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Adult-onset Alexander disease with progressive ataxia and palatal tremor.

Howard K.L., Hall D.A., Moon M., Agarwal P., Newman E., Brenner M.

A novel glial fibrillary acidic protein (GFAP) mutation, Y257C, is reported in a patient with adult-onset Alexander disease. This is the oldest reported case with confirmation of a GFAP mutation. Onset was late in the sixth decade. Genetic analysis of the GFAP gene is recommended in cases of progressive ataxia and palatal tremor.

Mov. Disord. 23:118-122(2008) [PubMed] [Europe PMC]

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