首页> Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology> Spinocerebellar ataxia type 2 followed by amyotrophic lateral sclerosis due to a pure CAG repeat expansion in ATXN2: a case report and literature review.

Spinocerebellar ataxia type 2 followed by amyotrophic lateral sclerosis due to a pure CAG repeat expansion in ATXN2: a case report and literature review.

导出 LinkOut

翻译打印收藏纠错

第一作者： Shohei,Ono

第一单位： Department of Neurology, Kansai Medical University, 2-5-1, Shinmachi, Hirakata, Osaka, 573-1010, Japan.

作者： Shohei,Ono ^[1] ; Masataka,Nakamura ^[2] ; Takeshi,Ikegami ^[3] ; Yuta,Kajiyama ^[3] ; Kodai,Kume ^[4] ; Yuji,Takahashi ^[5] ; Makio,Takahashi ^[6] ; Hideki,Mochizuki ^[3] ; Hidehiro,Mizusawa ^[5] ; Hideshi,Kawakami ^[4] ; Yusuke,Yakushiji ^[1]

作者单位： Department of Neurology, Kansai Medical University, 2-5-1, Shinmachi, Hirakata, Osaka, 573-1010, Japan. ^[1] Department of Neurology, Kansai Medical University, 2-5-1, Shinmachi, Hirakata, Osaka, 573-1010, Japan. nakamuma@hirakata.kmu.ac.jp. ^[2] Department of Neurology, Graduate School of Medicine, The University of Osaka, Yamadaoka 2-2, Suita, Osaka, 565-0871, Japan. ^[3] Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3, Kasumi, Minami-Ku, Hiroshima, 734-8553, Japan. ^[4] Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8551, Japan. ^[5] Department of Neurodegenerative Disorders, Kansai Medical University, 2-5-1, Shinmachi, Hirakata, Osaka, 573-1010, Japan. ^[6]

关键词 ALS Ataxin-2 CAA interruption CAG repeat expansion SCA2

医学主题词人类(Humans);中年人(Middle Aged);肌萎缩侧索硬化(Amyotrophic Lateral Sclerosis);女(雌)性(Female);脊髓小脑共济失调(Spinocerebellar Ataxias);三核苷酸重复扩增(Trinucleotide Repeat Expansion);磁共振成像(Magnetic Resonance Imaging)

DOI 10.1007/s10072-025-08332-2

PMID 40581671

发布时间 2025-12-04

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交