Lange, Lara M. and Levine, Kristin and Fox, Susan H. and Marras, Connie and Ahmed, Nazish and Kuznetsov, Nicole and Vitale, Dan and Iwaki, Hirotaka and Lohmann, Katja and Marsili, Luca and Espay, Alberto J. and Bauer, Peter and Beetz, Christian and Martin, Jessica and Factor, Stewart A. and Higginbotham, Lenora A. and Chen, Honglei and Leonard, Hampton and Nalls, Mike A. and Mencacci, Niccolo E. and Morris, Huw R. and Singleton, Andrew B. and Klein, Christine and Blauwendraat, Cornelis and Fang, Zih-Hua and Mohamed, Wael Mohamed Yousef (2025) The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population. npj Parkinson's Disease, 11 (1). pp. 1-10. E-ISSN 2373-8057
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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.
| Item Type: | Article (Journal) |
|---|---|
| Additional Information: | 7497/120439 |
| Subjects: | R Medicine > R Medicine (General) |
| Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button): | Kulliyyah of Medicine > Department of Basic Medical Kulliyyah of Medicine |
| Depositing User: | Dr Wael Mohamed |
| Date Deposited: | 07 Apr 2025 10:52 |
| Last Modified: | 07 Apr 2025 10:55 |
| URI: | http://irep.iium.edu.my/id/eprint/120439 |
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