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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:09/21/2021

Profile

Assigned Class
Department of Medicine (Neurology & Rheumatology)
Department of Neurology
Research Field
Neurogenetics
Neurology
Clinical Genetics
Keywords:Neurogenetics , Genetic Counseling , Aataxia
Academic Societies
Academic Societies
Fellow of the Japanese Society of Internal Medicine
Fellow of Japanese Society of Neurology
Board Certified Member of the Japan Society of Human Genetics
Board Certified Member of the Japan Stroke Society
Japan Society for Dementia Research
Movement Disorder Society of Japan
Academic Background
Degree
PhD. , Shinshu University
Research Career
Research Career
2018- , Senior Assistant Professor, Shinshu University Center for Medical Genetics
2013- , Senior Assistant Professor, Shinshu University Division of Clinical and Molecular Genetics

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

Research

Books, Articles, etc.
Articles
Late-onset Hereditary ATTR Amyloidosis with a Novel p.P63S (P43S) Transthyretin Variant
Internal Medicine,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


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


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;


Inter-generational instability of inserted repeats during transmission in spinocerebellar ataxia type 31
Journal of Human Genetics,62(10):923-925 2017
Author:Kunihiro Yoshida, Akira Matsushima, Katsuya Nakamura


Hypertrophic Pachymeningitis as an Early Manifestation of Relapsing Polychondritis: Case Report and Review of the Literature
Case Reports in Neurology,8:211 2016(Sep.)
Author:Ushiyama S, Kinoshita T, Shimojima Y, Ohashi N, Kishida D, Miyazaki D, Nakamura K, Sekijima Y, Ikeda S


Clinical assessment of standing and gait in ataxic patients using a triaxial accelerometer.
Cerebellum Ataxias.,2(9) 2015(Aug. 06)
Author:Matsushima A, Yoshida K, Genno H, Murata A, Matsuzawa S, Nakamura K, Nakamura A, Ikeda S.


A Case Report of WEBINO Syndrome with Convergence Impairment
Journal of Neurology & Neurophysiology,6(270) 2015(Feb. 24)
Author:Yoshinaga, Tsuneaki; Nakamura, Katsuya; Kaneko, Kazuma; Nakamura, Akinori


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


TRIPLE A SYNDROME IN JAPAN
MUSCLE & NERVE,48(3):381-386 2013(Sep.)
Author:Ikeda, Masanori; Hirano, Makito; Shinoda, Keiich; Katsumata, Noriyuki; Furutama, Daisuke; Nakamura, Katsuya; Ikeda, Shu-Ichi; Tanaka, Toshifumi; Hanafusa, Toshiaki; Kitajima, Hiroyuki; Kohno, Hitoshi; Nakagawa, Mizuho; Nakamura, Yusaku; Ueno, Satoshi;


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 2013(Jan. 01)
Author:Sekijima Y, Nakamura K, Kishida D, Narita A, Adachi K, Ohno K, Nanba E, Ikeda S.


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
Author:Nakamura, Katsuya; Sekijima, Yoshiki; Nagamatsu, Kiyoshiro; Yoshida, Kunihiro; Ikeda, Shu-ichi;


Cerebral hemorrhage in Fabry's disease
JOURNAL OF HUMAN GENETICS,55(4):259-261 2010(Apr.)
Author:Nakamura, Katsuya; Sekijima, Yoshiki; Nakamura, Kimitoshi; Hattori, Kiyoko; Nagamatsu, Kiyoshiro; Shimizu, Yusaku; Yasude, Takuji; Ushiyama, Masao; Endo, Fumio; Fukushima, Yoshimitsu; Ikeda, Shu-ichi;


Adult or late-onset triple A syndrome Case report and literature review
JOURNAL OF THE NEUROLOGICAL SCIENCES,297(1-2):85-88 2010
Author:Nakamura, Katsuya; Yoshida, Kunihiro; Yoshinaga, Tsuneaki; Kodaira, Minori; Shimojima, Yasuhiro; Takei, Yo-ichi; Morita, Hiroshi; Kayanuma, Katsuhiko; Ikeda, Shu-ichi;


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:Nakamura, Katsuya; Yoshida, Kunihiro; Makishita, Hideo; Kitamura, Eiko; Hashimoto, Shiori; Ikeda, Shu-ichi;


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:Yoshida, Kunihiro; Shimizu, Yusaku; Morita, Hiroshi; Okano, Tomomi; Sakai, Haruya; Ohata, Takako; Matsumoto, Naomichi; Nakamura, Katsuya; Tazawa, Ko-ichi; Ohara, Shinji; Tabata, Kenichi; Inoue, Atsushi; Sato, Shunichi; Shimojima, Yasuhiro; Hattori, Takeshi; Ushiyama, Masao; Ikeda, Shu-ichi;


Spinocerebellar ataxia type 6 (SCA6): Clinical pilot trial with gabapentin
JOURNAL OF THE NEUROLOGICAL SCIENCES,278(1-2):107-111 2009(Mar.)
Author:Nakamura, Katsuya; Yoshida, Kunihiro; Miyazaki, Daigo; Morita, Hiroshi; Ikeda, Shu-ichi;


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

Education

Lectures
Clinical Neurology
Medical Genetics