kosho; Yoshiki Sekijima
Abstract:OBJECTIVE: To investigate the clinical effect of a heterozygous missense variant of HTRA1 on cerebral small vessel disease (CSVD) in a large Japanese family with a p.A252T variant. METHODS: We performed clinical, laboratory, radiologic, and genetic evaluations of members of a previously reported family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). RESULTS: Two family members were previously reported patients with CARASIL. Among 6 uniallelic p.A252T carriers, 2 had neurologic symptoms with brain MRI abnormalities, 2 showed CSVD on the MRI only, and the other 2 were unaffected. Clinical phenotypes of 2 heterozygous patients were comparable with those of patients with CARASIL, whereas the other 3 heterozygous patients had developed milder and later-onset CSVD. One heterozygous carrier was asymptomatic. DISCUSSION: Previous studies have suggested that uniallelic p.A252T causes disease. However, our study revealed that patients with uniallelic p.A252T can have severe and young-onset CSVD. The clinical manifestations of uniallelic variant carriers were highly variable, even within the same family. Male and atherosclerotic risk factors were considered to be additional factors in the severity of neurologic symptoms in uniallelic p.A252T carriers, suggesting that strict control of vascular risk factors can prevent vascular events in uniallelic HTRA1 carriers.


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)


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.


Presymptomatic Genetic Testing and Management of Individuals at Risk
The Shinshu Medical Journal,68(3):125-130 2020(Jun.)
Author:Katsuya NAKAMURA
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.


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


臨床診断 脊髄小脳変性症(SCA31)
信州医学雑誌,63(1):46-49 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):41-46 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


A case report of WEBINO syndrome with convergence impairment
J. Neurol. Neurophysiol.,6:1-4 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.


臨床診断 レビー小体型認知症、肺炎
信州医学雑誌,60(2):106-118 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


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.


【Fabry病 update】Fabry病と脳血管障害
神経内科,73(2):173-178 2010(Aug.)
Author:中村 勝哉; 関島 良樹


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.


Presentations
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


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
難病診療連携コーディネーターと難病相談支援センターによる継続的な神経難病患者支援体制構築の試み
日本難病医療ネットワーク学会機関誌,11(1):116-116 2023(Nov.)
Author:日根野 晃代; 両角 由里; 渡邉 優貴; 中村 勝哉; 中村 昭則


Auditory neuropathy spectrum disorderを伴ったCharcot-Marie-Tooth disease type 2DDの27歳女性例
臨床神経学,63(11):776-776 2023(Nov.)
Author:奥村 学; 中村 勝哉; 池田 淳司; 小平 農; 品川 潤; 工 穣; 松本 直通; 関島 良樹


遺伝性痙性対麻痺SPG26原因遺伝子B4GALNT1の新規変異およびバリアントの機能解析
日本生化学会大会プログラム・講演要旨集,96回:[1P-035] 2023(Oct.)
Author:稲森 啓一郎; 宍戸 史; 許 家甄; 永福 正和; 新田 昂大; 中村 勝哉; 土田 奈緒美; 池田 淳司; 小平 農; 栂谷内 晶; 古川 潤一; 山口 芳樹; 木下 聖子; 要 匡; 中村 豊; 大野 勲; 中村 雅彦; 下畑 享良; 松本 直通; 古庄 知己; 関島 良樹; 木下 賢吾; 西原 祥子; 井ノ口 仁一


ファブリー病診断時における尿中マルベリー小体の検出の有用性
日本遺伝カウンセリング学会誌,44(2):104-104 2023(Jun.)
Author:中村 勝哉; 向井 早紀; 竹澤 由夏; 名取 結加; 宮崎 あかり; 井出 裕一郎; 竹渕 真由; 七戸 加奈; 加藤 瑞己; 鈴木 晴媛; 黄瀬 恵美子; 古庄 知己; 桑原 宏一郎; 関島 良樹


遺伝性神経疾患をめぐる現状と課題 治療法のある遺伝性疾患の遺伝カウンセリング ATTRv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,44(2):60-60 2023(Jun.)
Author:中村 勝哉


Functional analysis of novel mutation and variants in the hereditary spastic paraplegia causative gene B4GALNT1
日本糖質学会年会要旨集,42nd 2023
Author:稲森啓一郎; 宍戸史; HSU Jia-Chen; 永福正和; 新田昂大; 中村勝哉; 中村勝哉; 土田奈緒美; 池田淳司; 小平農; 栂谷内晶; 古川潤一; 山口芳樹; 木下聖子; 要匡; 中村豊; 大野勲; 中村雅彦; 下畑享良; 松本直通; 古庄知己; 古庄知己; 関島良樹; 木下賢吾; 西原祥子; 井ノ口仁一


トランスサイレチン型遺伝性アミロイドーシスにおける発症前遺伝子診断の現状
日本神経学会学術大会プログラム・抄録集,64th 2023
Author:中村勝哉; 中村勝哉; 佐久彰子; 吉長恒明; 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
日本神経学会学術大会プログラム・抄録集,64th 2023
Author:吉倉延亮; 山原直紀; 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医師主導治験
臨床神経学,62(Suppl.):S309-S309 2022(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; 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(第2報)
臨床神経学,62(Suppl.):S272-S272 2022(Oct.)
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


本邦初のB4GALNT1関連神経変性症の臨床的特徴
臨床神経学,62(Suppl.):S208-S208 2022(Oct.)
Author: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; 関島 良樹


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):667-667 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):84-84 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):310-310 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):78-78 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


自身の遺伝性疾患を家族に「伝える」-成人期発症常染色体顕性遺伝性疾患を有するクライエントとその家族への遺伝カウンセリング
日本人類遺伝学会大会プログラム・抄録集,67th (CD-ROM) 2022
Author:佐久彰子; 中村勝哉; 中村勝哉; 黄瀬恵美子; 黄瀬恵美子; 小島朋美; 永井爽; 小平農; 古庄知己; 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3年度 総括・分担研究報告書(Web) 2022
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; 吉田邦広; 関島良樹; 戸田達史; 戸田達史


ファブリー病診断時における,尿中マルベリー小体と遺伝学的検査結果の一致率
日本人類遺伝学会大会プログラム・抄録集,67th (CD-ROM) 2022
Author:中村勝哉; 中村勝哉; 黄瀬恵美子; 黄瀬恵美子; 石川真澄; 向井早紀; 竹澤由夏; 名取結加; 宮崎あかり; 井出裕一郎; 竹渕真由; 七戸加奈; 加藤瑞己; 鈴木晴媛; 古庄知己; 古庄知己; 関島良樹


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):628-628 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):161-161 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


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-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-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-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-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-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:104-104 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:104-104 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


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):127-127 2021(Jun.)
Author:井野元 茜; 小島 朋美; 石川 真澄; 黄瀬 恵美子; 佐久 彰子; 湊川 真理; 中村 勝哉; 涌井 敬子; 高野 亨子; 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):124-124 2021(Jun.)
Author:佐久 彰子; 石川 真澄; 黄瀬 恵美子; 小島 朋美; 中村 勝哉; 高野 亨子; 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):100-100 2021(Jun.)
Author:中村 勝哉; 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


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):95-95 2021(Jun.)
Author:黄瀬 恵美子; 中村 勝哉; 石川 真澄; 阪下 達哉; 花房 宏昭; 古庄 知己


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):73-73 2021(Jun.)
Author:加藤 純子; 小島 朋美; 石川 真澄; 黄瀬 恵美子; 佐久 彰子; 湊川 真理; 中村 勝哉; 高野 亨子; 涌井 敬子; 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):56-56 2021(Jun.)
Author:阪下 達哉; 中村 勝哉; 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


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):53-53 2021(Jun.)
Author:中橋 紗代子; 小島 朋美; 石川 真澄; 黄瀬 恵美子; 佐久 彰子; 湊川 真理; 中村 勝哉; 高野 亨子; 涌井 敬子; 古庄 知己


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


自己免疫性特発性小脳失調症の臨床像の検討
臨床神経学,60(Suppl.):S382-S382 2020(Nov.)
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-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):132-132 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):145-145 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):143-143 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


網羅的遺伝子解析によりWoodhouse-Sakati症候群およびKrabbe病の合併が明らかになった1例
日本人類遺伝学会大会プログラム・抄録集,65th (CD-ROM) 2020
Author:石神遼吾; 湊川真理; 湊川真理; 奥村学; 奥村学; 中村勝哉; 中村勝哉; 関島良樹; 古庄知己; 古庄知己; 古庄知己; 古庄知己


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-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 KIF1A-Related Disorders: A Japanese patient with a novel missense variant and literature review
The American Society of Human Genetics 2019 Annual Meeting 2019(Oct. 17)
Author: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
Neuro2019 2019(Jul. 27)
Author:L Ranum; L Nguyen; F Montrasio; O Bardhi; S Guo; SK Tusi; K Nakamura; MB Coronel; N Sonenberg; J Grimm; T Zu


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):134-134 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


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
日本遺伝カウンセリング学会誌,40(2):92-92 2019(Jul.)
Author:中村 勝哉; 石川 真澄; 黄瀬 恵美子; 小島 朋美; 吉長 恒明; 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):84-84 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):68-68 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


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


TRPC6変異による乳児期発症のステロイド抵抗性ネフローゼ症候群の1男児例
日本人類遺伝学会大会プログラム・抄録集,64th 2019
Author:花房宏昭; 花房宏昭; 日高義彦; 日高義彦; 村瀬翼; 山口智美; 山口智美; 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; 古庄知己


運動失調症の医療基盤に関する調査研究 特発性小脳失調症(IDCA)の全国実態調査-第1報-
運動失調症の医療基盤に関する調査研究 平成30年度 総括・分担研究報告書(Web) 2019
Author:吉田邦広; 中村勝哉; 松嶋聡; 関島良樹; 桑原聡; 高橋祐二; 佐々木秀直; 水澤英洋


運動失調症の医療基盤に関する調査研究 3軸加速度計による失調性歩行の定量的評価:時系列データの解析
運動失調症の医療基盤に関する調査研究 平成30年度 総括・分担研究報告書(Web) 2019
Author:吉田邦広; 松嶋聡; 松嶋聡; 中村勝哉; 関島良樹


筋強直性ジストロフィーの両親検索についての検討
日本人類遺伝学会大会プログラム・抄録集,64th 2019
Author:石川真澄; 黄瀬恵美子; 黄瀬恵美子; 小島朋美; 高野亨子; 吉長恒明; 中村勝哉; 中村勝哉; 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-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-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


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)
Author:Katsuya Nakamura; Tyisha J. Hathorn; Karen Armbrus; 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 Ashizawa; d Laura; P.W. Ranum


新規PDYN変異が見出された脊髄小脳失調症23型2家系の臨床的,細胞生物学的検討
日本人類遺伝学会大会プログラム・抄録集,63rd 2018
Author:近藤恭史; 近藤恭史; 佐藤俊一; 大原慎司; 鈴木絵美; 中村勝哉; 宮崎大吾; 山口智美; 石川真澄; 涌井敬子; 涌井敬子; 古庄知己; 古庄知己; 福嶋義光; 福嶋義光; 関島良樹; 吉田邦広


特発性小脳失調症(idiopathic cerebellar ataxia)63名のfollow up
運動失調症の医療基盤に関する調査研究 平成29年度 総括・分担研究報告書(Web) 2018
Author:吉田邦広; 桑原聡; 松嶋聡; 松嶋聡; 中村勝哉; 山中義崇; 別府美奈子


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包括的クリニカルシークエンスの現状
日本人類遺伝学会大会プログラム・抄録集,63rd 2018
Author:藤川朝海; 山口智美; 重藤翔平; 根岸達哉; 石川真澄; 黄瀬恵美子; 小島朋美; 藤田直久; 藤田直久; 高野亨子; 高野亨子; 吉長恒明; 中村勝哉; 涌井敬子; 涌井敬子; 松田和之; 福嶋義光; 古庄知己; 古庄知己


脊髄性筋萎縮症(SMA)の一家系-SMA type IVの71歳高齢女性を中心に報告する-
日本人類遺伝学会大会プログラム・抄録集,63rd 2018
Author:上野晃弘; 上野晃弘; 上野晃弘; 吉長恒明; 吉長恒明; 中村勝哉; 中村勝哉; 古庄知己; 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):97-97 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


運動失調症の医療基盤に関する調査研究 皮質性小脳萎縮症の診断基準案の策定および臨床的検討と失調性歩行の定量的評価法の開発
運動失調症の医療基盤に関する調査研究班 平成26-28年度 総合研究報告書(Web) 2017
Author:吉田邦広; 松嶋聡; 中村勝哉; 松嶋聡; 中村勝哉; 桑原聡


運動失調症の医療基盤に関する調査研究 皮質性小脳萎縮症の診断基準案の策定と臨床的検討
運動失調症の医療基盤に関する調査研究班 平成28年度 総括・分担研究報告書(Web) 2017
Author:吉田邦広; 松嶋聡; 中村勝哉; 桑原聡


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-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):884-884 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


少量のL-dopaで症状が消失した成人発症のジストニア・パーキンソニズムの1例
第139回日本内科学会信越地方会 2016(Oct. 22)
Author:竹子 優歩; 江澤 直樹; 宮崎 大吾; 中村 勝哉; 関島 良樹; 池田 修一


Next Generation Sequencing as a Clinical Diagnostic Tool for Hereditary Spinocerebellar Degeneration
The 13th International Congress of Human Genetics 2016(Apr.)
Author: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


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
日本機械学会ロボティクス・メカトロニクス講演会講演論文集(CD-ROM),2016 2016
Author:所宏美; 塚原淳; 吉田邦広; 松嶋聡; 中村勝哉; 橋本稔


運動失調症の医療基盤に関する調査研究 皮質性小脳萎縮症診断基準案を満たす症例の臨床的検討:信州大学症例
運動失調症の医療基盤に関する調査研究 平成27年度 総括・分担研究報告書 2016
Author:吉田邦広; 中村勝哉; 松嶋聡; 桑原聡


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-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-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-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-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


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):343-343 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


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):129-129 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):89-89 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):87-87 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


脊髄小脳変性症患者の歩行解析
日本機械学会ロボティクス・メカトロニクス講演会講演論文集(CD-ROM),2015 2015
Author:所宏美; 吉田邦広; 岡野透; 中村昭則; 橋本稔; 中村勝哉


運動失調症の医療基盤に関する調査研究 3軸加速度計を用いた小脳失調症における立位・歩行機能の定量的評価の有用性
運動失調症の医療基盤に関する調査研究 平成26年度 総括・分担研究報告書 2015
Author:吉田邦広; 松嶋聡; 源野広和; 村田あす香; 中村勝哉; 中村昭則; 池田修一


運動失調症の医療基盤に関する調査研究 皮質性小脳萎縮症の診断基準案策定(1)
運動失調症の医療基盤に関する調査研究 平成26年度 総括・分担研究報告書 2015
Author:吉田邦広; 中村勝哉; 松嶋聡; 池田修一; 桑原聡


次世代シーケンサを併用した脊髄小脳変性症関連遺伝子解析の試み
日本人類遺伝学会大会プログラム・抄録集,60th 2015
Author:中村勝哉; 吉田邦広; 古庄知己; 高野亨子; 涌井敬子; 佐藤俊一; 関島良樹; 福嶋義光; 福嶋義光


X連鎖性遺伝性疾患の保因者に対する遺伝カウンセリングの検討
日本人類遺伝学会大会プログラム・抄録集,60th 2015
Author:石川真澄; 中村勝哉; 中村勝哉; 黄瀬恵美子; 黄瀬恵美子; 山下浩美; 山下浩美; 玉井眞理子; 玉井眞理子; 高野亨子; 高野亨子; 古庄知己; 古庄知己; 関島良樹; 和田敬仁; 吉田邦広; 櫻井晃洋; 福嶋義光; 福嶋義光


指定難病と遺伝性疾患
日本人類遺伝学会大会プログラム・抄録集,60th 2015
Author:福嶋義光; 高野亨子; 中村勝哉; 小崎健次郎


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-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-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-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


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):114-114 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,8:77-77 2014(Mar.)
Author:兼子 一真; 吉長 恒明; 中村 勝哉; 吉田 拓弘; 池田 修一


運動失調症の病態解明と治療法開発に関する研究 特定疾患新規申請時にCCAと診断された患者の追跡調査から見えるもの
運動失調症の病態解明と治療法開発に関する研究 平成25年度 総括・分担研究報告書 2014
Author:吉田邦広; 中村勝哉; 橋本隆男; 池田修一


運動失調症の病態解明と治療法開発に関する研究 脊髄小脳失調症31型の自然史 多施設共同前向き調査
運動失調症の病態解明と治療法開発に関する研究 平成25年度 総括・分担研究報告書 2014
Author:吉田邦広; 中村勝哉; 宮崎大吾; 森田洋; 池田修一; 佐藤充人; 兼子一真; 清水雄策; 佐藤俊一; 矢彦沢裕之; 大原慎司; 矢沢正信; 牛山雅夫; 井上敦


次世代シーケンサion PGMを用いた遺伝性結合組織疾患パネル解析
日本遺伝子診療学会大会プログラム・抄録集,21st 2014
Author:古庄知己; 古庄知己; 山口智美; 石川真澄; 黄瀬恵美子; 高野亨子; 高野亨子; 中村勝哉; 涌井敬子; 涌井敬子; 福嶋義光; 福嶋義光


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に関する研究
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に関する研究 平成25年度 総括・分担研究報告書 2014
Author:福嶋義光; 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; 古庄知己; 中村勝哉; 河村理恵; 黄瀬恵美子; 高野亨子; 石川真澄


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):1581-1581 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):1540-1540 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):1519-1519 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):1435-1435 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


くも膜下出血で発症した脳静脈洞血栓症の1例
第132回日本内科学会信越地方会 2013(Jun. 08)
Author:安出 卓司; 金井 将史; 中村 勝哉; 兼子 一真


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):257-257 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):169-169 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):154-154 2013(Feb.)
Author:吉長 恒明; 中村 勝哉; 兼子 一真; 池田 修一


運動失調症の病態解明と治療法開発に関する研究 小脳失調,末梢神経障害を伴った遺伝性痙性対麻痺家系の遺伝子解析
運動失調症の病態解明と治療法開発に関する研究 平成24年度 総括・分担研究報告書 2013
Author:嶋崎晴雄; 本多純子; 直井為任; 滑川道人; 中野今治; 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


遺伝性・先天性疾患に対する横断的診療連携体制の構築:信州大学医学部附属病院遺伝子診療部の取り組み
日本人類遺伝学会大会プログラム・抄録集,58th 2013
Author:石川真澄; 古庄知己; 黄瀬恵美子; 中村勝哉; 中村勝哉; 山崎雅則; 山崎雅則; 玉井真理子; 玉井真理子; 山下浩美; 高津亜希子; 菊地範彦; 大平哲史; 金井誠; 丸山孝子; 河村理恵; 涌井敬子; 関島良樹; 櫻井晃洋; 福嶋義光; 福嶋義光


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(第二報)
日本人類遺伝学会大会プログラム・抄録集,58th 2013
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; 涌井敬子; 加藤光広; 小泉二郎; 加賀俊裕; 黄瀬恵美子; 中村勝哉; 古庄知己; 古庄知己; 石川真澄; 福嶋義光; 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
臨床神経学,52(12):1534-1534 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):1486-1486 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):1410-1410 2012(Dec.)
Author:中村 勝哉; 関島 良樹; 永松 清志郎; 吉田 邦広; 池田 修一


新規TITF-1遺伝子変異を認めた良性家族性舞踏病(BHC)の家系の臨床的および分子生物学的検討
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,6th 2012
Author:中村勝哉; 関島良樹; 永松清志郎; 吉田邦広; 池田修一


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):1236-1236 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):683-683 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


悪性症候群の経過中に可逆性の心機能障害を来した1例
第129回日本内科学会信越地方会 2011(Nov. 05)
Author:片野 優子; 吉長 恒明; 堀内 直樹; 中村 勝哉; 兼子 一真; 吉田 拓弘


IgG4関連疾患の経過中に悪性リンパ腫を来した1剖検例
第128回日本内科学会信越地方会 2011(Jun. 25)
Author:中村 勝哉; 吉長 恒明; 佐藤 充人; 宮崎 大吾; 福島 和広; 原; 栄志; 上原 剛; 池田 修一


p.E66Q Mutation in the GLA Gene Is an Important Genetic Risk Factor for Stroke in Elderly Japanese Men
The 63th American Academy of Neurology Annual Meeting 2011(Apr.)
Author:Katsuya Nakamura; Yoshiki Sekijima; Kimitoshi Nakamura; Kiyoko Hattori; Fumio Endo; Kiyoshiro Nagamatsu; Yusaku Shimizu; Shu-ichi Ikeda


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):58-58 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):1176-1176 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):1146-1146 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):1090-1090 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


αガラクトシダーゼ遺伝子p.E66Q変異は日本人男性における脳梗塞の重要な遺伝的危険因子である
日本人類遺伝学会大会プログラム・抄録集,55th 2010
Author:関島良樹; 中村勝哉; 中村公俊; 服部希世子; 永松清志郎; 清水雄策; 櫻井晃洋; 池田修一; 遠藤文夫; 福嶋義光


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):1121-1121 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):1114-1114 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):1042-1042 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


限局性骨髄腫の検索中に末梢神経障害が出現した Crow-Fukase症候群の72歳男性例
第125回日本内科学会信越地方会 2009(Oct. 31)
Author:加藤 修明; 吉長 恒明; 中村 勝哉; 下島 恭弘; 森田 洋; 松田 正之; 池田 修一


急速に多手指壊死を示した難治性古典的多発動脈周囲炎の75歳女性例
第125回日本内科学会信越地方会 2009(Oct. 31)
Author:吉長 恒明; 中村 勝哉; 下島 恭弘; 浅野 功治; 高梨 哲生; 池田 修一


外傷の誘因なく発症したComplex regional pain syndromeの2例
第124回日本内科学会信越地方会 2009(Jun. 06)
Author:永松 清志郎; 中村 勝哉; 下島 恭弘; 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):138-138 2009(Mar.)
Author:中村 勝哉; 内藤 康介; 石井 亘; 吉田 邦広; 池田 修一


運動失調症の病態解明と治療法開発に関する研究 運動失調症に関する調査研究 脊髄小脳失調症6型(SCA6)に対するガバペンチン療法
運動失調症の病態解明と治療法開発に関する研究班 平成20年度 総括・分担研究報告書 2009
Author:吉田邦広; 中村勝哉; 宮崎大吾; 森田洋; 池田修一


運動失調症の病態解明と治療法開発に関する研究 運動失調症に関する調査研究 常染色体劣性遺伝性脊髄小脳変性症9家系10例の臨床的・分子遺伝学的検討
運動失調症の病態解明と治療法開発に関する研究班 平成20年度 総括・分担研究報告書 2009
Author:吉田邦広; 中村勝哉; 森田洋; 池田修一; 牧下英夫; 大原慎司; 牛山雅夫; 露崎淳; 清水雄策; 堺温哉; 松本直通


脳出血をきたしたFabry病患者3例の臨床・生化学・分子生物学的検討
日本人類遺伝学会大会プログラム・抄録集,54th 2009
Author:関島良樹; 関島良樹; 中村勝哉; 中村公俊; 服部希世子; 遠藤文夫; 清水雄策; 牛山雅夫; 池田修一; 古庄知己; 櫻井晃洋; 涌井敬子; 福嶋義光


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):1120-1120 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):1086-1086 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.):168-168 2008(Feb.)
Author:中村 勝哉; 吉田 邦広; 宮崎 大吾; 森田 洋; 池田 修一


運動失調症に関する調査研究班 16番染色体長腕(16q22.1)に連鎖する優性遺伝性脊髄小脳変性症(16q-ADCA)の臨床的・分子遺伝学的検討
運動失調症に関する調査研究班 平成19年度 総括・分担研究報告書 2008
Author:吉田邦広; 堺温哉; 大畑尚子; 松本直通; 清水雄策; 中村勝哉; 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 2008
Author:中村勝哉; 吉田邦広; 宮崎大吾; 森田洋; 池田修一


気道粘膜の広範な肥厚、顎下腺腫脹、左腎腫瘍を認めたIgG4関連疾患の一例
第121回日本内科学会信越地方会 2007(Nov. 24)
Author:岸田 大; 中村 勝哉; 加藤 修明; 田澤 浩一; 石井 亘; 松田 正之; 池田 修一


多彩な脳神経症状で発症し、確定診断に腎生検が有用であったintravascular large B cell lymphomaの1例
第121回日本内科学会信越地方会 2007(Nov. 24)
Author:柳川 貴雄; 田澤 浩一; 大野 晃一; 岸田 大; 中村 勝哉; 加藤 修明; 石井 亘; 矢崎 正英; 松田 正之; 池田 修一


著明な好酸球増多により深部静脈血栓症と多発単神経炎を来たした1例
第120回日本内科学会信越地方会 2007(Jun. 02)
Author:中村 勝哉; 星; 研一; 牧下 英夫; 吉田 哲矢; 石原 八州; 篠原 直宏; 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):590-590 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):514-514 2006(Jul.)
Author:中村 勝哉; 星 研一; 牧下 英夫; 塚原 隆司; 池田 修一


インフルエンザウイルス(A型)感染を契機にhemorrhagic shock and encephalopathy(HSE)様の病態を呈した成人症例
日本救急医学会雑誌,15(9):429-429 2004(Sep.)
Author:古澤 徳彦; 今村 浩; 関口 幸夫; 浦山 弘明; 岩下 具美; 福井 大祐; 和田 典子; 伊藤 哲也; 才田 謙; 中村 勝哉; 村中 太

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