Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene

被引：36
|
作者：
Thyagarajan, D [1 ]
Chataway, T
Li, R
Ping, W
Gai, WP
Brenner, M
机构：
[1] Flinders Med Ctr, Dept Neurol, Bedford Pk, SA 5045, Australia
[2] Flinders Univ S Australia, Bedford Pk, SA 5042, Australia
[3] Univ Alabama, Dept Neurobiol, Birmingham, AL USA
[4] Univ Alabama, Civitan Int Res Ctr, Birmingham, AL USA
来源：
MOVEMENT DISORDERS | 2004年 / 19卷 / 10期
关键词：
Alexander disease; GFAP; leukodystrophy; palatal tremor;
D O I：
10.1002/mds.20161
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report on a pedigree of dominantly-inherited, adult-onset Alexander disease caused by the glial fibrillary acidic protein (GFAP) gene mutation, R416W. This pedigree highlights the importance of genetic analysis of the GFAP gene in leukodystrophy with palatal tremor. (C) 2004 Movement Disorder Society.
引用
收藏
页码：1244 / 1248
页数：5
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