The genetics of Tourette syndrome: A review

O'Rourke, Julia A.; Scharf, Jeremiah M.; Yu, Dongmei; Pauls, David L.

doi:10.1016/j.jpsychores.2009.06.006

Cited by 212Obsessive-Compulsive Spectrum DisordersGenetic Associations and EpidemiologyGenetics and Neurodevelopmental Disorders

The genetics of Tourette syndrome: A review

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O'Rourke, Julia A., Scharf, Jeremiah M., Yu, Dongmei, Pauls, David L.·2009·Journal of Psychosomatic Research

DOI 10.1016/j.jpsychores.2009.06.006PMC PMC2778609

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Abstract

Objectives This article summarizes and evaluates recent advances in the genetics of Gilles de la Tourette syndrome (GTS).Methods This is a review of recent literature focusing on (1) the genetic etiology of GTS; (2) common genetic components of GTS, attention deficit hyperactivity disorder (ADHD), and obsessive compulsive disorder (OCD); (3) recent linkage studies of GTS; (4) chromosomal translocations in GTS; and (5) candidate gene studies.Results Family, twin, and segregation studies provide strong evidence for the genetic nature of GTS. GTS is a heterogeneous disorder with complex inheritance patterns and phenotypic manifestations. Family studies of GTS and OCD indicate that an early-onset form of OCD is likely to share common genetic factors with GTS. While there apparently is an etiological relationship between GTS and ADHD, it appears that the common form of ADHD does not share genetic factors with GTS. The largest genome wide linkage study to date observed evidence for linkage on chromosome 2p23.2 (P=3.8x10(-5)). No causative candidate genes have been identified, and recent studies suggest that the newly identified candidate gene SLITRK1 is not a significant risk gene for the majority of individuals with GTS.Conclusion The genetics of GTS are complex and not well understood. The Genome Wide Association Study (GWAS) design can hopefully overcome the limitations of linkage and candidate gene studies. However, large-scale collaborations are needed to provide enough power to utilize the GWAS design for discovery of causative mutations. Knowledge of susceptibility mutations and biological pathways involved should eventually lead to new treatment paradigms for GTS.

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A rare mutation in the gene SLITRK1 is associated with human TS.
“a rare mutation in the gene SLITRK1 is associated with human TS [613,614].”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [614]

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Authors: O'Rourke, J. A., Scharf, J. M., Yu, D., & Pauls, D. L.
Affiliations: Harvard University (US)
Corresponding author: Pauls, David L.
ORCID: Scharf, Jeremiah M.
Yu, Dongmei
Pauls, David L.
Venue: Journal of Psychosomatic Research
Publisher: Elsevier BV
Published: 2009-12
Volume: 67
Issue: 6
Pages: 533-545
ISSN: 0022-3999 (ISSN-L)
DOI: 10.1016/j.jpsychores.2009.06.006
PMC: PMC2778609
OpenAlex: W2041237576
Cited by: 212
References: 171
Citations by year: 2026: 3 · 2025: 31 · 2024: 2 · 2023: 4 · 2022: 6 · 2021: 10 · 2020: 16 · 2019: 6 · 2018: 5 · 2017: 10 · 2016: 9 · 2015: 13 · 2014: 13 · 2013: 21 · 2012: 23
FWCI: 2.74
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Journal of Psychosomatic Research (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institute of Neurological Disorders and Stroke (NS40024, R01NS016648, U01NS040024, R01NS040024, NS-16648)
Topics: Social Sciences › Psychology › Clinical Psychology › Obsessive-Compulsive Spectrum Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: Tourette syndrome, genetic etiology, attention deficit hyperactivity disorder, obsessive-compulsive disorder, linkage analysis, SLITRK1, chromosomal translocation, candidate genes, genome-wide association study, genetic heterogeneity
MeSH terms: Alleles, Attention Deficit Disorder with Hyperactivity, Genotype, Tourette Syndrome, Humans, Genetic Linkage, Obsessive-Compulsive Disorder, Genome-Wide Association Study

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