J Parkinsons Dis. 2025 Jul 4:1877718X251354986. doi: 10.1177/1877718X251354986. Online ahead of print.
ABSTRACT
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene associate with familial and sporadic Parkinson's disease (PD). While various LRRK2 allelic variants have been studied, characteristics of R1441C carriers remain underexplored. We compared PD patients carrying the R1441C mutation (90% Israeli Arabs) to those carrying the G2019S (70% Ashkenazi Jews) and R1441G (42% Basque) variants. R1441C carriers exhibited a distinct clinical phenotype characterized by severe motor and non-motor symptoms and worse scores on the Montreal Cognitive Assessment. These findings highlight the importance of ethnic diversity and genetic stratification in PD research. These results need confirmation in larger, more diverse samples.
PMID:40611668 | DOI:10.1177/1877718X251354986
Authors
Rafi Hadad, MD
Neurologist
Isabel Elaine Allen, PhD, MA
Professor of Biostatistics & Epidemiology
Victor Valcour, MD, PhD
Site Director, University of California, San Francisco
