Evidence map›Paper›PMID 39287592›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2024

Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.

Björn-Hergen Laabs, Katja Lohmann, Eva-Juliane Vollstedt, Tobias Reinberger, Lisa-Marie Nuxoll, Gamze Kilic-Berkmen, Joel S Perlmutter, Sebastian Loens, Carlos Cruchaga, Andre Franke and 48 more

Registry-linked trialAbstract readMulticenter Study
PubMed Full text at PMC Publisher
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. It is linked to trial NCT03042962 (Brain Networks in Dystonia), which is not on this 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.

NCT03042962 recruitingnot on this map

Brain Networks in Dystonia

TypeobservationalSponsorMassachusetts Eye and Ear InfirmaryRan2015 to 2027Enrolled141ConditionsSpasmodic Dysphonia, Singer's Dystonia, Writer's Cramp, Musician's Focal Hand DystoniaArmsMRI, Blood draw
3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
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

58 authors.

Björn-Hergen LaabsInstitute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany.ORCID 0000-0002-9265-5738
Katja LohmannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Eva-Juliane VollstedtInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Tobias ReinbergerInstitute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
Lisa-Marie NuxollInstitute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany.ORCID 0000-0003-0167-6638
Gamze Kilic-BerkmenDepartment of Neurology, Emory University, Atlanta, Georgia, USA.ORCID 0000-0002-9156-5706
Joel S PerlmutterDepartment of Neurology, Radiology and Neuroscience, Washington University School of Medicine, St. Louis, Missouri, USA.
Sebastian LoensInstitute of Systems Motor Science, CBBM, University of Lübeck, Lübeck, Germany.ORCID 0000-0003-3067-5239
Carlos CruchagaDepartment of Psychiatry, Washington University School of Medicine, St. Louis, Missouri, USA.ORCID 0000-0002-0276-2899
Andre FrankeInstitute of Clinical Molecular Biology, Kiel University, Kiel, Germany.
Valerija DobricicLübeck Interdisciplinary Platform for Genome Analysis, University of Lübeck, Lübeck, Germany.ORCID 0000-0001-8559-1097
Frauke HinrichsInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Anne GrözingerInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Eckart AltenmüllerInstitute of Music Physiology and Musician's Medicine, Hanover University of Music, Drama and Media, Hanover, Germany.
Steven BellowsParkinson's Disease Center and Movement Disorder Clinic, Baylor College of Medicine, Houston, Texas, USA.
Sylvia BoeschDepartment of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Susan B BressmanDepartment of Neurology, Mount Sinai Beth Israel Medical Center, New York, New York, USA.
Kevin R DuqueJames J. and Joan A. Gardner Family Center for Parkinson's Disease and Movement Disorders Neurology and Rehabilitation Medicine, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Alberto J EspayJames J. and Joan A. Gardner Family Center for Parkinson's Disease and Movement Disorders Neurology and Rehabilitation Medicine, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.ORCID 0000-0002-3389-136X
Andreas FerbertDepartment of Neurology, Kassel School of Medicine, Klinikum Kassel, Kassel, Germany.
Jeanne S FeuersteinDepartment of Neurology, School of Medicine, University of Colorado, Aurora, Colorado, USA.ORCID 0000-0002-7701-3120
Samuel FrankDepartment of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0002-1866-162X
Thomas GasserDepartment of Neurology, University of Tübingen, Tübingen, Germany.
Bernhard HaslingerDepartment of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.ORCID 0000-0002-5513-1839
Robert JechDepartment of Neurology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.ORCID 0000-0002-9732-8947
Frank KaiserInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Christoph KammDepartment of Neurology, University Medical Centre Rostock, Rostock, Germany.ORCID 0000-0002-7618-2336
Katja KolleweClinic for Neurology, Hannover Medical School, Hannover, Germany.
Andrea A KühnDepartment of Neurology and Experimental Neurology, Charité-University Medicine, Berlin, Germany.
Mark S LeDouxVeracity Neuroscience LLC, Memphis, Tennessee, USA.
Ebba LohmannDepartment of Neurology, University of Tübingen, Tübingen, Germany.
Abhimanyu MahajanDepartment of Neurological Sciences, RUSH University, Chicago, Illinois, USA.ORCID 0000-0001-8807-6672
Alexander MünchauInstitute of Systems Motor Science, CBBM, University of Lübeck, Lübeck, Germany.ORCID 0000-0002-3219-2284
Trisha Multhaupt-BuellDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Alexander PantelyatDepartment of Neurology, Johns Hopkins Medicine, Baltimore, Maryland, USA.ORCID 0000-0002-6427-7485
Sarah E Pirio RichardsonDepartment of Neurology, University of New Mexico, Albuquerque, New Mexico, USA.
Deborah RaymondDepartment of Neurology, Mount Sinai Beth Israel Medical Center, New York, New York, USA.
Stephen G ReichUniversity of Maryland School of Medicine, Baltimore, Maryland, USA.
Rachel Saunders PullmanDepartment of Neurology, Mount Sinai Beth Israel Medical Center, New York, New York, USA.ORCID 0000-0001-8132-8806
Barbara SchormairInstitute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.ORCID 0000-0003-0942-5243
Nutan SharmaDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Azadeh Hamzehei SichaniDepartment of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Kristina SimonyanDepartment of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.ORCID 0000-0001-7444-0437
Jens VolkmannDepartment of Neurology, University Hospital Würzburg, Würzburg, Germany.
Aparna Wagle ShuklaDepartment of Neurology, University of Florida, Gainesville, Florida, USA.
Juliane WinkelmannInstitute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Laura J WrightDepartment of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Michael ZechInstitute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.ORCID 0000-0001-8112-9153
Kirsten E ZeunerClinic for Neurology, Christian-Albrechts-University, Kiel, Germany.
Simone ZittelDepartment of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.ORCID 0000-0002-3767-6376
Meike KastenInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Yan V SunDepartment of Epidemiology, Emory University Rollins School of Public Health, Emory University, Atlanta, Georgia, USA.
Tobias BäumerInstitute of Systems Motor Science, CBBM, University of Lübeck, Lübeck, Germany.
Norbert BrüggemannDepartment of Neurology, University of Lübeck, Lübeck, Germany.ORCID 0000-0001-5969-6899
Laurie J OzeliusDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Hyder A JinnahDepartment of Neurology, Emory University, Atlanta, Georgia, USA.
Christine KleinInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Inke R KönigInstitute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany.

Funding

Smartphone-Based "Burst" Cognitive AssessmentsP01AG003991 · NIA · WASHINGTON UNIVERSITY · PI JOHN MORRIS · 1985 to 2026
$69.5M
Imaging genetics of spasmodic dysphoniaR01DC011805 · NIDCD · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Kristina Simonyan · 2012 to 2026
$8.8M
Dystonia Coalition- Pilot ProjectU54NS116025 · NINDS · EMORY UNIVERSITY · PI JINNAH, HYDER A · 2019 to 2023
$7.1M
Dystonia CoalitionU54NS065701 · NINDS · EMORY UNIVERSITY · PI JINNAH, HYDER A · 2009 to 2014
$7.0M
TorsinA as a key link in receptor-mediated signalingP01NS087997 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI BREAKEFIELD, XANDRA OWENS, OZELIUS, LAURIE J. · 2015 to 2019
$6.4M
Voice tremor in spasmodic dysphonia: central mechanisms and treatment responseR01DC012545 · NIDCD · MASSACHUSETTS EYE AND EAR INFIRMARY · PI SIMONYAN, KRISTINA · 2012 to 2021
$5.2M
BIOMARKER DISCOVERY AND VALIDATION IN PSPU01NS102035 · NINDS · JOHNS HOPKINS UNIVERSITY · PI PANTELYAT, ALEXANDER Y. · 2018 to 2022
$4.5M
USING QUANTITATIVE TRAITS TO IDENTIFY NOVEL GENES FOR ALZHEIMERS DISEASE AND OTHER COMPLEX TRAITSRF1AG053303 · NIA · WASHINGTON UNIVERSITY · PI CLIMER, SHARLEE, CRUCHAGA, CARLOS · 2016 to 2020
$4.0M
Phase IIB: A Multi-Modal Remote Monitoring Platform for Frontotemporal Lobar Degeneration SyndromesR44AG080861 · NIA · BIOSENSICS, LLC · PI ADAM L. BOXER, Irene Litvan · 2022 to 2026
$3.5M
GENETIC MODIFIERS OF CEREBROSPINAL FLUID TREM2 IN ALZHEIMER'S DISEASERF1AG058501 · NIA · WASHINGTON UNIVERSITY · PI CRUCHAGA, CARLOS, PICCIO, LAURA · 2018 to 2018
$3.5M
The Familial Alzheimer Sequencing (FASe) ProjectU01AG058922 · NIA · WASHINGTON UNIVERSITY · PI CRUCHAGA, CARLOS, GOATE, ALISON M · 2018 to 2022
$3.5M
Genetic Variants in Craniofacial DystoniasR01DE030464 · NIDCR · MASSACHUSETTS GENERAL HOSPITAL · PI NUTAN SHARMA · 2022 to 2026
$3.0M
Aligning Science Across Parkinson'sBundesministerium für Bildung und Forschung 01GM1514ABundesministerium für Bildung und Forschung 01GM2302Deutsche Forschungsgemeinschaft EXC2167Deutsche Forschungsgemeinschaft FOR2488European Joint Programme on Rare DiseasesEuropean UnionNational Institute for Neurological Research, Czech Republic LX22NPO5107NCATS NIH HHS U54 TR001456NIA NIH HHS K23 AG059891NIA NIH HHS P01 AG003991NIA NIH HHS R01 AG044546NIA NIH HHS R44 AG080861NIA NIH HHS RF1 AG053303NIA NIH HHS RF1 AG058501NIA NIH HHS U01 AG058922NIDCD NIH HHS R01 DC011805NIDCD NIH HHS R01 DC012545NIDCD NIH HHS R01 DC019353NIDCR NIH HHS R01 DE030464NIH HHS NS065701NIH HHS NS095445NIH HHS NS116025NIH HHS P01NS087997NIH HHS R01DC011805NIH HHS R01DC012545NIH HHS R01NS026656NIH HHS R01NS088160NIH HHS TR001456NINDS NIH HHS P01 NS087997NINDS NIH HHS R01 NS026656NINDS NIH HHS R01 NS088160NINDS NIH HHS R01 NS121120NINDS NIH HHS R01 NS122943NINDS NIH HHS R01 NS124228NINDS NIH HHS U01 NS102035NINDS NIH HHS U54 NS065701NINDS NIH HHS U54 NS116025Technical University of Munich-Institute for Advanced Study
6 · The paper itself

Abstract

backgroundDespite considerable heritability, previous smaller genome-wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia.

objectiveThe objective of this study was to perform a large-scale GWAS in a well-characterized, multicenter sample of >6000 individuals to identify genetic risk factors for isolated dystonia.

methodsArray-based GWASs were performed on autosomes for 4303 dystonia participants and 2362 healthy control subjects of European ancestry with subgroup analysis based on age at onset, affected body regions, and a newly developed clinical score. Another 736 individuals were used for validation.

resultsThis GWAS identified no common genome-wide significant loci that could be replicated despite sufficient power to detect meaningful effects. Power analyses imply that the effects of individual variants are likely very small.

conclusionsModerate single-nucleotide polymorphism-based heritability indicates that common variants do not contribute to isolated dystonia in this cohort. Sequence-based GWASs (eg, by whole-genome sequencing) might help to better understand the genetic basis. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Indexed as

DystoniaGenetic Predisposition to DiseaseGenome-Wide Association StudyPolymorphism, Single NucleotideAdultDystonic DisordersFemaleHumansMaleMiddle AgedRisk Factorsage at onsetcase–controlclinical scoreGWASisolated dystonia

Identifiers

PMID39287592
PMCPMC11975433

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Registered trials

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.