Evidence map›Paper›PMID 40133296›Full record

ArticleNPJ Parkinson's disease2025

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

Lara M Lange, Kristin Levine, Susan H Fox, Connie Marras, Nazish Ahmed, Nicole Kuznetsov, Dan Vitale, Hirotaka Iwaki, Katja Lohmann, Luca Marsili and 16 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ Parkinson's disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Observational
  2. medRxiv : the preprint server for health sciences · 2026
    Article
  3. Vacuolar protein sorting 35 regulates retinal neurovascular functionInternational journal of ophthalmology · 2026
    Article
  4. Article
  5. Article
4 · The record

Corrections and comments

  • Update of
    The2024
5 · Who and what money

Authors and funding

26 authors.

Lara M LangeInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany. la.lange@uni-luebeck.de.ORCID http://orcid.org/0000-0002-7162-9821
Kristin LevineDataTecnica, Washington, DC, USA.ORCID http://orcid.org/0000-0002-5702-0980
Susan H FoxEdmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, University Health Network, University of Toronto, Toronto, ON, Canada.
Connie MarrasEdmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, University Health Network, University of Toronto, Toronto, ON, Canada.
Nazish AhmedEdmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, University Health Network, University of Toronto, Toronto, ON, Canada.
Nicole KuznetsovDataTecnica, Washington, DC, USA.
Dan VitaleDataTecnica, Washington, DC, USA.
Hirotaka IwakiLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-8982-7885
Katja LohmannInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID http://orcid.org/0000-0002-5121-1460
Luca MarsiliUniversity of Cincinnati, Cincinnati, OH, USA.ORCID http://orcid.org/0000-0002-6438-9911
Alberto J EspayUniversity of Cincinnati, Cincinnati, OH, USA.ORCID http://orcid.org/0000-0002-3389-136X
Peter BauerCENTOGENE GmbH, Rostock, Germany.
Christian BeetzCENTOGENE GmbH, Rostock, Germany.
Jessica MartinCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0009-0000-0830-9289
Stewart A FactorDepartment of Neurology, Emory University School of Medicine, Atlanta, GA, USA.ORCID http://orcid.org/0000-0002-0449-973X
Lenora A HigginbothamDepartment of Neurology, Emory University School of Medicine, Atlanta, GA, USA.
Honglei ChenDepartment of Epidemiology and Biostatistics, Michigan State University, Michigan, MI, USA.
Hampton LeonardDataTecnica, Washington, DC, USA.
Mike A NallsDataTecnica, Washington, DC, USA.ORCID http://orcid.org/0000-0003-0319-4325
Niccolo E MencacciDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Huw R MorrisDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0002-5473-3774
Andrew B SingletonLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Christine KleinInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Cornelis BlauwendraatLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-9358-8111
Zih-Hua FangGerman Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Zih-Hua.Fang@dzne.de.ORCID http://orcid.org/0000-0002-0225-8772
Global Parkinson’s Genetics Program (GP2)

Funding

Genome wide SNP analysis in Parkinson's diseaseZIAAG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.6M
Understanding the role of BORCS5 in neuronal lysosomal function and neurodegenerationK08NS131581 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Niccolo E Mencacci · 2024 to 2026
$673k
Intramural NIH HHS ZIA AG000949NINDS NIH HHS K08 NS131581
6 · The paper itself

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.

Identifiers

PMID40133296
PMCPMC11937388

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.