title: FUS in familial essential tremor - the search for common causes is still on.
abstract: The genetic etiology of essential tremor remains unknown despite the significant proportion of familial cases. The search for monogenic causes has repeatedly failed until recent identification of three disease-causing mutations in FUS (fused in sarcoma), a gene previously linked to a rare forms of familial amyotrophic lateral sclerosis with frontotemporal dementia. The genetic epidemiology of FUS in ET is unknown. Herein, we screened 104 patients from 52 pedigrees for mutations in the coding sequence of FUS. Two of the most genetically distant affected individuals from each pedigree were selected for Sanger sequencing to potentially increase the success of genetic analysis. We did not identify a single pathogenic mutation. Our data suggest that FUS mutations are a rare cause of familial ET.
authors: Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232-8552, USA. peter.hedera@vanderbilt.edu
authors: Peter
authors: P
authors: Hedera
authors: Thomas L
authors: TL
authors: Davis
authors: Fenna T
authors: FT
authors: Phibbs
authors: P David
authors: PD
authors: Charles
authors: Mark S
authors: MS
authors: LeDoux
mesh_terms: D000368:Aged; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D034702:RNA-Binding Protein FUS / Q000235:genetics*
chemical_list: D034702:RNA-Binding Protein FUS
keywords: Autosomal dominant; Essential tremor; FUS; Mutation