A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family

被引:13
作者
Matsuyama, Z [1 ]
Murase, M
Shimizu, H
Aoki, Y
Hayashi, M
Hozumi, I
Inuzuka, T
机构
[1] Gifu Univ, Sch Med, Dept Neurol & Geriatr, Gifu 5008705, Japan
[2] Gifu Univ, Sch Med, Dept Internal Med 1, Gifu 5008705, Japan
基金
日本学术振兴会;
关键词
episodic ataxia type 2 (EA-2); a Japanese family; gene analysis; acetazolamide;
D O I
10.1016/S0022-510X(03)00008-X
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We report a Japanese family with acetazolamide-responsive episodic ataxia. The proband was a 41-year-old woman with interictal nystagmus. She experienced recurrent attacks of loss of equilibrium and loss of coordination of the extremities accompanied by dysarthria and nausea beginning at about 10 years old. These episodes usually lasted for several hours two or three times a week. Direct sequence of CACNA1A demonstrated a novel insertion mutation in the patient and her father. This mutation is estimated to cause early stop of the gene transcription, producing a truncated protein. This is the first report of episodic ataxia type 2 of which the mutation was identified in a Japanese family. (C) 2003 Elsevier Science B.V. All rights reserved.
引用
收藏
页码:91 / 93
页数:3
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