Evidence map›Paper›PMID 27536211›Full record

ArticleFrontiers in neuroscience2016

The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery.

Marianthi Georgitsi, A Jeremy Willsey, Carol A Mathews, Matthew State, Jeremiah M Scharf, Peristera Paschou

Open access · goldAbstract read
In one paragraph

Article in Frontiers in neuroscience, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 1 pooled it
10.3field-weighted citation impact, top 2% 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

30 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. The role of neuroactive steroids in tic disorders.Neuroscience and biobehavioral reviews · 2024
    Review
  7. Review
  8. Article
  9. Review
  10. Review
  11. Article
  12. Review
  13. A Comprehensive Review of Tic Disorders in Children.Journal of clinical medicine · 2021
    Review
  14. Article
  15. Article
  16. Article
  17. Review
  18. Networks in the Field of Tourette Syndrome.Frontiers in neurology · 2021
    Review
  19. Advances in the Treatment of Tourette's Disorder.Current psychiatry reports · 2019
    Review
  20. 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

6 authors at 5 institutions in 2 countries.

Marianthi GeorgitsiDepartment of Molecular Biology and Genetics, Democritus University of ThraceAlexandroupoli, Greece; Department of Medicine, Aristotle University of ThessalonikiThessaloniki, Greece.
A Jeremy WillseyDepartment of Psychiatry, University of California, San Francisco San Francisco, CA, USA.
Carol A MathewsDepartment of Psychiatry, University of Florida School of Medicine Gainesville, FL, USA.
Matthew StateDepartment of Psychiatry, University of California, San Francisco San Francisco, CA, USA.
Jeremiah M ScharfDepartments of Neurology and Psychiatry, Massachusetts General Hospital, Harvard Medical School Boston, MA, USA.
Peristera PaschouDepartment of Molecular Biology and Genetics, Democritus University of Thrace Alexandroupoli, Greece.
University of California, San Francisco · USAristotle University of Thessaloniki · GRDemocritus University of Thrace · GRMassachusetts General Hospital · USUniversity of Florida · US

Funding

A Genetic Linkage Study of GTSU01NS040024 · NINDS · TOURETTE ASSOCIATION OF AMERICA, INC. · PI SCHARF, JEREMIAH M · 2007 to 2012
$8.0M
Refining the Tourette Syndrome phenotype across diagnoses to aid gene discoveryR01MH096767 · NIMH · UNIVERSITY OF FLORIDA · PI MATHEWS, CAROL A · 2013 to 2015
$1.2M
Advancing Tourette Syndrome genetics using bioinformatics and genome biologyK02NS085048 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI SCHARF, JEREMIAH M · 2014 to 2018
$1.0M
1/8-Collaborative genomic studies of Tourette DisorderR01MH092293 · NIMH · RUTGERS, THE STATE UNIV OF N.J. · PI HEIMAN, GARY A., TISCHFIELD, JAY ARNOLD · 2011 to 2013
$510k
1st World Congress on Tourette Syndrome and Tic DisordersR13NS095344 · NINDS · TOURETTE ASSOCIATION OF AMERICA, INC. · PI SCHARF, JEREMIAH M · 2015 to 2015
$10k
NIMH NIH HHS R01 MH092293NIMH NIH HHS R01 MH096767NINDS NIH HHS K02 NS085048NINDS NIH HHS R13 NS095344NINDS NIH HHS U01 NS040024
6 · The paper itself

Abstract

Gilles de la Tourette Syndrome (TS) is a childhood-onset neurodevelopmental disorder that is characterized by multiple motor and phonic tics. It has a complex etiology with multiple genes likely interacting with environmental factors to lead to the onset of symptoms. The genetic basis of the disorder remains elusive. However, multiple resources and large-scale projects are coming together, launching a new era in the field and bringing us on the verge of discovery. The large-scale efforts outlined in this report are complementary and represent a range of different approaches to the study of disorders with complex inheritance. The Tourette Syndrome Association International Consortium for Genetics (TSAICG) has focused on large families, parent-proband trios and cases for large case-control designs such as genomewide association studies (GWAS), copy number variation (CNV) scans, and exome/genome sequencing. TIC Genetics targets rare, large effect size mutations in simplex trios, and multigenerational families. The European Multicentre Tics in Children Study (EMTICS) seeks to elucidate gene-environment interactions including the involvement of infection and immune mechanisms in TS etiology. Finally, TS-EUROTRAIN, a Marie Curie Initial Training Network, aims to act as a platform to unify large-scale projects in the field and to educate the next generation of experts. Importantly, these complementary large-scale efforts are joining forces to uncover the full range of genetic variation and environmental risk factors for TS, holding great promise for identifying definitive TS susceptibility genes and shedding light into the complex pathophysiology of this disorder.

Indexed as

collaborative studiesgene-environment interactionsgenetics of complex disordersGilles de la Tourette syndromeGWAS (genomewide association study)neurodevelopmental disordersnext generation sequencing

Identifiers

PMID27536211
PMCPMC4971013
OpenAlexW2495947776

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.