José Miguel Laffita‐Mesa, Jorge Michel Rodríguez Pupo, Raciel Moreno Sera, Yaimeé Vázquez Mojena, Vivian Kourí, Leonides Laguna-Salvia, Michael Martínez-Godales, José A. Valdevila Figueira, Peter Bauer, Roberto Rodríguez‐Labrada, Yanetza González Zaldívar, Martin Paucar, Per Svenningsson, Luis Velázquez‐Pérez,
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 role of large normal ATXN2 alleles as the source for new mutations being involved in neurodegenerative ...
Tópico(s): Mitochondrial Function and Pathology
2013 - Public Library of Science | PLoS ONE