Article
De novo mutations in ataxin-2 gene and ALS risk.
PloS one - 1 Jan 2013
Laffita-Mesa José Miguel, Rodríguez Pupo Jorge Michel, Moreno Sera Raciel, Vázquez Mojena Yaimee, Kourí Vivian, Laguna-Salvia Leonides, Martínez-Godales Michael, Valdevila Figueira José A, Bauer Peter O, Rodríguez-Labrada Roberto, González Zaldívar Yanetza, Paucar Martin, Svenningsson Per, Velázquez Pérez Luís
Abstract excerpt
Pathogenic CAG repeat expansion in the ataxin-2 gene (ATXN2) is the genetic cause of spinocerebellar ataxia type 2 (SCA2). Recently, it has been associated with Parkinsonism and increased genetic risk for amyotrophic lateral sclerosis (ALS). Here we report the association of de novo mutations in ATXN2 with autosomal dominant ALS. These findings support our previous conjectures based on population studies on the...
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