Evidence map›Paper›PMID 40672488›Full record

ArticlemedRxiv : the preprint server for health sciences2025

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 27 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

37 authors.

Lara M LangeLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.ORCID 0000-0002-7162-9821
Zih-Hua FangGerman Center for Neurodegenerative Diseases (DZNE), Tubingen, Germany.ORCID 0000-0002-0225-8772
Laurel ScrevenGlobal Parkinson's Genetics Program (GP2), Maryland, USA.
Ai Huey TanDivision of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.ORCID 0000-0002-2979-3839
Roy N AlcalayNeurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Neurology, Columbia Irving Medical School, New York, NY, USA.ORCID 0000-0002-5717-4875
Rim AmouriNational Institute Mongi Ben Hamida of Neurology, Tunis, Tunisia.ORCID 0000-0001-5641-5748
Roberta BovenziNeurology Unit, Department of Systems Medicine, Tor Vergata University of Rome, Rome, Italy.ORCID 0009-0004-4824-0051
Matilda FennDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Joshua L I FrostDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Joseph JankovicParkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0003-4129-3674
Simona JasaityteDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0009-0009-6030-2901
Zane JaunmuktaneDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-7738-8881
Beomseok JeonDepartment of Neurology, Seoul National University Hospital, Seoul, South Korea.ORCID 0000-0003-2491-3544
Ignacio Juan Keller SarmientoDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID 0000-0003-0979-6001
Rejko KrügerLuxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg.ORCID 0000-0003-4258-6241
Gregor KuhlenbäumerUniversity Hospital Schleswig-Holstein (UKSH), Campus Kiel, Kiel, Germany.ORCID 0000-0002-3262-8113
Chin-Hsien LinDepartment of Neurology, National Taiwan University Hospital, Taipei, Taiwan.ORCID 0000-0001-8566-7573
Lukas PavelkaLuxembourg Institute of Health (LIH), Strassen, Luxembourg and Centre Hospitalier de Luxembourg (CHL), Luxembourg.ORCID 0000-0002-7721-3317
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.ORCID 0000-0002-1002-5979
Tommaso SchirinziNeurology Unit, Department of Systems Medicine, Tor Vergata University of Rome, Rome, Italy.ORCID 0000-0002-2517-6278
Jung Hwan ShinDepartment of Neurology, Seoul National University Hospital, Seoul, South Korea.
Joshua M ShulmanParkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, USA.
Yi Wen TayDivision of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.ORCID 0000-0002-9319-0768
Ryan UittiMayo Clinic, Jacksonville, FL, USA.ORCID 0000-0001-8113-4710
Tom WarnerDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-2648-4264
Zbigniew K WszolekMayo Clinic, Jacksonville, FL, USA.ORCID 0000-0001-5487-1053
Lesley WuDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-5464-5603
Ruey-Meei WuDepartment of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Kirsten E ZeunerUniversity Hospital Schleswig-Holstein (UKSH), Campus Kiel, Kiel, Germany.
Cornelis BlauwendraatGlobal Parkinson's Genetics Program (GP2), Maryland, USA.ORCID 0000-0001-9358-8111
Andrew SingletonGlobal Parkinson's Genetics Program (GP2), Maryland, USA.ORCID 0000-0001-5606-700X
Niccolò E MencacciDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID 0000-0003-3383-9665
Huw R MorrisDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-5473-3774
Shen-Yang LimDivision of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.ORCID 0000-0002-6942-2522
Katja LohmannInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Christine KleinInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0003-2102-3431

Funding

Genome wide SNP analysis in Parkinson's diseaseZIAAG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.6M
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6M
MIDCAREER AWARD IN PATIENT ORIENTED RESEARCH ON AGINGK24AG000949 · NIA · YALE UNIVERSITY · PI INOUYE, SHARON K. · 1999 to 2009
$1.4M
Intramural NIH HHS Z01 AG000949Intramural NIH HHS ZIA AG000949NIA NIH HHS K24 AG000949
6 · The paper itself

Abstract

Background: Dystonia and Parkinson's disease (PD) show clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective: To assess the frequency of dystonia-linked pathogenic variants in PD. Methods: We screened sequencing data from 15,738 individuals (7,851 PD, 4,287 atypical parkinsonism, and 3,600 unaffected) from GP2 and AMP-PD for variants in genes linked to isolated dystonia, dystonia-parkinsonism, and myoclonus-dystonia. Results: Pathogenic variants were only identified in PD patients. Forty-five PD individuals (0.57%) carried 26 distinct (likely) pathogenic variants in nine dystonia-linked genes, most frequently in Conclusion: Though rare, pathogenic variants in dystonia-linked genes are present in clinically and pathologically diagnosed PD. Our results reinforce

Indexed as

DystoniaGCH1MonogenicParkinson’s diseaseVPS16

Identifiers

PMID40672488
PMCPMC12265777

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