由胶质纤维酸性蛋白基因突变引起的伴有腭震颤的显性遗传成人起病性脑白质营养不良。

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

作者信息

Thyagarajan Dominic, Chataway Timothy, Li Rong, Gai Wei Ping, Brenner Michael

机构信息

Department of Neurology, Flinders Medical Centre and Flinders University, South Australia, Australia.

出版信息

Mov Disord. 2004 Oct;19(10):1244-8. doi: 10.1002/mds.20161.

DOI:10.1002/mds.20161

PMID:15390001

Abstract

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.

摘要

我们报告了一个由胶质纤维酸性蛋白（GFAP）基因突变R416W引起的显性遗传成人型亚历山大病的家系。该家系凸显了对伴有腭震颤的脑白质营养不良进行GFAP基因遗传分析的重要性。