Ontology highlight
ABSTRACT:
SUBMITTER: Laffita-Mesa JM
PROVIDER: S-EPMC3735591 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
PloS one 20130806 8
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 ...[more]