Evidence map›Paper›PMID 28655586›Full record

ArticleParkinsonism & related disorders2017

Screening study of TUBB4A in isolated dystonia.

Franca Vulinovic, Susen Schaake, Aloysius Domingo, Kishore Raj Kumar, Giovanni Defazio, Pablo Mir, Kristina Simonyan, Laurie J Ozelius, Norbert Brüggemann, Sun Ju Chung and 3 more

Registry-linked trialOpen access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Parkinsonism & related disorders, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03042975 (Imaging Genetics of Laryngeal Dystonia), which is not on this map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 40% of its field
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.

NCT03042975 recruitingnot on this map

Imaging Genetics of Laryngeal Dystonia

TypeobservationalSponsorKristina SimonyanRan2017 to 2028Enrolled410ConditionsLaryngeal Dystonia, Unaffected Relatives of Laryngeal Dystonia Patients, Voice Tremor, Muscle Tension DysphoniaArmsMRI, Blood draw
3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Pooled it
  2. Rediscovery of the Tubulin β-4A p.Arg2Gly Variant in Whispering Dysphonia: A Report from Austria.Movement disorders : official journal of the Movement Disorder Society · 2025
    Article
  3. Review
  4. Article
  5. Article
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

13 authors at 7 institutions in 6 countries.

Franca VulinovicInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Susen SchaakeInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Aloysius DomingoInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany; Graduate School Lübeck, Lübeck, Germany.
Kishore Raj KumarDepartment of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital, The University of Sydney, Australia; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Australia.
Giovanni DefazioDepartment of Neurologic and Psychiatric Sciences, University of Bari, Italy.
Pablo MirUnidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.
Kristina SimonyanDepartment of Neurology, Icahn School of Medicine at Mount Sinai New York City, New York, United States.
Laurie J OzeliusDepartment of Neurology, Massachusetts General Hospital, Boston, United States.
Norbert BrüggemannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University of Lübeck, Lübeck, Germany.
Sun Ju ChungDepartment of Neurology, Asan Medical Center, University of Ulsan, Seoul, South Korea.
Aleksandar RakovicInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Katja LohmannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Christine KleinInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: christine.klein@neuro.uni-luebeck.de.
University of Lübeck · DEIcahn School of Medicine at Mount Sinai · USMassachusetts General Hospital · USUniversidad de Sevilla · ESUniversity of Bari Aldo Moro · ITUniversity of Sydney · AUUniversity of Ulsan · KR

Funding

Imaging genetics of spasmodic dysphoniaR01DC011805 · NIDCD · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Kristina Simonyan · 2012 to 2026
$8.8M
NIDCD NIH HHS R01 DC011805
6 · The paper itself

Abstract

Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum ranging from hereditary generalized dystonia with whispering dysphonia (DYT4) to the leukodystrophy hypomyelination syndrome with atrophy of the basal ganglia and cerebellum (H-ABC). To test for the contribution of TUBB4A mutations in different ethnicities (Spanish, Italian, Korean, Japanese), we screened 492 isolated dystonia cases for mutations in this gene and for the first time determined TUBB4A copy number variations in 336 dystonia patients. A potentially pathogenic rare 3bp-in-frame deletion was found in a patient with cervical dystonia but no copy number variations were detected in this study, suggesting that TUBB4A mutations exceedingly rarely contribute to the etiology of isolated dystonia.

Indexed as

AdultAgedAge of OnsetDNA Mutational AnalysisDystoniaFemaleGenetic Association StudiesHumansInternational CooperationMaleMiddle AgedMutationTubulinTUBB4A protein, humanTubulinDystoniaH-ABCLeukodystrophyTUBB4A

Identifiers

PMID28655586
PMCPMC5769152
OpenAlexW2622099615

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.