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Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement

✍ Scribed by Wada, Yuko; Yanagihara, Chie; Nishimura, Yo; Namekawa, Michito


Book ID
122213212
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
412 KB
Volume
331
Category
Article
ISSN
0022-510X

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## 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. Β© 2004 Movement D