Kagoshima University · Institute of Medical and Dental Sciences, Division of Human Retrovirology · 助教

Research keywordsHTLV-1・HTLV-1-associated myelopathy・tropical spastic paraparesis・cellular immune response・host restriction factors・genome-wide association・cerebrospinal fluid antibodies・molecular subtypes・neurovirology

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• 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 oligodend2025 · 記述言語： 英語 掲載種別： 研究論文（学術雑誌） 出版者・発行元： Multiple Sclerosis and Related Disorders The visual evoked potential (VEP) patterns of optic neuritis are known to often differ between multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) but have been less reported in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). This study aimed to characterize the VEP pattern in MOGAD and evaluate its utility in distinguishing MOGAD from MS and NMOSD. We retrospectively reviewed the clinical manifestations and VEP findings in patients with MS (n = 29), NMOSD (n = 14), and MOGAD (n = 10). In eyes with acute visual impairment, VEP responses were detectable in 100 % of eyes with MOGAD, a striking difference from MS (72.7 %) and NMOSD (57.1 %). In addition, VEP abnormalities in eyes without acute visual impairment were rare in MOGAD (23.1 %) compared to MS (55.3 %) and NMOSD (42.9 %). Our results indicated that subclinical VEP abnormalities or undetectable VEP responses were less common in patients with MOGAD compared to patients with MS and NMOSD. VEP testing demonstrates potential diagnostic utility in distinguishing among these conditions. DOI： 10.1016/j.msard.2025.106408 Scopus PubMed
• 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., Matsuur2024 · 記述言語： 英語 掲載種別： 研究論文（学術雑誌） 出版者・発行元： Journal of Neurology, Neurosurgery and Psychiatry Background: The causative genes for over 60% of inherited peripheral neuropathy (IPN) remain unidentified. This study endeavours to enhance the genetic diagnostic rate in IPN cases by conducting screenings focused on non-coding repeat expansions. Methods: We gathered data from 2424 unrelated Japanese patients diagnosed with IPN, among whom 1555 cases with unidentified genetic causes, as determined through comprehensive prescreening analyses, were selected for the study. Screening for CGG non-coding repeat expansions in LRP12, GIPC1 and RILPL1 genes was conducted using PCR and long-read sequencing technologies. Results: We identified CGG repeat expansions in LRP12 from 44 cases, establishing it as the fourth most common aetiology in Japanese IPN. Most cases (29/37) exhibited distal limb weakness, without ptosis, ophthalmoplegia, facial muscle weakness or bulbar palsy. Neurogenic changes were frequently observed in both needle electromyography (97%) and skeletal muscle tissue (100%). In nerve conduction studies, 28 cases primarily showed impairment in motor nerves without concurrent involvement of sensory nerves, consistent with the phenotype of hereditary motor neuropathy. In seven cases, both motor and sensory nerves were affected, resembling the Charcot-Marie-Tooth (CMT) phenotype. Importantly, the mean CGG repeat number detected in the present patients was significantly shorter than that of patients with LRP12-oculopharyngodistal myopathy (p<0.0001). Additionally, GIPC1 and RILPL1 repeat expansions were absent in our IPN cases. Conclusion: We initially elucidate LRP12 repeat expansions as a prevalent cause of CMT, highlighting the necessity for an adapted screening strategy in clinical practice, particularly when addressing patients with IPN. DOI： 10.1136/jnnp-2024-333403 Scopus PubMed
• Nozuma Satoshi, Yuji-Takeuchi Mika, Nakamura Tomonori, Saigo Ryuji, Masuda Mirai, Ando Masahiro, Sakiyama Yusuke, Miyata Ryo, Tabata Kazuhiro, Matsuura Eiji, Takashima Hiroshi2023 · 担当区分： 筆頭著者, 責任著者 記述言語： 英語 掲載種別： 研究論文（学術雑誌） 出版者・発行元： (一社)日本神経免疫学会
• Ando M., Higuchi Y., Yuan J.H., Yoshimura A., Dozono M., Hobara T., Kojima F., Noguchi Y., Takeuchi M., Takei J., Hiramatsu Y., Nozuma S., Nakamura T., Sakiyama Y., Hashiguchi A., Matsuura E., Okamoto2022 · 記述言語： 英語 掲載種別： 研究論文（学術雑誌） 出版者・発行元： Journal of Neurology, Neurosurgery and Psychiatry Background: NOTCH2NLC GGC repeat expansions have been associated with various neurogenerative disorders, including neuronal intranuclear inclusion disease and inherited peripheral neuropathies (IPNs). However, only a few NOTCH2NLC-related disease studies in IPN have been reported, and the clinical and genetic spectra remain unclear. Thus, this study aimed to describe the clinical and genetic manifestations of NOTCH2NLC-related IPNs. Method: Among 2692 Japanese patients clinically diagnosed with IPN/Charcot-Marie-Tooth disease (CMT), we analysed NOTCH2NLC repeat expansion in 1783 unrelated patients without a genetic diagnosis. Screening and repeat size determination of NOTCH2NLC repeat expansion were performed using repeat-primed PCR and fluorescence amplicon length analysis-PCR. Results: NOTCH2NLC repeat expansions were identified in 26 cases of IPN/CMT from 22 unrelated families. The mean median motor nerve conduction velocity was 41 m/s (range, 30.8-59.4), and 18 cases (69%) were classified as intermediate CMT. The mean age of onset was 32.7 (range, 7-61) years. In addition to motor sensory neuropathy symptoms, dysautonomia and involuntary movements were common (44% and 29%). Furthermore, the correlation between the age of onset or clinical symptoms and the repeat size remains unclear. Conclusions: These findings of this study help us understand the clinical heterogeneity of NOTCH2NLC-related disease, such as non-length-dependent motor dominant phenotype and prominent autonomic involvement. This study also emphasise the importance of genetic screening, regardless of the age of onset and type of CMT, particularly in patients of Asian origin, presenting with intermediate conduction velocities and dysautonomia. DOI： 10.1136/jnnp-2022-330769 Scopus PubMed

• TCRレパトア解析によるHAMの診断および病勢指標となるバイオマーカーの探索2020 · HAMはHTLV-1ウイルスに感染したTリンパ球の増殖とそれに対する特異的な免疫反応が病態の中心である。近年TCRレパトア研究が癌、免疫、感 染症領域で進められ、細胞性免疫の評価やウイルス抗原特異的T細胞の同定に利用されている。本研究では感染細胞を標的にHAMに特異的なTCR クローン型を同定することで、診断のバイオマーカーとなることが期待される。また個々の患者において疾患活動度と関連する特異的なTCRレ パトアを決定することで病勢の予測や治療介入時の指標に利用でき、テーラーメード医療への応用が可能となると考える。

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