TY  - JOUR
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
TI  - The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.
JO  - npj Parkinson's Disease
VL  - 11
IS  - 1
SN  - 2373-8057
CY  - [London]
PB  - Springer Nature
M1  - DZNE-2025-00467
SP  - 58
PY  - 2025
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.
LB  - PUB:(DE-HGF)16
C6  - pmid:40133296
DO  - DOI:10.1038/s41531-025-00896-2
UR  - https://pub.dzne.de/record/277789
ER  -