Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson’s disease and Lewy Body Dementia cohorts
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.
Authors
- Haloom Rafehi (ORCID: https://orcid.org/0000-0002-8954-4930)
- Michael Milton (ORCID: https://orcid.org/0000-0002-8965-2595)
- Liam G. Fearnley (ORCID: https://orcid.org/0000-0003-2198-5411)
- Longfei Wang (ORCID: https://orcid.org/0000-0002-5143-4146)
- Melanie Bahlo (ORCID: https://orcid.org/0000-0001-5132-0774)
- Oneil G. Bhalala (ORCID: https://orcid.org/0000-0002-4412-7009)
Institutions
- The Royal Melbourne Hospital (AU)
- The University of Melbourne (AU)
- Walter and Eliza Hall Institute of Medical Research (AU)
Publication Details
- Journal
- npj Parkinson s Disease
- Published
- 2025-11-27
- DOI
- https://doi.org/10.1038/s41531-025-01188-5
- Primary Topic
- Parkinson's Disease Mechanisms and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00