Evidence map›Paper›PMID 38529492›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Understanding monogenic Parkinson's disease at a global scale.

Johanna Junker, Lara M Lange, Eva-Juliane Vollstedt, Karisha Roopnarain, Maria Leila M Doquenia, Azlina Ahmad Annuar, Micol Avenali, Soraya Bardien, Natascha Bahr, Melina Ellis and 24 more

Open access · greenAbstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. 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, 3 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

34 authors at 12 institutions in 6 countries.

Johanna JunkerInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0003-0756-9569
Lara M LangeInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0002-7162-9821
Eva-Juliane VollstedtInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0002-6898-9201
Karisha RoopnarainDepartment of Neurology, University of Free State, Bloemfontein, South Africa.ORCID 0009-0009-6040-2531
Maria Leila M DoqueniaInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0003-3708-6680
Azlina Ahmad AnnuarDepartment of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.ORCID 0000-0002-9000-793X
Micol AvenaliDepartment of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.ORCID 0000-0002-7880-9921
Soraya BardienDivision of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.ORCID 0000-0002-3508-3438
Natascha BahrInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0009-0008-1284-3343
Melina EllisNorthcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia.ORCID 0000-0002-8542-048X
Caterina GalandraDepartment of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.ORCID 0000-0002-7048-814X
Thomas GasserDepartment for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-1069-1146
Peter HeutinkDepartment for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.ORCID 0000-0001-5218-1737
Anastasia IllarionovaGerman Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.ORCID 0000-0002-1711-7155
Yuliia KananaInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0002-0838-9714
Ignacio J Keller SarmientoKen and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL 60611, USA.ORCID 0000-0003-0979-6001
Kishore R KumarFaculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.ORCID 0000-0003-3482-6962
Shen-Yang LimDivision of Neurology, Department of Medicine, and the Mah Pooi Soo and Tan Chin Nam Centre for Parkinson's and Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.ORCID 0000-0002-6942-2522
Harutyun MadoevInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0001-5360-5319
Ignacio F MataGenomic Medicine Institute (GMI), Cleveland Clinic, Cleveland, OH, United States.ORCID 0000-0003-1198-0633
Niccolò E MencacciKen and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, IL 60611, USA.ORCID 0000-0003-3383-9665
Mike A NallsDataTecnica, Washington DC, USA.
Shalini PadmanabhanDiscovery & Translational Research, The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA.
Cholpon ShambetovaInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0002-2547-315X
J SolleDepartment of Clinical Research, Michael J. Fox Foundation for Parkinson's Research, New York City, NY, USA.ORCID 0000-0002-9941-4830
Ai-Huey TanDivision of Neurology, Department of Medicine, and the Mah Pooi Soo and Tan Chin Nam Centre for Parkinson's and Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.ORCID 0000-0002-2979-3839
Joanne TrinhInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0001-9863-2070
Enza Maria ValenteIRCCS Mondino Foundation, Pavia, Italy.ORCID 0000-0002-0600-6820
Andrew SingletonCenter 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.
Cornelis BlauwendraatCenter 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 0000-0001-9358-8111
Katja LohmannInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0002-5121-1460
Zih-Hua FangGerman Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.ORCID 0000-0002-0225-8772
Christine KleinInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0003-2102-3431
Global Parkinson’s Genetics Program (GP2)
University of Lübeck · DEGerman Center for Neurodegenerative Diseases · DENational Institutes of Health · USUniversity of Malaya · MYUniversity of Pavia · ITMichael J. Fox Foundation · USNorthwestern University · USThe University of Sydney · AUUniversity Hospital Schleswig-Holstein · DECleveland Clinic · USSouth African Medical Research Council · ZAUniversity of the Free State · ZA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at global scale. The first systematic approach to embrace monogenic PD worldwide, The Michael J. Fox Foundation Global Monogenic PD (MJFF GMPD) Project, contacted authors of publications reporting individuals carrying pathogenic variants in known PD-causing genes. In contrast, the Global Parkinson's Genetics Program's (GP2) Monogenic Network took a different approach by targeting PD centers not yet represented in the medical literature. Here, we describe combining both efforts in a "merger project" resulting in a global monogenic PD cohort with build-up of a sustainable infrastructure to identify the multi-ancestry spectrum of monogenic PD and enable studies of factors modifying penetrance and expression of monogenic PD. This effort demonstrates the value of future research based on team science approaches to generate comprehensive and globally relevant results.

Identifiers

PMID38529492
PMCPMC10962747
OpenAlexW4392864525

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

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.