Article

Dissecting the relationship between haplotypes around ATXN2 CAG repeats and the number of CAA interruptions by long-read sequencing

2026-03-12

Abstract excerpt

<h4>Background</h4> CAG repeat expansions in ATXN2 are implicated as risk factors for several neurological diseases, including spinocerebellar ataxia type 2 (SCA2) when >=33 CAG repeats are present, and amyotrophic lateral sclerosis (ALS) when 27-33 CAG repeats are present. However, how haplotypes around the repeats and CAA interruptions within the repeats are associated with disease phenotypes remains poorly und...

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Literature Corpus work: 60fe008c-02f1-5319-bc74-779b7d9e1f38
DOI: 10.64898/2026.03.11.26348169

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