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SCIENTIFIC LITERATURE · MED

Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson's disease and Lewy Body Dementia cohorts.

NPJ Parkinsons Dis · 2025-11-27

DOI: 10.1038/s41531-025-01188-5PMID: 41310328

Open accessbrief-report; Journal ArticleOriginal source ↗

Research overview

The text below is the source article’s original abstract under a verified reuse license. cc by

Repeat expansions (REs) may be Parkinson's disease (PD) risk factors. We screened whole genome sequencing data from the AMP PD Lewy Body Dementia (LBD) and PD cohorts for 37 REs associated with neurological disorders, and identified both interrupted and uninterrupted REs in ATXN2 in 4/2431 PD and 2/2468 LBD cases, but none in controls. These findings support pleiotropy for certain REs in PD.

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