| Literature DB >> 23660545 |
Peter Hedera1, Thomas L Davis, Fenna T Phibbs, P David Charles, Mark S LeDoux.
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.Entities:
Keywords: Autosomal dominant; Essential tremor; FUS; Mutation
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Year: 2013 PMID: 23660545 DOI: 10.1016/j.parkreldis.2013.04.009
Source DB: PubMed Journal: Parkinsonism Relat Disord ISSN: 1353-8020 Impact factor: 4.891