Article

An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2

2024-12-25

Abstract excerpt

<title>Abstract</title> Spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS) are both associated with a CAG-repeat expansion in <italic>ATXN2</italic> and with TDP-43-positive neuronal cytoplasmic inclusions. The two disorders have been viewed as distinct entities, where an intermediate length expansion of 31–33 CAG-repeats is associated with sporadic ALS and a full length expansion of...

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Literature Corpus work: a10a9ca2-6ffa-5443-ab0a-e85d0d03a506
DOI: 10.21203/rs.3.rs-5419198/v1

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