Evidence map›Paper›PMID 42396269›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.

Lara M Lange, Catalina Cerquera-Cleves, Ai Huey Tan, Shen-Yang Lim, Njideka U Okubadejo, Chin-Hsien Lin, Pin-Shiuan Chen, Jung Hwan Shin, Azlina Ahmad-Annuar, Laurel A Screven and 30 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
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

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

40 authors.

Lara M LangeLaboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.ORCID 0000-0002-7162-9821
Catalina Cerquera-ClevesNeurology Unit, Department of Neurosciences, Hospital Universitario San Ignacio, Bogotá, Colombia.ORCID 0000-0002-3874-0261
Ai Huey TanDivision of Neurology, Department of Medicine, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Malaysia.ORCID 0000-0002-2979-3839
Shen-Yang LimDivision of Neurology, Department of Medicine, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Malaysia.ORCID 0000-0002-6942-2522
Njideka U OkubadejoNeurology Unit, Department of Medicine, College of Medicine, University of Lagos, Lagos State, Nigeria.ORCID 0000-0003-2975-8803
Chin-Hsien LinDepartment of Neurology, National Taiwan University Hospital, Taipei, Taiwan.ORCID 0000-0001-8566-7573
Pin-Shiuan ChenDepartment of Neurology, National Taiwan University Hospital, Taipei, Taiwan.ORCID 0000-0003-3992-1942
Jung Hwan ShinDepartment of Neurology, Seoul National University Hospital, Seoul, South Korea.ORCID 0000-0003-4182-3612
Azlina Ahmad-AnnuarDepartment of Biomedical Science, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Malaysia.ORCID 0000-0001-6329-4366
Laurel A ScrevenThe Global Parkinson's Genetics Program (GP2), Chevy Chase, MD, USA.ORCID 0009-0007-8630-6754
Viorica ChelbanUK Dementia Research Institute Parkinson's Research Centre at UCL, London, WC1N 3BG, UK.ORCID 0000-0002-5817-6290
Allison A DilliotParkinson's Foundation, New York, NY, USA.ORCID 0000-0003-3863-9304
André FienemannInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0009-0004-9594-3673
Kamalini Ghosh GalvelisParkinson's Foundation, New York, NY, USA.ORCID 0009-0000-4178-0777
Henry HouldenUK Dementia Research Institute Parkinson's Research Centre at UCL, London, WC1N 3BG, UK.ORCID 0000-0002-2866-7777
Hirotaka IwakiDataTecnica, Washington, DC, USA.ORCID 0000-0002-8982-7885
Zane JaunmuktaneDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-7738-8881
Patrick W CullinaneDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-4360-2680
Thomas WarnerDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-6195-6995
Johanna JunkerDepartment of Neurology, University Hospital Schleswig Holstein, University of Luebeck, Luebeck, Germany.ORCID 0000-0003-0756-9569
Yuliia KananaInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Ignacio J Keller SarmientoDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID 0000-0003-0979-6001
Christine KleinInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0003-2102-3431
Pin-Jui KungDivision of Plastic Surgery, Department of Surgery, National Taiwan University Hospital, Taipei, Taiwan.ORCID 0000-0001-8369-0227
Hampton L LeonardDataTecnica, Washington, DC, USA.ORCID 0000-0003-2390-8110
Niccoló E MencacciDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Mike A NallsDataTecnica, Washington, DC, USA.
Raquel RealDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-8117-742X
Samia Ben SassiNational Institute Mongi Ben Hamida of Neurology, Tunis, Tunisia.ORCID 0000-0002-1002-5979
Joanne TrinhInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Dan VitaleDataTecnica, Washington, DC, USA.ORCID 0000-0002-0637-3671
Ana WestenbergerInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0001-8062-6959
Lesley Y WuDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-5464-5603
Andrew B SingletonThe Global Parkinson's Genetics Program (GP2), Chevy Chase, MD, USA.ORCID 0000-0001-5606-700X
Huw R MorrisDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-5473-3774
Katja LohmannInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Cornelis BlauwendraatThe Global Parkinson's Genetics Program (GP2), Chevy Chase, MD, USA.ORCID 0000-0001-9358-8111
Peter HeutinkInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0001-5218-1737
Zih-Hua FangDataTecnica, Washington, DC, USA.ORCID 0000-0002-0225-8772
Global Parkinson’s Genetics Program (GP2)

Funding

STRIDESOT2OD027852 · OD · FOUR POINTS TECHNOLOGY, LLC · PI Joel A Lipkin · 2018 to 2026
$255.6M
STRIDES OT2OD027060 · OD · CARAHSOFT TECHNOLOGY CORPORATION · PI Terry Drinkwine · 2018 to 2026
$134.1M
NIH STRIDES - Azure and Associated Services and Training.OT2OD032100 · OD · DELL FEDERAL SYSTEMS L.P. · PI Amy K HammondOdwyer, Erum Siddiqui · 2021 to 2026
$62.2M
Understanding the role of BORCS5 in neuronal lysosomal function and neurodegenerationK08NS131581 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Niccolo E Mencacci · 2024 to 2026
$673k
NIH HHS OT2 OD027060NIH HHS OT2 OD027852NIH HHS OT2 OD032100NINDS NIH HHS K08 NS131581Wellcome Trust
6 · The paper itself

Abstract

Expanded short tandem repeats contribute to a broad spectrum of neurodegenerative diseases, yet their roles in Parkinson's disease (PD) and parkinsonism remain incompletely characterized, especially across diverse ancestries. We analyzed short-read whole-genome (WGS) and clinical exome sequencing (CES) data from 38,365 individuals (28,861 WGS; 9,504 CES), encompassing 23,242 patients with PD, 4,729 patients with atypical parkinsonism and 10,394 healthy controls from 11 genetic ancestries. To determine carrier frequencies and characterize repeat structures across diverse ancestries, we genotyped 12 established pathogenic loci where normal, intermediate, and pathogenic alleles can be reliably differentiated using short-read sequencing data. Additionally, we conducted threshold-based associations to determine the minimum threshold associated with increased PD risk in 15,995 individuals (8,591 PD, 7,404 controls) of European ancestry. Pathogenic repeat expansions were detected in 62 patients (56 PD and 6 atypical parkinsonism) and 5 controls across seven loci (

Indexed as

associationPDpolyglutaminerepeat interruptionrepeat length

Identifiers

PMID42396269
PMCPMC13321217

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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.