Evidence map›Paper›PMID 38778444›Full record

ArticleMovement disorders clinical practice2024

Sex Differences in Dystonia.

Gamze Kilic-Berkmen, Laura M Scorr, Lucas McKay, Mehreen Thayani, Yuping Donsante, Joel S Perlmutter, Scott A Norris, Laura Wright, Christine Klein, Jeanne S Feuerstein and 13 more

Erratum issuedAbstract read
In one paragraph

Article in Movement disorders clinical practice, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 2 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

12 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. The epidemiology and phenomenology of non-antipsychotic-induced dystonia: a hybrid systematic-narrative review.European psychiatry : the journal of the Association of European Psychiatrists · 2025
    Pooled it
  3. Article
  4. Sex-related differences in the short and long-term outcome of internal pallidus stimulation for dystonia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Observational
  5. Review
  6. Article
  7. Somato-Cognitive Action Network in Focal Dystonia.Movement disorders : official journal of the Movement Disorder Society · 2025
    Article
  8. Article
  9. Article
  10. Sex-specific alterations of Purkinje cell firing inDystonia (Lausanne, Switzerland) · 2025
    Article
  11. Behavioral signature of trihexyphenidyl in theDystonia (Lausanne, Switzerland) · 2025
    Article
  12. Correction to "Sex Differences in Dystonia".Movement disorders clinical practice · 2024
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

23 authors.

Gamze Kilic-BerkmenDepartment of Neurology, Emory University School of Medicine, Atlanta, GA, USA.
Laura M ScorrDepartment of Neurology, Emory University School of Medicine, Atlanta, GA, USA.
Lucas McKayDepartment of Neurology, Emory University School of Medicine, Atlanta, GA, USA.
Mehreen ThayaniDepartment of Neurology, Emory University School of Medicine, Atlanta, GA, USA.
Yuping DonsanteDepartment of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, USA.
Joel S PerlmutterDepartment of Neurology, Radiology, Neuroscience, Physical Therapy and Occupational Therapy, Washington University School of Medicine, St Louis, MO, USA.
Scott A NorrisDepartment of Neurology and Radiology, Washington University School of Medicine, St Louis, MO, USA.
Laura WrightDepartment of Neurology, Washington University School of Medicine, St Louis, MO, USA.
Christine KleinInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Jeanne S FeuersteinDepartment of Neurology, University of Colorado, Aurora, CO, USA.
Abhimanyu MahajanDepartment of Neurological Sciences, Rush Parkinson's Disease and Movement Disorders Program, Chicago, IL, USA.
Aparna Wagle-ShuklaFixel Institute for Neurological Disease, University of Florida Department of Neurology, University of Florida, Gainesville, FL, USA.
Irene MalatyFixel Institute for Neurological Disease, University of Florida Department of Neurology, University of Florida, Gainesville, FL, USA.
Mark S LeDouxDepartment of Psychology, University of Memphis, Memphis, TN, USA.
Sarah Pirio-RichardsonDepartment of Neurology, University of New Mexico/New Mexico VA Healthcare System, Albuquerque, NM, USA.
Alexander PantelyatDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Emile MoukheiberDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Samuel FrankBeth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
William OndoMovement Disorders Clinic, Methodist Neurological Institute, Houston, TX, USA.
Rachel Saunders-PullmanDepartment of Neurology, Icahn School of Medicine at Mount Sinai, and Mount Sinai Beth Israel, New York, NY, USA.
Katja LohmannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Ellen J HessDepartment of Neurology, Emory University School of Medicine, Atlanta, GA, USA.
H A JinnahDepartment of Neurology, Emory University School of Medicine, Atlanta, GA, USA.

Funding

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
The Role of Striatal Cholinergic Interneurons in DystoniaR01NS124789 · NINDS · WASHINGTON UNIVERSITY · PI Scott Allen Norris · 2022 to 2026
$3.0M
Dystonia CoalitionU54TR001456 · NCATS · EMORY UNIVERSITY · PI JINNAH, HYDER A · 2015 to 2016
$2.5M
Neuronal Mechanisms Underlying Sex Differences in DystoniaR01NS124764 · NINDS · EMORY UNIVERSITY · PI HESS, ELLEN J. · 2022 to 2025
$2.1M
Neuronal mechanisms underlying sex differences in dystoniaR56NS124764 · NINDS · EMORY UNIVERSITY · PI HESS, ELLEN J. · 2021 to 2021
$539k
NCATS NIH HHS U54 TR001456NIH/NCATS TR001456NIH/NINDS NS065701NIH/NINDS NS116025NIH/NINDS NS124764NINDS NIH HHS R01 NS124764NINDS NIH HHS R01 NS124789NINDS NIH HHS R56 NS124764NINDS NIH HHS U54 NS065701NINDS NIH HHS U54 NS116025
6 · The paper itself

Abstract

backgroundPrior studies have indicated that female individuals outnumber male individuals for certain types of dystonia. Few studies have addressed factors impacting these sex differences or their potential biological mechanisms.

objectivesTo evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences.

methodsData from individuals with various types of dystonia were analyzed in relation to sex. Data came from two different sources. One source was the Dystonia Coalition database, which contains predominantly idiopathic adult-onset focal and segmental dystonias. The second source was the MDSGene database, which contains predominantly early-onset monogenic dystonias.

resultsThe 3222 individuals from the Dystonia Coalition included 71% female participants and 29% male participants for an overall female-to-male ratio (F:M) of 2.4. This ratio varied according to body region affected and whether dystonia was task-specific. The female predominance was age-dependent. Sex did not have a significant impact on co-existing tremor, geste antagoniste, depression or anxiety. In the 1377 individuals from the MDSGene database, female participants outnumbered male participants for some genes (GNAL, GCH1, and ANO3) but not for other genes (THAP1, TH, and TOR1A).

conclusionsThese results are in keeping with prior studies that have indicated female individuals outnumber male individuals for both adult-onset idiopathic and early onset monogenic dystonias. These results extend prior observations by revealing that sex ratios depend on the type of dystonia, age, and underlying genetics.

Indexed as

DystoniaAdolescentAdultAgedAnoctaminsApoptosis Regulatory ProteinsChildDNA-Binding ProteinsDystonic DisordersFemaleHumansMaleMiddle AgedMolecular ChaperonesNuclear ProteinsSex CharacteristicsANO3 protein, humanAnoctaminsApoptosis Regulatory ProteinsDNA-Binding ProteinsMolecular ChaperonesNuclear ProteinsTHAP1 protein, humanTOR1A protein, humanblepharospasmdystoniasex differencesspasmodic dysphoniawriter's cramp

Identifiers

PMID38778444
PMCPMC11329567

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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.