Adult‐onset Alexander disease with progressive ataxia and palatal tremor
Copyright policy )Adult‐onset Alexander disease with progressive ataxia and palatal tremor
AbstractA 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
- University of Alabama at Birmingham United States
- University of Colorado Denver United States
- University of Colorado System United States
- Alabama Agricultural and Mechanical University United States
Male, Genotype, Brain, Middle Aged, Neuropsychological Tests, Polymerase Chain Reaction, Phenotype, Pons, Glial Fibrillary Acidic Protein, Tremor, Disease Progression, Humans, Point Mutation, Ataxia, Alexander Disease, Atrophy, Palate, Soft, Cognition Disorders
Male, Genotype, Brain, Middle Aged, Neuropsychological Tests, Polymerase Chain Reaction, Phenotype, Pons, Glial Fibrillary Acidic Protein, Tremor, Disease Progression, Humans, Point Mutation, Ataxia, Alexander Disease, Atrophy, Palate, Soft, Cognition Disorders
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