Article
No evidence for the LRRK2 p.L1795F variant in a Southern Italian cohort with Parkinson's disease.
Gene - 20 Mar 2026
Gagliardi Monica, Procopio Radha, Felicetti Alessia, Quattrone Andrea, Arabia Gennarina, Morelli Maurizio, Gambardella Antonio, Annesi Grazia, Quattrone Aldo
Abstract excerpt
BACKGROUND: Pathogenic variants in the LRRK2 gene are among the most common genetic causes of autosomal dominant Parkinson's disease (PD). A recent study provided strong genetic and functional evidence supporting the pathogenicity of the rare missense variant p.L1795F (c.5385G > T), identified exclusively in individuals of European ancestry. However, its prevalence in Southern European populations remains...
Topics
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
- Parkinson Disease
- Italy
- Female
- Male
- Cohort Studies
- Middle Aged
- Aged
- Mutation, Missense
- Genetic Predisposition to Disease
- Gene Frequency