title: Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene.
abstract: 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.
authors.affiliation: Department of Neurology, Flinders Medical Centre and Flinders University, South Australia, Australia. dominic.thyagarajan@flinders.edu.au
authors.forename: Dominic
authors.initials: D
authors.lastname: Thyagarajan
authors.forename: Timothy
authors.initials: T
authors.lastname: Chataway
authors.forename: Rong
authors.initials: R
authors.lastname: Li
authors.forename: Wei Ping
authors.initials: WP
authors.lastname: Gai
authors.forename: Michael
authors.initials: M
authors.lastname: Brenner
mesh_terms: 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*
chemical_list: D005904:Glial Fibrillary Acidic Protein