title: Adult-onset Alexander disease with progressive ataxia and palatal tremor.
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.
authors.affiliation: Department of Neurology, University of Colorado at Denver Health Sciences Center, Denver, Colorado 80262, USA. Katherine.Howard@UCHSC.edu
authors.forename: Katherine L
authors.initials: KL
authors.lastname: Howard
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Hall
authors.forename: Michelle
authors.initials: M
authors.lastname: Moon
authors.forename: Pinky
authors.initials: P
authors.lastname: Agarwal
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Newman
authors.forename: Michael
authors.initials: M
authors.lastname: Brenner
mesh_terms: D038261:Alexander Disease / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D001259:Ataxia / Q000150:complications*; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology*; D003072:Cognition Disorders / Q000175:diagnosis; D018450:Disease Progression; D005838:Genotype; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D010160:Palate, Soft / Q000503:physiopathology*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D011149:Pons / Q000473:pathology; D014202:Tremor / Q000150:complications* / Q000503:physiopathology*
chemical_list: D005904:Glial Fibrillary Acidic Protein