Kodai Kume

Profile Information

Affiliation: Hiroshima University

Degree: PhD(Kagawa University)

Contact information: kumekhiroshima-u.ac.jp
Researcher number: 20592314
ORCID iD: https://orcid.org/0000-0001-9266-2543
J-GLOBAL ID: 201901017336268830
researchmap Member ID: B000369123

External link: https://epidem.hiroshima-u.ac.jp/

Neurogenetics, Neurology

Research Interests

Research Areas

Research History

Apr, 2021 - Present

Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University
Apr, 2020 - Mar, 2021

Faculty of Medicine, Kagawa University
Apr, 2019 - Mar, 2020

Research Institute for Radiation Biology and Medicine, Hiroshima University
Apr, 2018 - Mar, 2019

Research Institute for Radiation Biology and Medicine, Hiroshima University
Jun, 2014 - Mar, 2018

Faculty of Medicine, Kagawa University
Apr, 2010 - May, 2014

Faculty of Medicine, Kagawa University
Apr, 2008 - Mar, 2010

University Hospital, Faculty of Medicine, Kagawa University

Education

Apr, 2012 - Jun, 2017

Kagawa University
Apr, 2002 - Mar, 2008

School of Medicine, Faculty of Medicine, Kagawa University

Major Papers

Cholesterol ensures ciliary polycystin-2 localization to prevent polycystic kidney disease

Takeshi Itabashi, Kosuke Hosoba, Tomoka Morita, Sotai Kimura, Kenji Yamaoka, Moe Hirosawa, Daigo Kobayashi, Hiroko Kishi, Kodai Kume, Hiroshi Itoh …

Life Science Alliance, Apr, 2025 Peer-reviewed
Optineurin knock-out forms TDP-43 aggregates to regulate TDP-43 protein levels despite autophagic up-regulation and aberrant TDP-43 expression.

Yuta Maetani, Takashi Kurashige, Yui Tada, Kodai Kume, Tomoaki Watanabe, Yusuke Sotomaru, Koji Yamanaka, Hirofumi Maruyama, Hideshi Kawakami

Neuroscience Research, Mar, 2025 Peer-reviewed
C9orf72 repeat expansions in Wakayama: One potential cause of amyotrophic lateral sclerosis in the Kii Peninsula, Japan.

Seiji Emori, Kodai Kume, Yoshiaki Nakayama, Hidefumi Ito, Hideshi Kawakami

Journal of the neurological sciences, 466 123209-123209, Sep 1, 2024 Peer-reviewedCorresponding author
‘Raisin bread sign’ feature of pontine autosomal dominant microangiopathy and leukoencephalopathy

Mai Kikumoto, Takashi Kurashige, Tomohiko Ohshita, Kodai Kume, Osamu Kikumoto, Tomohisa Nezu, Shiro Aoki, Kazuhide Ochi, Hiroyuki Morino, Eiichi Nomura …

Brain Communications, Nov 1, 2023 Peer-reviewed
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.

Kodai Kume, Takashi Kurashige, Keiko Muguruma, Hiroyuki Morino, Yui Tada, Mai Kikumoto, Tatsuo Miyamoto, Silvia Natsuko Akutsu, Yukiko Matsuda, Shinya Matsuura …

American journal of human genetics, 110(7) 1086-1097, Jul 6, 2023 Peer-reviewedLead author
Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient

Rie Saito, Yui Tada, Daisuke Oikawa, Yusuke Sato, Makiko Seto, Akira Satoh, Kodai Kume, Nozomi Ueki, Masahiro Nakashima, Shintaro Hayashi …

Acta Neuropathologica Communications, 10(1), Dec 7, 2022 Peer-reviewed
Comparison of two families with and without ataxia harboring novel variants in PRKCG.

Yui Tada, Kodai Kume, Soma Noguchi, Tomoko Sekiya, Kazuto Nishinaka, Hiroshi Ishiguchi, Jinsoo Koh, Seiji Emori, Yoshiaki Nakayama, Takashi Kurashige …

Journal of human genetics, 67(10) 595-599, Jun 28, 2022 Peer-reviewedCorresponding author
Novel monoallelic variant in ERLIN2 causes spastic paraplegia converted to amyotrophic lateral sclerosis.

Kodai Kume, Masaki Kamada, Yoshimitsu Shimatani, Tadayuki Takata, Yuishin Izumi, Hideshi Kawakami

Journal of the neurological sciences, 430 119984-119984, Nov 15, 2021 Peer-reviewedLead authorCorresponding author
FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report.

Megumi Toko, Tomohiko Ohshita, Takashi Kurashige, Hiroyuki Morino, Kodai Kume, Hiroshi Yamashita, Gen Sobue, Yasushi Iwasaki, Jun Sone, Hideshi Kawakami …

BMC neurology, 21(1) 396-396, Oct 12, 2021 Peer-reviewed
Analysis of genetic risk factors in Japanese patients with Parkinson's disease.

Yuhei Kanaya, Kodai Kume, Hiroyuki Morino, Ryosuke Ohsawa, Takashi Kurashige, Masaki Kamada, Tsuyoshi Torii, Yuishin Izumi, Hirofumi Maruyama, Hideshi Kawakami

Journal of human genetics, 66(10) 957-964, Mar 19, 2021 Peer-reviewed
Long-term MRI findings of adult-onset neuronal intranuclear inclusion disease.

Kisaki Tachi, Tadayuki Takata, Kodai Kume, Jun Sone, Hideki Kobara, Kazushi Deguchi, Hideshi Kawakami, Tsutomu Masaki

Clinical neurology and neurosurgery, 201 106456-106456, Feb, 2021 Peer-reviewed
The first Japanese case of primary familial brain calcification caused by an MYORG variant.

Kodai Kume, Tadayuki Takata, Hiroyuki Morino, Yukiko Matsuda, Ryosuke Ohsawa, Yui Tada, Takashi Kurashige, Hideshi Kawakami

Journal of human genetics, 65(10) 917-920, Oct, 2020 Peer-reviewedLead authorCorresponding author
Aggressive periodontitis and NOD2 variants.

Noriyoshi Mizuno, Kodai Kume, Yukiko Nagatani, Shinji Matsuda, Tomoyuki Iwata, Kazuhisa Ouhara, Mikihito Kajiya, Katsuhiro Takeda, Yukiko Matsuda, Yui Tada …

Journal of human genetics, 65(10) 841-846, Oct, 2020 Peer-reviewed
Optineurin regulates osteoblastogenesis through STAT1.

Noriyoshi Mizuno, Tomoyuki Iwata, Ryosuke Ohsawa, Kazuhisa Ouhara, Shinji Matsuda, Mikihito Kajiya, Yukiko Matsuda, Kodai Kume, Yui Tada, Hiroyuki Morino …

Biochemical and biophysical research communications, 525(4) 889-894, May 14, 2020 Peer-reviewed
Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia.

Yui Tada, Kodai Kume, Yukiko Matsuda, Takashi Kurashige, Yuhei Kanaya, Ryosuke Ohsawa, Hiroyuki Morino, Hayato Tabu, Satoshi Kaneko, Toshihiko Suenaga …

Journal of human genetics, 65(4) 363-369, Apr, 2020 Peer-reviewed
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.

Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami

BMC medical genetics, 21(1) 68-68, Mar 31, 2020 Peer-reviewedLead author
Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia.

Yukiko Matsuda, Hiroyuki Morino, Ryosuke Miyamoto, Takashi Kurashige, Kodai Kume, Noriyoshi Mizuno, Yuhei Kanaya, Yui Tada, Ryosuke Ohsawa, Kazunori Yokota …

Neurology. Genetics, 6(1) e396, Feb, 2020 Peer-reviewed
Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation.

Takashi Kurashige, Hiroyuki Morino, Yukiko Matsuda, Tomoya Mukai, Tomomi Murao, Megumi Toko, Kodai Kume, Ryosuke Ohsawa, Tsuyoshi Torii, Hiroshi Tokinobu …

Journal of neurology, neurosurgery, and psychiatry, 91(2) 220-222, Feb, 2020 Peer-reviewed
Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report

Koji Fujita, Tomoyasu Matsubara, Ryosuke Miyamoto, Hiroyuki Sumikura, Toshiaki Takeuchi, Keiko Maruyama Saladini, Toshitaka Kawarai, Hiroyuki Nodera, Fukashi Udaka, Kodai Kume …

BMC Neurology, 19(1) 168, Dec, 2019 Peer-reviewed
C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8.

Kodai Kume, Hiroyuki Morino, Osamu Komure, Yukiko Matsuda, Ryosuke Ohsawa, Takashi Kurashige, Yuhei Kanaya, Yui Tada, Hideshi Kawakami

Journal of the neurological sciences, 402 118-120, Jul 15, 2019 Peer-reviewedLead author
Three cases of non-carryover fingolimod-PML: Is the risk in Japan increased?

Jin Nakahara, Laura Tomaske, Kodai Kume, Tadayuki Takata, Masaki Kamada, Kazushi Deguchi, Kenji Kufukihara, Ruth Schneider, Ralf Gold, Ilya Ayzenberg

Neurology(R) neuroimmunology & neuroinflammation, 6(3) e559, May, 2019 Peer-reviewedLead author
Clinical significance of assaying anti-MOG antibody in cerebrospinal fluid in MOG-antibody-associated diseases: A case report.

Shingo Aoe, Kodai Kume, Tadayuki Takata, Tetsuo Touge, Kimihiko Kaneko, Ichiro Nakashima, Kazushi Deguchi, Tsutomu Masaki

Multiple sclerosis and related disorders, 28 165-166, Feb, 2019 Peer-reviewed
Subacute Sensorimotor Neuropathy Accompanied by Anti-ganglioside GM1 Antibody in a Patient with Lung Cancer.

Kanaji N, Kume K, Mizoguchi H, Inoue T, Watanabe N, Nishiyama N, Kadowaki N, Ishii T

Internal medicine (Tokyo, Japan), 57(22) 3289-3292, Nov, 2018 Peer-reviewed
Serum microRNA expression profiling in patients with multiple system atrophy.

Kodai Kume, Hisakazu Iwama, Kazushi Deguchi, Kazuyo Ikeda, Tadayuki Takata, Yohei Kokudo, Masaki Kamada, Keiko Fujikawa, Kayo Hirose, Hisashi Masugata …

Molecular medicine reports, 17(1) 852-860, Jan, 2018 Peer-reviewedLead author
Effects of transcranial magnetic brain stimulation with the maximum voluntary muscle contraction (TMS with MVC) on cognitive and motor function in normal subjects

Kodai Kume

Journal of the Neurological Sciences, 2017
Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Accompanied by Prolonged Vasoconstriction.

Tadayuki Takata, Kodai Kume, Yohei Kokudo, Kazuyo Ikeda, Masaki Kamada, Tetsuo Touge, Kazushi Deguchi, Tsutomu Masaki

Internal medicine (Tokyo, Japan), 56(6) 713-717, 2017 Peer-reviewed
Dialysis-induced Subdural Hematoma in an Arachnoid Cyst Associated with Autosomal Dominant Polycystic Kidney Disease.

Tadayuki Takata, Yohei Kokudo, Kodai Kume, Kazuyo Ikeda, Masaki Kamada, Tetsuo Touge, Kazushi Deguchi, Tsutomu Masaki

Internal medicine (Tokyo, Japan), 55(15) 2065-7, 2016 Peer-reviewed
Neuromyelitis optica spectrum disorder presenting with repeated hypersomnia due to involvement of the hypothalamus and hypothalamus-amygdala linkage.

Kodai Kume, Kazushi Deguchi, Kazuyo Ikeda, Tadayuki Takata, Yohei Kokudo, Masaki Kamada, Tetsuo Touge, Toshiyuki Takahashi, Takashi Kanbayashi, Tsutomu Masaki

Multiple sclerosis (Houndmills, Basingstoke, England), 21(7) 960-2, Jun, 2015 Peer-reviewedLead author
Significance of the hot-cross bun sign on T2*-weighted MRI for the diagnosis of multiple system atrophy.

Kazushi Deguchi, Kazuyo Ikeda, Kodai Kume, Tadayuki Takata, Yohei Kokudo, Masaki Kamada, Tetsuo Touge, Naomi Honjo, Tsutomu Masaki

Journal of neurology, 262(6) 1433-9, Jun, 2015 Peer-reviewed
Unilateral mydriatic tonic pupil as an early isolated symptom of neurosyphilis.

Tadayuki Takata, Masaki Kamada, Kazuyo Ikeda, Kodai Kume, Yohei Kokudo, Tetsuo Touge, Kazushi Deguchi, Tsutomu Masaki

Journal of the neurological sciences, 344(1-2) 219-20, Sep 15, 2014 Peer-reviewed
Usefulness of the modified F-ratio for assessments of proximal conduction in chronic inflammatory demyelinating polyneuropathy superimposed on Charcot Marie-Tooth disease type 1A.

Kodai Kume, Kazushi Deguchi, Kazuyo Ikeda, Tadayuki Takata, Yohei Kokudo, Masaki Kamada, Masago Tsukaguchi, Tetsuo Touge, Tsutomu Masaki

Journal of the neurological sciences, 343(1-2) 237-9, Aug 15, 2014 Peer-reviewedLead author
Advantage of C-11-methionine positron emission tomography for assessing IgG4-related central nervous system lesions

Kodai Kume, Kazuyo Ikeda, Kazushi Deguchi, Masaki Kamada, Masaki Okada, Takashi Tamiya, Tetsuo Touge, Tsutomu Masaki

JOURNAL OF NEUROLOGY, 261(3) 625-627, Mar, 2014 Peer-reviewedLead author
Nitric oxide-mediated modulation of calcium/calmodulin-dependent protein kinase II.

Tao Song, Naoya Hatano, Toshie Kambe, Yoshiaki Miyamoto, Hideshi Ihara, Hideyuki Yamamoto, Katsuyoshi Sugimoto, Kodai Kume, Fuminori Yamaguchi, Masaaki Tokuda …

The Biochemical journal, 412(2) 223-31, Jun 1, 2008 Peer-reviewed
p90 RSK-1 associates with and inhibits neuronal nitric oxide synthase.

Tao Song, Katsuyoshi Sugimoto, Hideshi Ihara, Akihiro Mizutani, Naoya Hatano, Kodai Kume, Toshie Kambe, Fuminori Yamaguchi, Masaaki Tokuda, Yasuo Watanabe

The Biochemical journal, 401(2) 391-8, Jan 15, 2007 Peer-reviewed
Inhibition of neuronal nitric-oxide synthase by phosphorylation at Threonine1296 in NG108-15 neuronal cells.

Tao Song, Naoya Hatano, Kodai Kume, Katsuyoshi Sugimoto, Fuminori Yamaguchi, Masaaki Tokuda, Yasuo Watanabe

FEBS letters, 579(25) 5658-62, Oct 24, 2005 Peer-reviewed

Misc.

121

CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis(タイトル和訳中)

Kume Kodai, Kurashige Takashi, Muguruma Keiko, Morino Hiroyuki, Kikumoto Mai, Nakamori Masahiro, Nishiyama Ayumi, Koizumi Rumiko, Ogasawara Masashi, Eura Nobuyuki …

臨床神経学, 64(Suppl.) S256-S256, Oct, 2024
The new causative gene for ALS and myopathy(タイトル和訳中)

Kawakami Hideshi, Kume Kodai, Kurashige Takashi, Muguruma Keiko

臨床神経学, 64(Suppl.) S52-S52, Oct, 2024
紀伊半島南部に多発するALSに関して,C9orf72変異例の検討研究

江守誠司, 久米広大, 中山宜昭, 川上秀史, 伊東秀文

臨床神経学, 64(Suppl.) S347-S347, Oct, 2024
広島原爆被爆者における市街地近傍からの早期入市による死亡リスク 1970-2015(The mortality of A-bomb survivors who entered the vicinity of the hypocenter from a suburb of Hiroshima city during the first three days: 1970-2015)

廣田誠子, 吉永信治, 久米広大, 川上秀史

日本放射線影響学会大会講演要旨集, 67回 214-214, Sep, 2024
Gordon Holmes症候群とSCA17-DI Huntington-like disorder患者2例の病理学的特徴(Gordon Holmes syndrome and SCA17-DI: pathologic fatures of 2 patients with Huntington-like disorder)

Saito Rie, Tada Yui, Oikawa Daisuke, Sato Yusuke, Iwanaga Keisuke, Satoh Akira, Seto Makiko, Kume Kodai, Ueki Nozomu, Nakashima Masahiro …

臨床神経学, 63(Suppl.) S345-S345, Sep, 2023
和歌山県におけるTARDBP遺伝子N352S変異ALSの集積

中山宜昭, 池本明由実, 堀昂平, 丹羽麻也子, 小上修平, 南野麻衣, 松本拓也, 樽谷潤子, 高橋麻衣子, 阪田麻友美 …

臨床神経学, 63(Suppl.) S272-S272, Sep, 2023
エクソーム解析にて診断がついた4症例

鎌田正紀, 高田忠幸, 久米広大, 川上秀史

臨床神経学, 63(Suppl.) S298-S298, Sep, 2023
DNAメチル化を利用したリピート病の新規治療法の開発

久米広大

先進医薬研究振興財団研究成果報告集, 2022年度 78-79, Mar, 2023
広島の入市被爆者におけるがん死亡、1970-2015(Cancer mortality among a-bomb survivors who entered Hiroshima city during the first 2 weeks after the bombing: 1970-2015)

廣田誠子, 吉永信治, 久米広大, 川上秀史

日本放射線影響学会大会講演要旨集, 65回 206-206, Sep, 2022
アミロイド前駆体蛋白質遺伝子の変異を認めた若年性アルツハイマー病の1例

鎌田正紀, 久米広大, 川上秀史

日本早期認知症学会誌, 15(1) 58-58, Aug, 2022
日本における悪性高熱症の遺伝子スクリーニングと臨床症状比較(Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan)

Kanzaki Rieko, Morino Hiroyuki, Mukaida Keiko, Kume Kodai, Ohsawa Ryosuke, Noda Yuko, Otsuki Sachiko, Miyoshi Hirotsugu, Kondo Takashi, Nakamura Ryuji …

Hiroshima Journal of Medical Sciences, 71(1-2) 31-38, Jun, 2022
Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathyの特異的画像所見であるレーズンパン徴候の診断的意義

菊本舞, 菊本舞, 倉重毅志, 大下智彦, 大下智彦, 久米広大, 祢津智久, 青木志郎, 越智一秀, 森野豊之 …

日本神経化学会大会抄録集(Web), 65th, 2022
遺伝性筋萎縮性側索硬化症の新規原因遺伝子の同定

久米広大

上原記念生命科学財団研究報告集, 34 1-4, Dec, 2020
CFAP410変異型の常染色体劣性筋萎縮性側索硬化症の一家族(A family of autosomal recessive amyotrophic lateral sclerosis with CFAP410 variant)

Kurashige Takashi, Morino Hiroyuki, Matsuda Yukiko, Mukai Tomoya, Murao Tomomi, Toko Megumi, Kume Kodai, Ohsawa Ryosuke, Torii Tsuyoshi, Tokinobu Hiroshi …

臨床神経学, 60(Suppl.) S323-S323, Nov, 2020
常染色体優性脊髄小脳失調症におけるカリウムチャネルの変異の遺伝学的スクリーニング(Genetic screening for potassium channel mutations in autosomal dominant spinocerebellar ataxia)

Morino Hiroyuki, Tada Yui, Kume Kodai, Matsuda Yukiko, Kurashige Takashi, Kanaya Yuhei, Tabu Hayato, Kaneko Satoshi, Suenaga Toshihiko, Kakizuka Akira …

臨床神経学, 60(Suppl.) S468-S468, Nov, 2020
次世代シークエンサを用いたパーキンソン病関連遺伝子の検索

金谷雄平, 多田有似, 久米広大, 大澤亮介, 森野豊之, 川上秀史

臨床神経学, 60(Suppl.) S427-S427, Nov, 2020
多彩な神経症状を呈した抗CASPR2抗体関連疾患の1例

土居智和, 野中和香子, 高田忠幸, 青江真吾, 久米広大, 川北梨愛, 鎌田正紀, 出口一志, 峠哲男, 正木勉

日本老年医学会雑誌, 56(4) 569-569, Oct, 2019
併存する非代償性肝硬変に対して肝移植が行われた視神経脊髄炎関連疾患(NMOSD)の治療経験

高田忠幸, 坂本鉄平, 久米広大, 八木孝仁, 阿部康二, 出口一志, 峠哲男, 正木勉

神経治療学, 36(6) S287-S287, Oct, 2019
病診連携ブレインバンク生前同意登録に基づく認知症剖検例CPC 覚醒時の歯軋りが著明であった前頭側頭型認知症の1例

鎌田正紀, 松原知康, 土居智和, 川北梨愛, 青江真吾, 野中和香子, 國土曜平, 高田忠幸, 久米広大, 串田吉生

Dementia Japan, 33(4) 508-508, Oct, 2019
併存する非代償性肝硬変に対して肝移植が行われた視神経脊髄炎関連疾患(NMOSD)の治療経験

高田忠幸, 坂本鉄平, 久米広大, 八木孝仁, 阿部康二, 出口一志, 峠哲男, 正木勉

神経治療学(Web), 36(6), 2019

Major Books and Other Publications

論文に出る遺伝子 : デルジーン300 : PubMed論文の登場回数順にヒト遺伝子のエッセンスを一望

坊農, 秀雅 (Role: Contributor)

羊土社, Dec, 2024 (ISBN: 9784758122771)

Major Professional Memberships

Major Research Projects

遺伝性筋萎縮性側索硬化症の新規原因遺伝子の同定

2018年度研究奨励金, 上原記念生命科学医財団
筋萎縮性側索硬化症の新規原因遺伝子のスクリーニングおよび機能解析

第4回「せりか基金賞」, 一般社団法人せりか基金
多系統萎縮症の原因遺伝子の同定

2021年度研究奨励金, 上原記念生命科学財団
Development of a novel therapy using DNA methylation for repeat diseases

SENSHIN Medical Research Foundation
ロングリードシーケンサーを用いた筋萎縮性側索硬化症の新規原因遺伝子の探索

公益信託宮田幸比古記念ＡＬＳ研究助成基金
LRP12のリピート不安定性とDNAメチル化に関与する遺伝子の探索

2024年度医学系研究助成, 武田科学振興財団
遺伝性筋萎縮性側索硬化症の新規原因遺伝子の同定

科学研究費助成事業若手研究, 若手研究, 日本学術振興会, Apr, 2020 - Mar, 2022

久米広大
新規リピート伸長による筋萎縮性側索硬化症の分子病態の解明

科学研究費助成事業若手研究, 若手研究, 日本学術振興会, Apr, 2023 - Mar, 2025

久米広大

Academic Activities

Human genome variation

Peer review

2024
Heliyon

Peer review

2024
Heliyon

Peer review

2023
Annals of Clinical and Translational Neurology

Peer review

2023
Experimental and Therapeutic Medicine

Peer review

2021
Molecular Medicine Reports

Peer review

2021
Brain and Development

Peer review

2021
BMC Neurology

Peer review

2020

Profile Information

Research Interests

Research Areas

Research History

Education

Major Papers

Misc.

Major Books and Other Publications

Major Professional Memberships

Major Research Projects

Academic Activities

Menu

Coauthors