Adult-onset Alexander disease with progressive ataxia and palatal tremor.
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.
Howard
Katherine L
KL
Department of Neurology, University of Colorado at Denver Health Sciences Center, Denver, Colorado 80262, USA. Katherine.Howard@UCHSC.edu
Hall
Deborah A
DA
Moon
Michelle
M
Agarwal
Pinky
P
Newman
Elizabeth
E
Brenner
Michael
M
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*
D005904:Glial Fibrillary Acidic Protein