Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson's disease cohorts

Longfei Wang; Michael Milton; Liam G. Fearnley; Oneil G. Bhalala; Melanie Bahlo; Haloom Rafehi

doi:10.1101/2025.03.26.25324719

Genetic & Genomic MedicinemedRxivMar 26, 2025

Preprint

Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson's disease cohorts

Longfei Wang iD, Michael Milton iD, Liam G. Fearnley iD, Oneil G. Bhalala iD, Melanie Bahlo iD, Haloom Rafehi iD

Abstract

Repeat expansions (REs) may be Parkinsons 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 other neurological disorders, and identified both interrupted and uninterrupted CAG REs in ATXN2 in 4/2,431 PD and 2/2,468 LBD cases, but none in controls. These findings suggest pleiotropy for certain REs in PD.

PDF DOI