The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
- the Global Parkinson's Genetics Program (GP2),
- Lara M. Lange(corresponding author)(Author),
- Kristin Levine(Author),
- Susan H. Fox(Author),
- Connie Marras(Author),
- Nazish Ahmed(Author)
- University of Lübeck and University Medical Center Schleswig-Holstein,
- University of Lübeck,
- National Institute on Aging (NIA),
- DataTecnica LLC,
- Toronto Western Hospital University of Toronto,
- University of Cincinnati
Research Output:
Contribution to journal
Article
Peer-review
Open access
Publication Information
Output type
Research Output:
Contribution to journal
Article
Peer-reviewOriginal language
EnglishArticle number
58Journal (Volume, Issue Number)
npj Parkinson's Disease (Volume 11, Issue 1)Publication milestones
- Published - 12/2025
Publication status
Published - 12/2025
Publication IDs
- Scopus: 105001136183
Abstract
LRRK2-PD represents the most common form of autosomal dominant Parkinson’s disease. We identified the LRRK2 p.L1795F variant in three families and six additional unrelated cases using genetic data from over 50,000 individuals. Carriers with available genotyping data shared a common haplotype. The clinical presentation resembles other LRRK2-PD forms. Combined with published functional evidence showing strongly enhanced LRRK2 kinase activity, we provide evidence that LRRK2 p.L1795F is pathogenic.