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The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

Lange, L.M. ; Brolin, K. LU orcid and Fang, Zih-Hua (2025) In npj Parkinson's Disease 11(1).
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. © The Author(s) 2025.
Please use this url to cite or link to this publication:
author
; and
author collaboration
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
LRRK2, protein, unclassified drug, Article, enzyme activity, European, female, genotyping, human, male, Parkinson disease, whole genome sequencing
in
npj Parkinson's Disease
volume
11
issue
1
article number
58
publisher
Springer Nature
external identifiers
  • scopus:105001136183
  • pmid:40133296
ISSN
2373-8057
DOI
10.1038/s41531-025-00896-2
language
English
LU publication?
yes
id
8ce07b08-7d30-4ea8-b88e-02654798dfd8
date added to LUP
2026-03-04 14:19:21
date last changed
2026-03-05 03:35:53
@article{8ce07b08-7d30-4ea8-b88e-02654798dfd8,
  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. © The Author(s) 2025.}},
  author       = {{Lange, L.M. and Brolin, K. and Fang, Zih-Hua}},
  issn         = {{2373-8057}},
  keywords     = {{LRRK2; protein; unclassified drug; Article; enzyme activity; European; female; genotyping; human; male; Parkinson disease; whole genome sequencing}},
  language     = {{eng}},
  number       = {{1}},
  publisher    = {{Springer Nature}},
  series       = {{npj Parkinson's Disease}},
  title        = {{The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population}},
  url          = {{http://dx.doi.org/10.1038/s41531-025-00896-2}},
  doi          = {{10.1038/s41531-025-00896-2}},
  volume       = {{11}},
  year         = {{2025}},
}