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A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation

✍ Scribed by Takashi Kinoshita; Toshihiro Imaizumi; Yumiko Miura; Hiroshi Fujimoto; Mitsuyoshi Ayabe; Hiroshi Shoji; Yuji Okamoto; Hiroshi Takashima; Mitsuhiro Osame; Masanori Nakagawa


Book ID
117474238
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
201 KB
Volume
350
Category
Article
ISSN
0304-3940

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Dominantly-inherited adult-onset leukody
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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