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Amyotrophic Lateral Sclerosis Risk for Spinocerebellar Ataxia Type 2 ATXN2 CAG Repeat Alleles

6 Oct 2014

Abstract excerpt

IMPORTANCE: Repeats of CAG in the ataxin 2 gene (ATXN2) in the long-normal range (sometimes referred to as intermediate) have been identified as modifiers of amyotrophic lateral sclerosis (ALS) risk. Prior studies have used thresholding considering various cutoffs for ATXN2 repeat length. OBJECTIVE: To calculate association between ATXN2 CAG repeat alleles and increased risk of ALS across multiple ethnic groups....

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PMID: 25285812
DOI: 10.1001/jamaneurol.2014.2082

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