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Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion

7 Dec 2020

Abstract excerpt

Spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS) share a common molecular basis: both are associated with CAG-repeat expansion of ATXN2 and TDP-43-positive neuronal cytoplasmic inclusions. To date, the two disorders are viewed as clinically distinct with ALS resulting from 30-33 CAG-repeats and SCA2 from >34 CAG-repeats. We describe a 67-year old with a 32 CAG-repeat expansion of ATXN2...

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PMID: 33284045
DOI: 10.1080/21678421.2020.1853172

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