Article
Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans.
Neurobiology of aging - 1 Oct 2013
Ortega-Cubero S, Lorenzo-Betancor O, Lorenzo E, Alonso E, Coria F, Pastor M A, Fernández-Santiago R, Martí M J, Ezquerra M, Valldeoriola F, Compta Y, Tolosa E, Agundez J A, Jiménez-Jiménez F J, Gironell A, Clarimon J, de Castro P, García-Martín E, Alonso-Navarro H, Pastor P
Abstract excerpt
FUS/TLS (denoting fused in sarcoma/translocated in liposarcoma [MIM 137070]) codifies an RNA binding protein. Mutations in this gene cause amyotrophic lateral sclerosis (ALS; MIM 608030). Essential tremor (ET [MIM 190300]) is the most frequent movement disorder. Despite its strong familiar aggregation, recently a whole exome sequencing study has identified FUS mutations as a cause of familial ET. To determine...
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