Evidence map›Paper›PMID 24295621›Full record

ReviewInternational review of neurobiology2013

Genetic susceptibility and neurotransmitters in Tourette syndrome.

Peristera Paschou, Thomas V Fernandez, Frank Sharp, Gary A Heiman, Pieter J Hoekstra

Registry-linked trialAbstract readReview
In one paragraph

Review in International review of neurobiology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04794413 (An Open Label, Proof-of-Principle, Pilot Study to Evaluate Pimavanserin for the Treatment of Motor and Behavioral Symptoms of Tourette Syndrome), which is not on this map. Cited by 28 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 3 pooled it
8.9field-weighted citation impact, top 1% 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.

NCT04794413 early_phase1completednot on this mapstarted 2018, after this paper: background citation

An Open Label, Proof-of-Principle, Pilot Study to Evaluate Pimavanserin for the Treatment of Motor and Behavioral Symptoms of Tourette Syndrome

TypeinterventionalSponsorJoseph JankovicRan2018 to 2021Enrolled10ConditionsTourette Syndrome, Tardive DyskinesiaArmsPimavanserin
3 · Its place in the literature

Who cites it

28 citing papers in PubMed, 3 syntheses or guidelines pooled it, 59 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. Tourette syndrome.Nature reviews. Disease primers · 2026
    Review
  6. Tics Induced by Mirtazapine in an Adolescent.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2025
    Article
  7. Article
  8. Review
  9. Review
  10. Review
  11. Article
  12. Review
  13. Review
  14. Article
  15. Article
  16. Article
  17. The Multi-Targeting Ligand ST-2223 with Histamine HInternational journal of molecular sciences · 2021
    Article
  18. The Dual-Active Histamine HInternational journal of molecular sciences · 2020
    Article
  19. Treatment of tics associated with Tourette syndrome.Journal of neural transmission (Vienna, Austria : 1996) · 2020
    Review
  20. 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

5 authors at 5 institutions in 3 countries.

Peristera PaschouDepartment of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupoli, Greece.
Thomas V Fernandez
Frank Sharp
Gary A Heiman
Pieter J Hoekstra
Democritus University of Thrace · GRRutgers, The State University of New Jersey · USUniversity of California, Davis · USUniversity of Groningen · NLYale University · US

Funding

Research Training for Medical Students & Physician-Scientists in Child PsychiatryR25MH077823 · NIMH · YALE UNIVERSITY · PI ANDRES S MARTIN · 2006 to 2026
$4.0M
Genomic Investigations of Tourette's DisorderK08MH099424 · NIMH · YALE UNIVERSITY · PI FERNANDEZ, THOMAS V · 2012 to 2015
$718k
NIMH NIH HHS K08 MH099424NIMH NIH HHS L40 MH081784NIMH NIH HHS R25 MH077823
6 · The paper itself

Abstract

Family studies have consistently shown that Tourette syndrome (TS) is a familial disorder and twin studies have clearly indicated a genetic contribution in the etiology of TS. Whereas early segregation studies of TS suggested a single-gene autosomal dominant disorder, later studies have pointed to more complex models including additive and multifactorial inheritance and likely interaction with genetic factors. While the exact cellular and molecular base of TS is as yet elusive, neuroanatomical and neurophysiological studies have pointed to the involvement of cortico-striato-thalamocortical circuits and abnormalities in dopamine, glutamate, gamma-aminobutyric acid, and serotonin neurotransmitter systems, with the most consistent evidence being available for involvement of dopamine-related abnormalities, that is, a reduction in tonic extracellular dopamine levels along with hyperresponsive spike-dependent dopamine release, following stimulation. Genetic and gene expression findings are very much supportive of involvement of these neurotransmitter systems. Moreover, intriguingly, genetic work on a two-generation pedigree has opened new research pointing to a role for histamine, a so far rather neglected neurotransmitter, with the potential of the development of new treatment options. Future studies should be aimed at directly linking neurotransmitter-related genetic and gene expression findings to imaging studies (imaging genetics), which enables a better understanding of the pathways and mechanisms through which the dynamic interplay of genes, brain, and environment shapes the TS phenotype.

Indexed as

Genetic Predisposition to DiseaseHumansNeurotransmitter AgentsTourette SyndromeNeurotransmitter AgentsDopamineGABAGene expressionGeneticsGlutamateHistamineNeurotransmittersTourette syndrome

Identifiers

PMID24295621
PMCPMC4471172
OpenAlexW2410273855

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.