The DOI matches its Crossref record; 164 of the 171 references it cites were found in a registry or an index.
The genetics of Tourette syndrome: A review
Open accessAbstract
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 [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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Cites
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
The worldwide prevalence of ADHD: a systematic review and metaregression analysis
Polanczyk, G., de Lima, M. S., Horta, B. L., Biederman, J., & Rohde, L. A. (2007) · American Journal of Psychiatry · doi:10.1176/ajp.2007.164.6.942 · Cited by 5,346 · cited 2×
“3% for OCD [18,19], and 5% for ADHD in school age children [20]), suggesting that these disorders may also have some shared underlying etiological mechanisms with GTS.”
BackgroundComplement factor H polymorphism in age-related macular degeneration
Klein, R. J., Zeiss, C., Chew, E. Y., Tsai, J.-Y., Sackler, R. S., Haynes, C., Henning, A. K., SanGiovanni, J. P., Mane, S. M., Mayne, S. T., et al. (2005) · Science · doi:10.1126/science.1109557 · Cited by 4,492
Structural variation in the human genome
Feuk, L., Carson, A. R., & Scherer, S. W. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1767 · Cited by 2,111
Purcell, S., Cherny, S. S., & Sham, P. C. (2003) · Bioinformatics · doi:10.1093/bioinformatics/19.1.149 · Cited by 2,057
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800 · cited 1×
“In addition, rare, highly penetrant CNVs can be detected in a relatively small sample size, as demonstrated by studies of schizophrenia which consisted of about 150 individuals [63,108].”
BackgroundWang, K., Li, M., Hadley, D., Liu, R., Glessner, J., Grant, S. F. A., Hakonarson, H., & Bucan, M. (2007) · Genome Research · doi:10.1101/gr.6861907 · Cited by 1,792 · cited 1×
“Newer GWAS genotyping platforms now also have the additional benefit of containing copy-number probes to allow examination of both SNPs and CNVs in a single experiment [99,100].”
BackgroundLarge recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745 · cited 1×
“Newer methods for detection of duplications or deletions ranging from ∼1 kb to several megabases (Mb) in size, referred to as copy number variations (CNVs), have identified de novo and inherited CNVs associated with risk of many neuropsychiatric disorders [61–65].”
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666 · cited 1×
“However the ability to detect CNVs is a promising parallel approach, since these polymorphisms appear to exist both in common and rare forms and have been demonstrated to contribute to the manifestation of other psychiatric disorders such as autism [62] and schizophrenia [65].”
BackgroundRare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475
Research works printed but not linked: 4
- de la Tourette, 1885, Etude sur une affection nerveuse caracterisee par de l'indoordination motrice accompagnee d'echolalie et al copralalie, Archives or Neurology, 9, 19
- Leppert, 1996, Two loci of interest in a family with Tourette syndrome, Am J Hum Genet Suppl, 59, A225
- Barr, 1996, No evidence for a major gene effect of the dopamine D4 receptor gene in the susceptibility to Gilles de la Tourette syndrome in five Canadian families, Am J Med Genet, 67, 301, 10.1002/(SICI)1096-8628(19960531)67:3<301::AID-AJMG6>3.0.CO;2-P · DOI
- Comings, 1999, Studies of the 48 bp repeat polymorphism of the DRD4 gene in impulsive, compulsive, addictive behaviors: Tourette syndrome, ADHD, pathological gambling, and substance abuse, Am J Med Genet, 88, 358, 10.1002/(SICI)1096-8628(19990820)88:4<358::AID-AJMG13>3.0.CO;2-G · DOI
Cited by
Sorted by citations
Tourette syndrome, associated conditions and the complexities of treatment
Robertson, M. M. (2000) · Brain · doi:10.1093/brain/123.3.425 · Cited by 704
Davis, L. K., Yu, D., Keenan, C. L., Gamazon, E. R., Konkashbaev, A. I., Derks, E. M., Neale, B. M., Yang, J., Lee, S., Evans, P. D., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003864 · Cited by 331
Self-citationDichter, G. S., Damiano, C. A., & Allen, J. A. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-19 · Cited by 299
“The genetic factors underlying TS are largely unknown; however, a rare mutation in the gene SLITRK1 is associated with human TS [613,614].”
BackgroundHistidine Decarboxylase Deficiency Causes Tourette Syndrome: Parallel Findings in Humans and Mice
Castellan-Baldan, L., Williams, K. A., Gallezot, J., Pogorelov, V. M., Rapanelli, M., Crowley, M. J., Anderson, G. M., Loring, E. C., Gorczyca, R. R., Billingslea, E., et al. (2014) · Neuron · doi:10.1016/j.neuron.2013.10.052 · Cited by 256
“Causative mutations and major risk alleles have proven elusive (Bloch et al., 2011; O’Rourke et al., 2009; State, 2011).”
BackgroundEuropean clinical guidelines for Tourette Syndrome and other tic disorders. Part I: assessment
the ESSTS Guidelines Group, Cath, D. C., Hedderly, T. J., Ludolph, A. G., Stern, J. S., Murphy, T. L., Hartmann, A., Czernecki, V., Robertson, M. M., Martino, D., et al. (2011) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-011-0164-6 · Cited by 251
Metadata
- Authors
- O'Rourke, J. A., Scharf, J. M., Yu, D., & Pauls, D. L.
- Affiliations
- Harvard University (US)
- Corresponding author
- 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)
- 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
- 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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