Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson's disease and Lewy Body Dementia cohorts
- Author(s)
- Wang, L; Milton, M; Fearnley, LG; Bhalala, OG; Bahlo, M; Rafehi, H;
- Details
- Publication Year 2025-11-27,Volume 11,Issue #1,Page 341
- Journal Title
- NPJ Parkinson’s Disease
- Abstract
- 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.
- Publisher
- Springer Nature
- Research Division(s)
- Genetics and Gene Regulation; Bioinformatics
- Publisher's Version
- https://doi.org/10.1038/s41531-025-01188-5
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2025-12-02 09:39:28
Last Modified: 2025-12-02 09:40:42