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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:2020/10/21

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
所属学会
所属学会
日本内科学会
日本神経学会
日本人類遺伝学会
日本脳卒中学会
日本認知症学会
日本パーキンソン病・運動障害疾患学会
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
2013- , 信州大学医学部附属病院遺伝子診療部 講師

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)
論文
A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene
Internal Medicine 2020(Jul. 01)
Author:Ken Takasone, Teruya Morizumi, Katsuya Nakamura, Yusuke Mochizuki, Tsuneaki Yoshinaga, Shingo Koyama, Yoshiki Sekijima


Intrafamilial phenotypic variation in spinocerebellar ataxia type 23
Cerebellum & Ataxias,7(7) 2020(Jun. 23)
Author:Shunichi Satoh, Yasufumi Kondo, Shinji Ohara, Tomomi Yamaguchi, Katsuya Nakamura, Kunihiro Yoshida


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. 10)
Author:中村 勝哉


Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen
Journal of the Neurological Sciences,415:116901 2020(May 17)
Author:Morizumi, Teruya; Ueno, Akihiro; Takasone, Ken; Ozawa, Kazuki; Yoshinaga, Tsuneaki; Nakamura, Katsuya; Sekijima, Yoshiki


Antibody Therapy Targeting RAN Proteins Rescues C9 ALS/FTD Phenotypes in C9orf72 Mouse Model
NEURON,105(4):645-662 2020(Feb. 19)
Author:Nguyen, Lien; Montrasio, Fabio; Pattamatta, Amrutha; Tusi, Solaleh Khoramian; Bardhi, Olgert; Meyer, Kevin D.; Hayes, Lindsey; Nakamura, Katsuya; Banez-Coronel, Monica; Coyne, Alyssa; Guo, Shu; Laboissonniere, Lauren A.; Gu, Yuanzheng; Narayanan, Saravanakumar; Smith, Benjamin; Nitsch, Roger M.; Kankel, Mark W.; Rushe, Mia; Rothstein, Jeffrey; Zu, Tao; Grimm, Jan; Ranum, Laura P. W.;


A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia.
Journal of the Neurological Sciences,399:214-216 2019(Apr. 15)
Author:YukaOgawa, 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:Yoshida, Kunihiro; Kuwabara, Satoshi; Nakamura, Katsuya; Abe, Ryuta; Matsushima, Akira; Beppu, Minako; Yamanaka, Yoshitaka; Takahashi, Yuji; Sasaki, Hidenao; Mizusawa, Hidehiro; Res Grp Ataxic Disorders;


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:Yoshinaga T, Nakamura K, Ishikawa M, Yamaguchi T, Takano K, Wakui K, Kosho T, Yoshida K, Fukushima Y, Sekijima Y


Prevalence of Fabry disease and GLA c. 196G > C variant in Japanese stroke patients
JOURNAL OF HUMAN GENETICS,62(7):665-670 2017(Jul.)
Author:Nagamatsu, Kiyoshiro; Sekijima, Yoshiki; Nakamura, Katsuya; Nakamura, Kimitoshi; Hattori, Kiyoko; Ota, Masao; Shimizu, Yusaku; Endo, Fumio; Ikeda, Shu-ichi;


Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study
CEREBELLUM,16(2):518-524 2017(Apr.)
Author:Nakamura, Katsuya; Yoshida, Kunihiro; Matsushima, Akira; Shimizu, Yusaku; Sato, Shunichi; Yahikozawa, Hiroyuki; Ohara, Shinji; Yazawa, Masanobu; Ushiyama, Masao; Sato, Mitsuto; Morita, Hiroshi; Inoue, Atsushi; Ikeda, Shu-ichi;


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:Shimazaki, Haruo; Honda, Junko; Naoi, Tametou; Namekawa, Michito; Nakano, Imaharu; Yazaki, Masahide; Nakamura, Katsuya; Yoshida, Kunihiro; Ikeda, Shu-ichi; Ishiura, Hiroyuki; Fukuda, Yoko; Takahashi, Yuji; Goto, Jun; Tsuji, Shoji; Takiyama, Yoshihisa;


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:Nakamura, K; Sekijima, Y; Nakamura, K; Hattori, K; Nagamatsu, K; Shimizu, Y; Yazaki, M; Sakurai, A; Endo, F; Fukushima, Y; Ikeda, SI


学会発表
Clinical features of KIF1A-Related Disorders: A Japanese patient with a novel missense variant and literature review
American Society of Human Genetics , The ASHG 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


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 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.)
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


脊髄小脳失調症31型の自然史
第56回日本神経学会 2015(May)
Author: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.)
Author: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.)
Author:Nakamura Katsuya, Sekijima Yoshiki, Nakamura Kimitoshi, Hattori Kiyoko, Endo Fumio, Nagamatsu Kiyoshiro, Shimizu Yusaku, Ikeda Shu-ichi

教育活動実績

授業等
ユニット講義神経
臨床遺伝学
人類遺伝学特論
臨床実習指導(内科学第三、遺伝子医療研究センター)