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Article

ATXN2‐AS , a gene antisense to ATXN2 , is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis

17 Aug 2016

Abstract excerpt

OBJECTIVE: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by a CAG repeat expansion in the gene ataxin-2 (ATXN2). ATXN2 intermediate-length CAG expansions were identified as a risk factor for amyotrophic lateral sclerosis (ALS). The ATXN2 CAG repeat is translated into polyglutamine, and SCA2 pathogenesis has been thought to derive from ATXN2 protein containing an expanded polyglutamine...

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PMID: 27531668
DOI: 10.1002/ana.24761

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