Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene.
We report on a pedigree of dominantly-inherited, adult-onset Alexander disease caused by the glial fibrillary acidic protein (GFAP) gene mutation, R416W. This pedigree highlights the importance of genetic analysis of the GFAP gene in leukodystrophy with palatal tremor.
Thyagarajan
Dominic
D
Department of Neurology, Flinders Medical Centre and Flinders University, South Australia, Australia. dominic.thyagarajan@flinders.edu.au
Chataway
Timothy
T
Li
Rong
R
Gai
Wei Ping
WP
Brenner
Michael
M
D000328:Adult; D038261:Alexander Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D001921:Brain / Q000473:pathology; D005260:Female; D015870:Gene Expression / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics*; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D010160:Palate, Soft / Q000503:physiopathology*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014202:Tremor / Q000150:complications* / Q000503:physiopathology*
D005904:Glial Fibrillary Acidic Protein