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Mov Disord. 2004 Oct;19(10):1244-8.

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

Author information

1
Department of Neurology, Flinders Medical Centre and Flinders University, South Australia, Australia. dominic.thyagarajan@flinders.edu.au

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.

PMID:
15390001
DOI:
10.1002/mds.20161
[Indexed for MEDLINE]

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