Evidence map›Paper›PMID 33612126›Full record

ReviewPsychological medicine2021

Genetic architecture of Tourette syndrome: our current understanding.

Laura Domènech, Carolina Cappi, Matt Halvorsen

Open access · greenAbstract readReview
In one paragraph

Review in Psychological medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 2 pooled it
1.8field-weighted citation impact, top 15% 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.

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, 2 syntheses or guidelines pooled it, 15 citations in OpenAlex.

  1. Pooled it
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  3. Review
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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

3 authors at 3 institutions in 2 countries.

Laura DomènechPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Carolina CappiDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Matt HalvorsenDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0002-6707-2418
Broad Institute · USUniversidade de São Paulo · BRUniversity of North Carolina at Chapel Hill · US

Funding

A GENETIC LINKAGE STUDY OF GTSR01NS040024 · NINDS · TOURETTE SYNDROME ASSOCIATION, INC · PI PAULS, DAVID L · 2000 to 2004
$9.5M
GENETICS OF TOURETTE SYNDROMER01NS016648 · NINDS · YALE UNIVERSITY · PI PAULS, DAVID L · 1985 to 2009
$9.0M
A Genetic Linkage Study of GTSU01NS040024 · NINDS · TOURETTE ASSOCIATION OF AMERICA, INC. · PI SCHARF, JEREMIAH M · 2007 to 2012
$8.0M
Large-Scale Collaborative Genetic and Epigenetic Studies of Tourette SyndromeR01NS105746 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI MATHEWS, CAROL A, PASCHOU, PERISTERA · 2019 to 2023
$3.1M
Acceleration of risk gene discovery for Tic Disorders through large-scale collaborationR21MH134170 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HALVORSEN, MATTHEW · 2023 to 2023
$424k
NIMH NIH HHS R21 MH134170NINDS NIH HHS R01 NS016648NINDS NIH HHS R01 NS040024NINDS NIH HHS R01 NS105746NINDS NIH HHS U01 NS040024
6 · The paper itself

Abstract

Tourette syndrome (TS) is a severe neuropsychiatric disorder characterized by recurrent, involuntary physical and verbal tics. With a prevalence as high as 1% in children, a deeper understanding of the etiology of the disorder and contributions to risk is critical. Here, we cover the current body of knowledge in scientific literature regarding the genetics of TS. We first review the history and diagnostic criteria for TS cases. We then cover the prevalence, and begin to address the etiology of the disorder. We highlight long-standing evidence for a genetic contribution to TS risk from epidemiology studies focused on twins, families, and population-scale data. Finally, we summarize current large-scale genetic studies of TS along specific classes of genetic variation, including common variation, rare copy number variation, and de novo variation that impact protein-coding sequence. Although these variants do not account for the entirety of TS genetic risk, current evidence is clear that each class of variation is a factor in the overall risk architecture across TS cases.

Indexed as

Molecular EpidemiologyDNA Copy Number VariationsHumansPrevalenceTourette Syndromegeneticsgenetic variantsgenomicsreviewTouretteTS

Identifiers

PMID33612126
PMCPMC10763736
OpenAlexW3130269136

What OpenQuestion holds

Textmetadata
LicenceTDM
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.