TY - JOUR
T1 - The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
AU - the Global Parkinson’s Genetics Program (GP2)
AU - Lange, Lara M.
AU - Levine, Kristin
AU - Fox, Susan H.
AU - Marras, Connie
AU - Ahmed, Nazish
AU - Kuznetsov, Nicole
AU - Vitale, Dan
AU - Iwaki, Hirotaka
AU - Lohmann, Katja
AU - Marsili, Luca
AU - Espay, Alberto J.
AU - Bauer, Peter
AU - Beetz, Christian
AU - Martin, Jessica
AU - Factor, Stewart A.
AU - Higginbotham, Lenora A.
AU - Chen, Honglei
AU - Leonard, Hampton
AU - Nalls, Mike A.
AU - Mencacci, Niccolo E.
AU - Morris, Huw R.
AU - Singleton, Andrew B.
AU - Klein, Christine
AU - Blauwendraat, Cornelis
AU - Fang, Zih Hua
AU - Atadzhanov, Masharip
AU - Nguyen, Toan
AU - Nguyen, Duan
AU - Koretsky, Mathew
AU - Makarious, Mary B.
AU - Faghri, Faraz
AU - Beach, Thomas
AU - Xie, Tao
AU - Dumanis, Sonya
AU - Walker, Ruth
AU - Alcalay, Roy
AU - Albin, Roger
AU - Lubbe, Steven
AU - Puckelwartz, Megan J.
AU - Farrer, Matthew
AU - Dean, Marissa
AU - Shulman, Lisa
AU - Ruffrage, Lauren
AU - Chahine, Lana M.
AU - Marek, Kenneth
AU - Markopoulou, Katerina
AU - Kieburtz, Karl
AU - Nuytemans, Karen
AU - Galvelis, Kamalini Ghosh
AU - Sobering, Andrew K.
N1 - Publisher Copyright:
© The Author(s) 2025.
PY - 2025/12
Y1 - 2025/12
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/105001136183
UR - https://www.scopus.com/pages/publications/105001136183#tab=citedBy
U2 - 10.1038/s41531-025-00896-2
DO - 10.1038/s41531-025-00896-2
M3 - Article
AN - SCOPUS:105001136183
SN - 2373-8057
VL - 11
JO - npj Parkinson's Disease
JF - npj Parkinson's Disease
IS - 1
M1 - 58
ER -