Updated on 2025/06/19
ミトコンドリア病
脊髄小脳変性症
遺伝性ニューロパチー
シャルコー・マリー・トゥース病（Charcot-Marie-Tooth disease: CMT）
2020.4 Kagoshima University Medical and Dental Hospital, Medical and Dental Sciences Area Medical and Dental Hospital Clinical Center Neurology Disease Center Assistant Professor
2020.4 日本神経治療学会
Ando M, Higuchi Y, Yuan J-H, Yoshimura A, Yano C, Hobara T, Kojima F, Hiramatsu Y, Nozuma S, Nakamura T, Sakiyama Y, Hashiguchi A, Okamoto Y, Matsushige T, Mitsui J, Tsuji S, Takashima H . SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights . Journal of Neurology272 ( 3 ) 191 2025.2
Takahiro Hobara, Yujiro Higuchi, Mari Yoshida, Masahito Suehara, Masahiro Ando, Jun-Hui Yuan, Akiko Yoshimura, Fumikazu Kojima, Eiji Matsuura, Yuji Okamoto, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima . Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications . Acta Neuropathologica Communications23 ( 12 ) 2024.8Reviewed
Fumikazu Kojima, Yuji Okamoto, Masahiro Ando, Yujiro Higuchi, Takahiro Hobara, Junhui Yuan, Akiko Yoshimura, Akihiro Hashiguchi, Eiji Matsuura, Hiroshi Takashima . A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review . Neurogenetics25 ( 2 ) 149 - 156 2024.4Reviewed
Yujiro Higuchi, Masahiro Ando, Fumikazu Kojima, Junhui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Yu Hiramatsu, Satoshi Nozuma, Shinobu Fukumura, Hiroyuki Yahikozawa, Erika Abe, Itaru Toyoshima, Masashiro Sugawara, Yuji Okamoto, Eiji Matsuura, Hiroshi Takashima . Dystonia and Parkinsonism in COA7‑related disorders: expanding the phenotypic spectrum. . Journal of Neurology 2023.9
Yujiro Higuchi . Genetic research of inherited peripheral neuropathies . Neurol Clin Neurosci 2023.8
Yujiro Higuchi and Hiroshi Takashima . Clinical genetics of Charcot-Marie-Tooth disease . J Hum Genet 2023.3
Yujiro Higuchi, Masahiro Ando, Akiko Yoshimura, Satoshi Hakotani, Yuki Koba, Yusuke Sakiyama, Yu Hiramatsu, Yuichi Tashiro, Yoshimitsu Maki, Akihiro Hashiguchi, Junhui Yuan, Yuji Okamoto, Eiji Matsuura, Hiroshi Takashima . Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan . Cerebellum 2021.9Reviewed
Yujiro Higuchi, Hiroshi Takashima . Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy . BRAIN 2018.6Reviewed
Yujiro Higuchi, Hiroshi Takashima . Mutations in MME Cause an Autosomal-Recessive Charcot–Marie–Tooth Disease Type 2 . 2016.8Reviewed
Yano C, Matsuura E, Nakamura T, Sonoda A, Shigehisa A, Ando M, Nozuma S, Higuchi Y, Sakiyama Y, Hashiguchi A, Michizono K, Takashima H . Visual evoked potential in myelin oligodendrocyte glycoprotein antibody-associated disease . Multiple Sclerosis and Related Disorders98 106408 2025.6Reviewed
Hobara T, Ando M, Higuchi Y, Yuan J-H, Yoshimura A, Kojima F, Noguchi Y, Takei J, Hiramatsu Y, Nozuma S, Nakamura T, Adachi T, Toyooka K, Yamashita T, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Takashima H . Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy . Journal of Neurology, Neurosurgery, and Psychiatry96 ( 2 ) 140 - 149 2025.1Reviewed
Ando M, Higuchi Y, Yuan J, Yoshimura A, Kojima F, Yamanishi Y, Aso Y, Izumi K, Imada M, Maki Y, Nakagawa H, Hobara T, Noguchi Y, Takei J, Hiramatsu Y, Nozuma S, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Takashima H . Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan . Annals of Clinical and Translational Neurology11 ( 1 ) 96 - 104 2024Reviewed
日本神経学会賞 (学術研究部門)
2022.5 日本神経学会 遺伝性ニューロパチーの遺伝学的研究
第324回日本内科学会九州地方会 指導医賞
2019.1
第25回日本末梢神経学会学術集会 最優秀賞受賞
2014.8 Charcot-Marie-Tooth病306例のExome解析による網羅的遺伝子診断
Stroke Genetics－南九州地域における脳血管疾患の包括的ゲノム解析と臨床疫学
2025.4 - 2026.3
鹿児島大学 鹿児島大学めぐみ会医学研究振興基金支援プロジェクト
Authorship：Principal investigator
脊髄小脳変性症の臨床疫学と新規原因遺伝子の同定
Grant number：22K07519 2022.4 - 2025.3
科学研究費助成事業（科研費） 日本学術振興会 科学研究費補助金
Authorship：Principal investigator
我が国で発見された遺伝性ニューロパチーの新規原因遺伝子から探る病態機序の解明
Grant number：20K16604 2020.4 - 2022.3
科学研究費補助金 若手研究(B)
Charcot-Marie-Tooth病の新規原因遺伝子から探る病態機序の解明
2020.4 - 2021.3
鹿児島県医師会 鹿児島県医師会医学研究助成
Authorship：Principal investigator
Charcot-Marie-Tooth病の治療を見据えた分子遺伝学的研究
2021.4 - 2024.3
科学研究費助成事業 科学研究費助成事業 基盤研究(B) 基盤研究(B)
Authorship：Coinvestigator(s) Grant type：Competitive
シャルコー・マリー・トゥース病とミトコンドリア病モデルショウジョウバエの開発と病態解析
2020.4 - 2021.3
京都工芸繊維大学昆虫先端研究推進拠点 共同研究
Authorship：Coinvestigator(s)
