Publication: The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
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Lange, Lara M.
Levine, Kristin
Vitale, Dan
Iwaki, Hirotaka
Lohmann, Katja
Marsili, Luca
Espay, Alberto J.
Chen, Honglei
Leonard, Hampton
Nalls, Mike A.
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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.
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Nature Research
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Source
NPJ Parkinson's Disease
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DOI
10.1038/s41531-025-00896-2
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CC BY (Attribution)
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Creative Commons license
Except where otherwise noted, this item's license is described as CC BY (Attribution)