Kagoshima University · Graduate School of Medical and Dental Sciences

Research keywordshereditary neuropathy・Charcot-Marie-Tooth disease・periodic paralysis・copy number variation・neuromuscular genetics・gene panel testing・Fragile X syndrome・molecular diagnosis

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• 新山 修平, 平松 有, 中條 正典, 馬場 敬太, 久保 祐輝, 佐藤 満仁, 垣花 泰之2024 · 記述言語： 日本語 出版者・発行元： (一社)日本救急医学会
• 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： 日本語 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
• Yuan J.H., Higuchi Y., Hashiguchi A., Ando M., Yoshimura A., Nakamura T., Hiramatsu Y., Sakiyama Y., Takashima H. . Gene panel analysis of 119 index patients with suspected periodic paralysis2023 · 記述言語： 日本語 掲載種別： 研究論文（学術雑誌） 出版者・発行元： Frontiers in Neurology Introduction: Genetic factors are recognized as the major reason for patients with periodic paralysis. The goal of this study was to determine the genetic causes of periodic paralysis in Japan. Methods: We obtained a Japanese nationwide case series of 119 index patients (108 men and 11 women) clinically suspected of periodic paralysis, and a gene panel analysis, targeting CACNA1S, SCN4A, and KCNJ2 genes, was conducted. Results: From 34 cases, 25 pathogenic/likely pathogenic/unknown significance variants were detected in CACNA1S (nine cases), SCN4A (19 cases), or KCNJ2 (six cases), generating a molecular diagnostic rate of 28.6%. In total, seven variants have yet been found linked to periodic paralysis previously. The diagnostic yield of patients with hypokalemic and hyperkalemic periodic paralyzes was 26.2 (17/65) and 32.7% (17/52), respectively. A considerably higher yield was procured from patients with than without positive family history (18/25 vs. 16/94), onset age ≤20 years (24/57 vs. 9/59), or recurrent paralytic attacks (31/94 vs. 3/25). Discussion: The low molecular diagnostic rate and specific genetic proportion of the present study highlight the etiological complexity of patients with periodic paralysis in Japan. DOI： 10.3389/fneur.2023.1078195 Scopus PubMed
• ミトコンドリア病診療マニュアル20232023 · 2023年6月

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