Abstract
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.
2007 Movement Disorder Society
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
MeSH terms
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Alexander Disease / complications*
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Alexander Disease / genetics
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Alexander Disease / pathology*
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Ataxia / complications*
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Atrophy / pathology
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Brain / pathology*
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Cognition Disorders / diagnosis
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Disease Progression
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Genotype
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Glial Fibrillary Acidic Protein / genetics
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Humans
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Male
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Middle Aged
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Neuropsychological Tests
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Palate, Soft / physiopathology*
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Phenotype
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Point Mutation / genetics
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Polymerase Chain Reaction
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Pons / pathology
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Tremor / complications*
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Tremor / physiopathology*
Substances
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Glial Fibrillary Acidic Protein