De Novo Mutations in Ataxin-2 Gene and ALS Risk

摘要: Pathogenic CAG repeat expansion in the ataxin-2 gene (ATXN2) is genetic cause of spinocerebellar ataxia type 2 (SCA2). Recently, it has been associated with Parkinsonism and increased risk for amyotrophic lateral sclerosis (ALS). Here we report association de novo mutations ATXN2 autosomal dominant ALS. These findings support our previous conjectures based on population studies role large normal alleles as source new being involved neurodegenerative pathologies expansions. The expanded from ALS/SCA2 non-risk proven by meta-analysis method. ALS was SCA2 well intermediate lengths ATXN2. Higher pathogenic revealed meta-analysis.