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

Movement Disorders : Official Journal of the Movement Disorder Society
Dominic ThyagarajanMichael Brenner

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.

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Related Concepts

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Alexander Disease

Alexander disease is a rare leukodystrophy caused by mutations in the astrocyte-specific intermediate filament protein glial fibrillary acidic protein (GFAP). Here is the latest research on this disease.

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