Ontology highlight
ABSTRACT:
SUBMITTER: Merner ND
PROVIDER: S-EPMC3415547 | biostudies-literature | 2012 Aug
REPOSITORIES: biostudies-literature
Merner Nancy D ND Girard Simon L SL Catoire Hélène H Bourassa Cynthia V CV Belzil Véronique V VV Rivière Jean-Baptiste JB Hince Pascale P Levert Annie A Dionne-Laporte Alexandre A Spiegelman Dan D Noreau Anne A Diab Sabrina S Szuto Anna A Fournier Hélène H Raelson John J Belouchi Majid M Panisset Michel M Cossette Patrick P Dupré Nicolas N Bernard Geneviève G Chouinard Sylvain S Dion Patrick A PA Rouleau Guy A GA
American journal of human genetics 20120802 2
Essential tremor (ET) is a common neurodegenerative disorder that is characterized by a postural or motion tremor. Despite a strong genetic basis, a gene with rare pathogenic mutations that cause ET has not yet been reported. We used exome sequencing to implement a simple approach to control for misdiagnosis of ET, as well as phenocopies involving sporadic and senile ET cases. We studied a large ET-affected family and identified a FUS p.Gln290(∗) mutation as the cause of ET in this family. Furth ...[more]