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

作者：Longfei Wang, Michael Milton, Liam G. Fearnley, Oneil G. Bhalala, Melanie Bahlo, Haloom Rafehi · 发表于：npj Parkinson s Disease · 年份：2025 · DOI：10.1038/s41531-025-01188-5 · 被引用次数：3 · 研究领域：Parkinson's Disease Mechanisms and Treatments、Genetic Neurodegenerative Diseases、Amyotrophic Lateral Sclerosis Research

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.