De novo mutations in ataxin-2 gene and ALS risk.

De novo mutations in ataxin-2 gene and ALS risk.

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 ATX...

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Bibliographic Details
Main Authors: José Miguel Laffita-Mesa, Jorge Michel Rodríguez Pupo, Raciel Moreno Sera, Yaimee Vázquez Mojena, Vivian Kourí, Leonides Laguna-Salvia, Michael Martínez-Godales, José A Valdevila Figueira, Peter O Bauer, Roberto Rodríguez-Labrada, Yanetza González Zaldívar, Martin Paucar, Per Svenningsson, Luís Velázquez Pérez
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3735591?pdf=render

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http://europepmc.org/articles/PMC3735591?pdf=render

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