Evidence map›Paper›PMID 39076159›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2024

Team Science Approaches to Unravel Monogenic Parkinson's Disease on 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

Abstract read
In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
–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

10 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Rethinking 'rare'Journal of Parkinson's disease · 2025
    Pooled it
  2. Review
  3. Observational
  4. medRxiv : the preprint server for health sciences · 2026
    Article
  5. Review
  6. Review
  7. Article
  8. Review
  9. Article
  10. Biomarker-Based Approach to α-Synucleinopathies: Lessons from Neuropathology.Movement disorders : official journal of the Movement Disorder Society · 2024
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

34 authors.

Johanna JunkerInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0003-0756-9569
Lara M LangeInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Eva-Juliane VollstedtInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
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.
Azlina Ahmad AnnuarDepartment of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
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.
Thomas GasserDepartment for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.ORCID 0000-0002-1069-1146
Peter HeutinkDepartment for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
Anastasia IllarionovaGerman Center for Neurodegenerative Diseases, Tuebingen, Germany.ORCID 0000-0002-1711-7155
Yuliia KananaInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Ignacio J Keller SarmientoKen and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
Kishore R KumarFaculty of Medicine and Health, University of Sydney, Sydney, New South Wales, 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.
Ignacio F MataGenomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.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, Illinois, USA.ORCID 0000-0003-3383-9665
Mike A NallsDataTecnica, Washington, DC, USA.
Shalini PadmanabhanDiscovery and Translational Research, The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USA.ORCID 0000-0002-6933-416X
Cholpon ShambetovaInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
J C SolleDepartment of Clinical Research, The Michael J. Fox Foundation for Parkinson's Research, New York, New York, 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, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Cornelis BlauwendraatCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0001-9358-8111
Katja LohmannInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Zih-Hua FangGerman Center for Neurodegenerative Diseases, Tuebingen, Germany.
Christine KleinInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID 0000-0003-2102-3431
Global Parkinson's Genetics Program (GP2)

Funding

Genetic analysis in families with neurological diseaseZIAAG000958 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$10.9M
Modeling the impact of Women's Specific Health Factors in PD outcomes in LatinasR01NS112499 · NINDS · CLEVELAND CLINIC LERNER COM-CWRU · PI FERNANDEZ MATA, IGNACIO · 2020 to 2024
$3.3M
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 Z99 AG999999NINDS NIH HHS K08 NS131581NINDS NIH HHS R01 NS112499
6 · The paper itself

Abstract

backgroundUntil 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 a global scale.

objectiveTo identify the multi-ancestry spectrum of monogenic PD.

methodsThe first systematic approach to embrace monogenic PD worldwide, The Michael J. Fox Foundation Global Monogenic PD Project, contacted authors of publications reporting individuals carrying pathogenic variants in known PD-causing genes. In contrast, the Global Parkinson's Genetics Program's Monogenic Network took a different approach by targeting PD centers underrepresented or not yet represented in the medical literature.

resultsIn this article, we describe combining both efforts in a merger project resulting in a global monogenic PD cohort with the buildup of a sustainable infrastructure to identify the multi-ancestry spectrum of monogenic PD and enable studies of factors modifying penetrance and expressivity of monogenic PD.

conclusionsThis effort demonstrates the value of future research based on team science approaches to generate comprehensive and globally relevant results. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Indexed as

Parkinson DiseaseGenetic Association StudiesGenetic Predisposition to DiseaseHumansGP2MJFF GMPDmonogenic Parkinson's diseaseparkinsonismParkinson's disease

Identifiers

PMID39076159
PMCPMC12131278

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.