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Dominantly‐inherited adult‐onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene
Author(s) -
Thyagarajan Dominic,
Chataway Timothy,
Li Rong,
Gai Wei Ping,
Brenner Michael
Publication year - 2004
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20161
Subject(s) - leukodystrophy , glial fibrillary acidic protein , mutation , degenerative disease , biology , genetics , gene , central nervous system disease , pathology , medicine , disease , neuroscience , immunohistochemistry
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