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

✍ Scribed by Dominic Thyagarajan; Timothy Chataway; Rong Li; Wei Ping Gai; Michael Brenner


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
530 KB
Volume
19
Category
Article
ISSN
0885-3185

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✦ Synopsis


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. © 2004 Movement Disorder Society