Breaking News: Mutations in ATXN2 increase the risk of amyotrophic lateral sclerosis

Abstract

CAG repeat expansions in the ataxin-2 gene (ATXN2) cause spinocerebellar ataxia type 2, and could have a role in amyotrophic lateral sclerosis (ALS). Through haplotyping and DNA sequencing in an ALS pedigree, Laffita-Mesa et al.de novoCAG expansions in ATXN2 alleles in three patients with autosomal dominant ALS.

Nature Reviews Neurology 2013