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Expanded <i>ATXN2</i> CAG repeat size in ALS identifies genetic overlap between ALS and SCA2

12 May 2011

Abstract excerpt

OBJECTIVES: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of motor neurons that results in progressive muscle weakness and limits survival to 2-5 years after disease onset. Intermediate CAG repeat expansions in ataxin 2 (ATXN2), the causative gene of spinocerebellar ataxia type 2 (SCA2), have been implicated in sporadic ALS. We studied ATXN2 in a large cohort of patients with sporadic and...

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PMID: 21562247
DOI: 10.1212/wnl.0b013e31821f445b

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