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Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism

15 Feb 2023

Abstract excerpt

Abstract Background CAG‐repeat expansions in Ataxin 2 (ATXN2) are known to cause spinocerebellar ataxia type 2 (SCA2), but CAA interrupted expansions may also result in autosomal dominant Parkinson's disease (AD PD). However, because of technical limitations, such expansions are not explored in whole exome sequencing (WES) data. Objectives To identify ATXN2 expansions using WES data from PD cases. Methods We...

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PMID: 37070044
DOI: 10.1002/mdc3.13699

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