Evidence map›Paper›PMID 22948383›Full record

ReviewTranslational psychiatry2012

Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism.

R A Clarke, S Lee, V Eapen

Erratum issuedOpen access · goldAbstract readReview
In one paragraph

Review in Translational psychiatry, 2012. 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 64 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
64citing papers in PubMed, 2 pooled it
4.1field-weighted citation impact, top 6% 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

64 citing papers in PubMed, 2 syntheses or guidelines pooled it, 117 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  8. Review
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  10. Sex-specific genetic architecture of late-life memory performance.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
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  15. Genes · 2021
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  18. The Multi-Targeting Ligand ST-2223 with Histamine HInternational journal of molecular sciences · 2021
    Article
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  20. Article

4 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

  • Erratum issued
5 · Who and what money

Authors and funding

3 authors at 3 institutions in 1 country.

R A ClarkeDepartment of Human Genetics, Ingham Institute, School of Medicine, University of Western Sydney, Sydney, NSW, Australia.
S Lee
V Eapen
Ingham Institute · AUUNSW Sydney · AUWestern Sydney University · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tourette syndrome (TS) is a highly heritable neuropsychiatric disorder characterised by motor and vocal tics. Despite decades of research, the aetiology of TS has remained elusive. Recent successes in gene discovery backed by rapidly advancing genomic technologies have given us new insights into the genetic basis of the disorder, but the growing collection of rare and disparate findings have added confusion and complexity to the attempts to translate these findings into neurobiological mechanisms resulting in symptom genesis. In this review, we explore a previously unrecognised genetic link between TS and a competing series of trans-synaptic complexes (neurexins (NRXNs), neuroligins (NLGNs), leucine-rich repeat transmembrane proteins (LRRTMs), leucine rich repeat neuronals (LRRNs) and cerebellin precursor 2 (CBLN2)) that links it with autism spectrum disorder through neurodevelopmental pathways. The emergent neuropathogenetic model integrates all five genes so far found to be uniquely disrupted in TS into a single pathogenetic chain of events described in context with clinical and research implications.

Indexed as

alpha CateninAutistic DisorderCalcium-Binding ProteinsCarrier ProteinsCell Adhesion Molecules, NeuronalDevelopmental DisabilitiesEndopeptidasesHumansMembrane ProteinsModels, BiologicalModels, PsychologicalNerve Tissue ProteinsNeural Cell Adhesion MoleculesTourette Syndromealpha CateninCalcium-Binding ProteinsCarrier ProteinsCell Adhesion Molecules, NeuronalCNTNAP2 protein, humanCTNNA1 protein, humanEndopeptidasesIMMP2L protein, humanMembrane ProteinsNerve Tissue ProteinsNeural Cell Adhesion MoleculesNLGN4X protein, humanNRXN1 protein, human

Identifiers

PMID22948383
PMCPMC3565204
OpenAlexW1985187126

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.