Evidence map›Paper›PMID 41074695›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2026

Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.

Lara M Lange, Zih-Hua Fang, Laurel Screven, Ai Huey Tan, Roy N Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L I Frost, Joseph Jankovic and 28 more

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In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. medRxiv : the preprint server for health sciences · 2026
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

38 authors.

Lara M LangeLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.
Zih-Hua FangGerman Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Laurel ScrevenGlobal Parkinson's Genetics Program (GP2), Chevy Chase, Maryland, USA.
Ai Huey TanDivision of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.ORCID https://orcid.org/0000-0002-2979-3839
Roy N AlcalayNeurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Rim AmouriNational Institute Mongi Ben Hamida of Neurology, Tunis, Tunisia.
Roberta BovenziNeurology Unit, Department of Systems Medicine, Tor Vergata University of Rome, Rome, Italy.
Matilda FennDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Joshua L I FrostDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Joseph JankovicDepartment of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, Texas, USA.
Simona JasaityteDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Zane JaunmuktaneDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Beomseok JeonDepartment of Neurology, Seoul National University Hospital, Seoul, South Korea.ORCID https://orcid.org/0000-0003-2491-3544
Ignacio Juan Keller SarmientoDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Rejko KrügerLuxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Gregor KuhlenbäumerDepartment of Neurology, University Hospital Schleswig-Holstein (UKSH), Kiel, Germany.
Chin-Hsien LinDepartment of Neurology, National Taiwan University Hospital, Taipei, Taiwan.ORCID https://orcid.org/0000-0001-8566-7573
Lukas PavelkaLuxembourg Institute of Health (LIH), Strassen, Luxembourg and Centre Hospitalier de Luxembourg (CHL), Esch-sur-Alzette, Luxembourg.
Maria Teresa PeriñanCentre for Preventive Neurology, Wolfson Institute of Population Health, Queen Mary University of London, London, United Kingdom.
Samia Ben SassiNational Institute Mongi Ben Hamida of Neurology, Tunis, Tunisia.
Tommaso SchirinziNeurology Unit, Department of Systems Medicine, Tor Vergata University of Rome, Rome, Italy.ORCID https://orcid.org/0000-0002-2517-6278
Jung Hwan ShinDepartment of Neurology, Seoul National University Hospital, Seoul, South Korea.ORCID https://orcid.org/0000-0003-4182-3612
Joshua M ShulmanDepartment of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, Texas, USA.
Yi Wen TayDivision of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.ORCID https://orcid.org/0000-0002-9319-0768
Ryan UittiMayo Clinic, Jacksonville, Florida, USA.
Tom WarnerDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.ORCID https://orcid.org/0000-0001-6195-6995
Zbigniew K WszolekMayo Clinic, Jacksonville, Florida, USA.ORCID https://orcid.org/0000-0001-5487-1053
Lesley WuDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Ruey-Meei WuDepartment of Neurology, National Taiwan University Hospital, Taipei, Taiwan.ORCID https://orcid.org/0000-0002-4947-5467
Kirsten E ZeunerDepartment of Neurology, University Hospital Schleswig-Holstein (UKSH), Kiel, Germany.
Cornelis BlauwendraatGlobal Parkinson's Genetics Program (GP2), Chevy Chase, Maryland, USA.ORCID https://orcid.org/0000-0001-9358-8111
Andrew SingletonGlobal Parkinson's Genetics Program (GP2), Chevy Chase, Maryland, USA.
Niccolò E MencacciDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Huw R MorrisDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.ORCID https://orcid.org/0000-0002-5473-3774
Shen-Yang LimDivision of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Katja LohmannInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID https://orcid.org/0000-0002-5121-1460
Christine KleinInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Global Parkinson's Genetics Program (GP2)

Funding

Understanding the role of BORCS5 in neuronal lysosomal function and neurodegenerationK08NS131581 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Niccolo E Mencacci · 2024 to 2026
$673k
Aligning Science Across Parkinson's (ASAP)Global Parkinson's Genetics ProgramNINDS NIH HHS K08 NS131581
6 · The paper itself

Abstract

backgroundDystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear.

objectiveThe aim was to assess the frequency of dystonia-linked pathogenic variants in PD.

methodsWe screened sequencing data from 15,684 individuals (8272 PD, 3200 atypical parkinsonism, and 4212 unaffected) from the Global Parkinson's Genetics Program (GP2) and Accelerating Medicines Partnership-Parkinson's Disease (AMP-PD) for variants in genes linked to isolated dystonia, dystonia-parkinsonism, and myoclonus-dystonia.

resultsPathogenic variants were identified only in PD patients. Forty-five PD individuals (0.54%) carried 26 distinct (likely) pathogenic variants in nine dystonia-linked genes, most frequently in GCH1, followed by VPS16.

conclusionThough rare, pathogenic variants in dystonia-linked genes are present in clinically and pathologically diagnosed PD. Our results reinforce GCH1 as a PD-relevant gene with clinical implications, whereas variants identified in other genes are rare and of uncertain relation to the PD phenotype. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Indexed as

DystoniaDystonic DisordersGTP CyclohydrolaseParkinson DiseaseAdultAgedFemaleHumansMaleMiddle AgedVesicular Transport ProteinsGCH1 protein, humanGTP CyclohydrolaseVesicular Transport ProteinsdystoniaGCH1monogenicParkinson's diseaseVPS16

Identifiers

PMID41074695
PMCPMC12882037

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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.