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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
Attention-deficit hyperactivity disorder
Biederman, J., & Faraone, S. V. (2005) · The Lancet · doi:10.1016/s0140-6736(05)66915-2 · Cited by 1,463
Genetic Mapping in Human Disease
Altshuler, D., Daly, M. J., & Lander, E. S. (2008) · Science · doi:10.1126/science.1156409 · Cited by 1,452 · cited 3×
“Based on the hypothesis that a proportion of the genetic susceptibility for common diseases may be caused by common genetic variants that arose early in human history and thus are shared across members of a population derived from a common set of ancestors (the common-disease, common variant or CDCV hypothesis), this…”
BackgroundResultThe Epidemiology of Obsessive-Compulsive Disorder in Five US Communities
Karno, M. (1988) · Archives of General Psychiatry · doi:10.1001/archpsyc.1988.01800360042006 · Cited by 1,340 · cited 1×
“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.”
BackgroundAre Rare Variants Responsible for Susceptibility to Complex Diseases?
Pritchard, J. K. (2001) · The American Journal of Human Genetics · doi:10.1086/321272 · Cited by 1,197 · cited 1×
“As described above, GWAS are designed specifically to detect association of common disease variants (typically with allele frequencies ≥5% in a population) [106]; GWAS have essentially no power to detect multiple rare variants in either the same gene or in different genes (the multiple rare variants hypothesis) [107].”
BackgroundOn the allelic spectrum of human disease
Reich, D. E., & Lander, E. S. (2001) · Trends in Genetics · doi:10.1016/s0168-9525(01)02410-6 · Cited by 1,185 · cited 1×
“As described above, GWAS are designed specifically to detect association of common disease variants (typically with allele frequencies ≥5% in a population) [106]; GWAS have essentially no power to detect multiple rare variants in either the same gene or in different genes (the multiple rare variants hypothesis) [107].”
BackgroundA family study of obsessive–compulsive disorder
(1995) · American Journal of Psychiatry · doi:10.1176/ajp.152.1.76 · Cited by 1,022 · cited 4×
“2% of the relatives of OCD probands without tics [28], though this finding was not fully replicated in a subsequent sample [31].”
BackgroundResultInfluentialSelf-citationSequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
Abelson, J. F., Kwan, K. Y., O'Roak, B. J., Baek, D. Y., Stillman, A. A., Morgan, T. M., Mathews, C. A., Pauls, D. L., Rašin, M.-R., Gunel, M., et al. (2005) · Science · doi:10.1126/science.1116502 · Cited by 940 · cited 1×
“These variants were absent from 3,600 and 4,296 control chromosomes respectively [85].”
BackgroundSelf-citationIntegrated detection and population-genetic analysis of SNPs and copy number variation
McCarroll, S. A., Kuruvilla, F. G., Korn, J. M., Cawley, S., Nemesh, J., Wysoker, A., Shapero, M. H., de Bakker, P. I. W., Maller, J. B., Kirby, A., et al. (2008) · Nature Genetics · doi:10.1038/ng.238 · Cited by 936 · 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].”
BackgroundFréeman, R. D., Fast, D. K., Burd, L., Kerbeshian, J., Robertson, M. M., & Sandor, P. (2000) · Developmental Medicine & Child Neurology · doi:10.1017/s0012162200000839 · Cited by 925
A HapMap harvest of insights into the genetics of common disease
Manolio, T. A., Brooks, L. D., & Collins, F. S. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34772 · Cited by 889 · cited 1×
“Based on the hypothesis that a proportion of the genetic susceptibility for common diseases may be caused by common genetic variants that arose early in human history and thus are shared across members of a population derived from a common set of ancestors (the common-disease, common variant or CDCV hypothesis), this…”
BackgroundGenome-wide association analysis identifies 20 loci that influence adult height
Initiative, D. G., Weedon, M. N., The Wellcome Trust Case Control Consortium, Cambridge GEM Consortium, Lango, H., Lindgren, C. M., Wallace, C., Evans, D. M., Mangino, M., Freathy, R. M., et al. (2008) · Nature Genetics · doi:10.1038/ng.121 · Cited by 826
Whole-genome association study of bipolar disorder
Sklar, P. B., Smoller, J. W., Fan, J., Ferreira, M. A. R., Perlis, R. H., Chambert, K., Nimgaonkar, V. L., McQueen, M. B., Faraone, S. V., Kirby, A. W., et al. (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002151 · Cited by 705 · cited 1×
“A recent genome-wide association analysis of bipolar disorder, which combined three datasets [109–111] totaling over 4300 cases and 6200 controls [109], detected two markers with genome wide significant association.”
BackgroundEstimation of significance thresholds for genomewide association scans
Dudbridge, F., & Gusnanto, A. (2008) · Genetic Epidemiology · doi:10.1002/gepi.20297 · Cited by 703 · cited 1×
“05 significance level for ~ 1million independent tests performed in a GWAS [162].”
MethodThe Cross National Epidemiology of obsessive-compulsive disorder
Weisman, M. M., Bland, R. C., CANINO, G. J., Greenwald, S., Hwu, H., Lee, C. K., Newman, S. C., Browne, M. A. O., Rubio-Stipec, M., WICKRAMARATNE, P. J., et al. (1994) · Max Planck Institute for Plasma Physics · Cited by 688
Many sequence variants affecting diversity of adult human height
Gudbjartsson, D. F., Walters, G. B., Þorleifsson, G., Stefánsson, H., Halldórsson, B. V., Zusmanovich, P., Sulem, P., Thorlacius, S., Gylfason, A., Steinberg, S., et al. (2008) · Nature Genetics · doi:10.1038/ng.122 · Cited by 675 · cited 1×
“On the other hand, in order to detect alleles with modest effect sizes, tens of thousands of cases and controls could be needed, as demonstrated by studies on human height variation with a combined sample size of ~63,000 individuals [102–104].”
BackgroundCopy-number variations associated with neuropsychiatric conditions
Cook Jr, E. H., & Scherer, S. W. (2008) · Nature · doi:10.1038/nature07458 · Cited by 659
A Family Study of Obsessive-compulsive Disorder
Nestadt, G., Samuels, J., Riddle, M., Bienvenu, O. J., Liang, K.-Y., LaBuda, M., Walkup, J., Grados, M., & Hoehn-Saric, R. (2000) · Archives of General Psychiatry · doi:10.1001/archpsyc.57.4.358 · Cited by 657 · cited 1×
“2% of the relatives of OCD probands without tics [28], though this finding was not fully replicated in a subsequent sample [31].”
ResultAssociation 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., Sæmundsen, E., Stefánsson, H., Ferreira, M. A. R., Green, T. J., et al. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000316305.61461.6f · Cited by 647
Identification of ten loci associated with height highlights new biological pathways in human growth
Initiative, T. D. G., Lettre, G., FUSION, KORA, The Prostate, L. C. A. O. C. S. T., Study, T. N. H., SardiNIA, Jackson, A., Gieger, C., Schumacher, F. R., et al. (2008) · Nature Genetics · doi:10.1038/ng.125 · Cited by 599 · cited 1×
“On the other hand, in order to detect alleles with modest effect sizes, tens of thousands of cases and controls could be needed, as demonstrated by studies on human height variation with a combined sample size of ~63,000 individuals [102–104].”
BackgroundThe Dopamine D2 Receptor Locus as a Modifying Gene in Neuropsychiatric Disorders
Comings, D. E. (1991) · JAMA: The Journal of the American Medical Association · doi:10.1001/jama.1991.03470130073032 · Cited by 587
Gilles de la Tourette's Syndrome and Obsessive-Compulsive Disorder
Pauls, D. L. (1986) · Archives of General Psychiatry · doi:10.1001/archpsyc.1986.01800120066013 · Cited by 573 · cited 1×
“Pauls and colleagues reported increased rates of OCD without tics among relatives of GTS probands even when the probands did not have OCD themselves [25].”
BackgroundSelf-citationEmery and Rimoin's Principles and Practice of Medical Genetics
Rimoin, D. L. (1997) · Cited by 523
The Inheritance of Gilles de la Tourette's Syndrome and Associated Behaviors
Pauls, D. L., & Leckman, J. F. (1986) · New England Journal of Medicine · doi:10.1056/nejm198610163151604 · Cited by 490 · cited 2×
“Results from segregation analyses of family studies have been consistent with the hypothesis that GTS is genetically transmitted [7,8,26,41–49].”
ResultSelf-citationWeissman, M. M., Bland, R. C., CANINO, G. J., Greenwald, S., Hwu, H., Lee, C. K., Newman, S. C., Oakley‐Browne, M., Rubio-Stipec, M., & WICKRAMARATNE, P. J. (1994) · PubMed · Cited by 486
Sizing up human height variation
Visscher, P. M. (2008) · Nature Genetics · doi:10.1038/ng0508-489 · Cited by 474 · cited 1×
“4 cm per allele, indicating that an even larger sample size maybe needed to detect common, small-effect alleles responsible for the residual population variance [105].”
BackgroundClinical Genetic Testing for Patients With Autism Spectrum Disorders
Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., Sobeih, M. M., Caronna, E. B., Miller, K. J., Frazier, J. A., Silverstein, I., Picker, J., et al. (2010) · Pediatrics · doi:10.1542/peds.2009-1684 · Cited by 394
A Twin Study of Tourette Syndrome
Price, R. A. (1985) · Archives of General Psychiatry · doi:10.1001/archpsyc.1985.01790310077011 · Cited by 352 · cited 2×
“The largest study included 30 monozygotic and 13 dizygotic pairs of twins [53].”
BackgroundMethodTic disorders and ADHD: answers from a world-wide clinical dataset on Tourette syndrome
Freeman, R. D., & Tourette Syndrome International Database Consortium (2007) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-007-1003-7 · Cited by 318 · cited 2×
“Obsessive Compulsive Disorder (OCD) and Attention Deficit Hyperactivity Disorder (ADHD) are the most common GTS-related comorbidities, each affecting over 50% of GTS individuals [11, 14,16,17].”
BackgroundResultA Family Study of Gilles de la Tourette Syndrome
Pauls, D. L., Raymond, C. L., Stevenson, J. M., & Leckman, J. F. (2022) · Routledge eBooks · doi:10.4324/9780203822937-6 · Cited by 317
Self-citationTics and Tourette's disorder: a 2- to 7-year follow-up of 54 obsessive- compulsive children
Leonard, H. L., Lenane, M., Swedo, S. E., Rettew, D. C., Gershon, E. S., & RAPOPORT, J. L. (1992) · American Journal of Psychiatry · doi:10.1176/ajp.149.9.1244 · Cited by 316 · cited 1×
“Furthermore, individuals with early onset of OCD appear more likely to have a tic disorder than individuals with adult-onset OCD [28,30], and relatives of female OCD probands have a greater risk of developing tic disorders [28].”
BackgroundD2 and D4 dopamine receptor polymorphisms and personality
Noble, E. P., Ozkaragoz, T. Z., Ritchie, T. L., Zhang, X., Belin, T. R., & Sparkes, R. S. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980508)81:3 · Cited by 292
Verkerk, A., Mathews, C., Joosse, M., Eussen, B., Heutink, P., & Oostra, B. (2003) · Genomics · doi:10.1016/s0888-7543(03)00097-1 · Cited by 237 · cited 1×
“Two children with GTS, OCD, and mental retardation had an insertion of 2p21-23 within 7q35-36, resulting in trisomy of 2p21-23 and disruption of 7q35-36 [80].”
BackgroundComings, D. E., & Comings, B. G. (1987) · Europe PMC (PubMed Central) · Cited by 233
Hyde, T. M., Aaronson, B. A., RANDOLPH, C. C., Rickler, K. C., & Weinberger, D. R. (1992) · Neurology · doi:10.1212/wnl.42.3.652 · Cited by 221 · cited 1×
“In a second smaller study of 16 pairs of monozygotic twins, 56% of MZ twins were concordant for GTS and 94% were concordant for tic disorders [54].”
Walkup, J. T., Labuda, M. C., Singer, H. S., Brown, J. E., Riddle, M. A., & Hurko, O. (1996) · PubMed Central · Cited by 203
Faraone, S. V., Biederman, J., & Monuteaux, M. C. (2000) · Genetic Epidemiology · doi:10.1002/(sici)1098-2272(200001)18:1 · Cited by 196
Grados, M. A., Riddle, M. A., SAMUELS, J. F., Liang, K., Hoehn‐Saric, R., Bienvenu, O. J., Walkup, J. T., Song, D., & Nestadt, G. (2001) · Biological Psychiatry · doi:10.1016/s0006-3223(01)01074-5 · Cited by 195 · cited 1×
“It has been observed that childhood onset OCD in probands is associated with greater rates of GTS and tics in their relatives [28,29].”
BackgroundPsychopathology in a Swedish Population of School Children With Tic Disorders
Khalifa, N., & von Knorring, A. (2006) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/01.chi.0000251210.98749.83 · Cited by 192 · cited 3×
“Obsessive Compulsive Disorder (OCD) and Attention Deficit Hyperactivity Disorder (ADHD) are the most common GTS-related comorbidities, each affecting over 50% of GTS individuals [11, 14,16,17].”
BackgroundResultDisentangling the Overlap between Tourette's Disorder and ADHD
Spencer, T. J., Biederman, J., CRAWFORD, M. H., O’Donnell, D. A., Wilens, T. E., Faraone, S. V., Coffey, B. J., & GELLER, D. A. (1998) · Journal of Child Psychology and Psychiatry · doi:10.1111/1469-7610.00406 · Cited by 192 · cited 1×
“These results suggest that there may be a GTS/OCD/ADHD familial subtype, which might be associated with an increased genetic burden and could represent a more severe form of GTS [37].”
BackgroundEvidence for Autosomal Dominant Transmission in Tourette's Syndrome
Eapen, V., Pauls, D. L., & Robertson, M. M. (1993) · The British Journal of Psychiatry · doi:10.1192/bjp.162.5.593 · Cited by 188
Self-citationPauls, D. L., Leckman, J. F., & Cohen, D. J. (1993) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199309000-00025 · Cited by 186 · cited 2×
“In other words, rates of ADHD alone were not elevated in the relatives of GTS probands who did not themselves also have ADHD, suggesting that the “pure” form of ADHD is not present at an increased frequency in these families [2,12,35], but instead exists only when these disorders co-occur in the same individual.”
BackgroundResultSelf-citationDisruption of a Novel Gene (IMMP2L) by a Breakpoint in 7q31 Associated with Tourette Syndrome
Petek, E., Windpassinger, C., Vincent, J. B., Cheung, J., Boright, A. P., Scherer, S. W., Kroisel, P. M., & Wagner, K. (2001) · The American Journal of Human Genetics · doi:10.1086/319523 · Cited by 185 · cited 1×
“1)] [73].”
The dopamine D2 receptor locus as a modifying gene in neuropsychiatric disorders
Comings, D. E. (1991) · JAMA · doi:10.1001/jama.266.13.1793 · Cited by 180
A Complete Genome Screen in Sib Pairs Affected by Gilles de la Tourette Syndrome
* (1999) · The American Journal of Human Genetics · doi:10.1086/302613 · Cited by 163
Gilles de la Tourette's Syndrome and Attention Deficit Disorder With Hyperactivity
Pauls, D. L. (1986) · Archives of General Psychiatry · doi:10.1001/archpsyc.1986.01800120063012 · Cited by 161 · cited 3×
“In other words, rates of ADHD alone were not elevated in the relatives of GTS probands who did not themselves also have ADHD, suggesting that the “pure” form of ADHD is not present at an increased frequency in these families [2,12,35], but instead exists only when these disorders co-occur in the same individual.”
BackgroundResultSelf-citationExplosive Outbursts in Children With Tourette's Disorder
Budman, C. L., BRUUN, R. D., PARK, K. S., LESSER, M. L., & Olson, M. E. (2000) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-200010000-00014 · Cited by 153 · cited 1×
“Understanding the etiology of comorbid GTS conditions is especially critical, as children with comorbid diagnoses exhibit greater psychopathological burden [21], have more severe tic symptoms [15], and are at higher risk for aggressive behaviors and frequent anger outbursts [14,22,23].”
BackgroundRowe, D., Stever, C., Gard, J. M. C., Cleveland, H. H., Sanders, M. L., Abramowitz, A. J., Kozol, S. T., Mohr, J., Sherman, S. L., & Waldman, I. D. (1998) · Behavior Genetics · doi:10.1023/a:1021427314941 · Cited by 145
The genetics of obsessive compulsive disorder: a review of the evidence
Pauls, D. L. (2008) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.30168 · Cited by 142 · cited 1×
“Twin and family studies have demonstrated that there is a significant genetic component in the etiology of OCD, especially in the childhood onset form [24].”
BackgroundSelf-citationFamilial Pattern and Transmission of Gilles de la Tourette Syndrome and Multiple Tics
Pauls, D. L. (1981) · Archives of General Psychiatry · doi:10.1001/archpsyc.1981.01780350025002 · Cited by 137
Self-citationGenome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families
* (2007) · The American Journal of Human Genetics · doi:10.1086/511052 · Cited by 133
Self-citationVandenbergh, D. J., Thompson, M. D., Cook, E. H., Bendahhou, E., Nguyen, T., Krasowski, M. D., Zarrabian, D., Comings, D. E., Sellers, E. M., Tyndale, R. F., et al. (2000) · Molecular Psychiatry · doi:10.1038/sj.mp.4000701 · Cited by 133
Grados, M. A., & Mathews, C. A. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2008.01.019 · Cited by 130
Cruz, C., Camarena, B., King, N., Páez, F., Sidenberg, D., de la Fuente, J. R., & Nicolini, H. (1997) · Neuroscience Letters · doi:10.1016/s0304-3940(97)00523-5 · Cited by 127
Detection of major gene for Gilles de la Tourette syndrome.
Comings, D. E., Comings, B. G., Devor, E. J., & Cloninger, C. R. (1984) · PubMed · Cited by 120
Familial Pattern of Gilles de la Tourette Syndrome
Kídd, K. K. (1980) · Archives of General Psychiatry · doi:10.1001/archpsyc.1980.01780250022001 · Cited by 120 · cited 2×
“Results from GTS family studies consistently show a 10- to 100-fold increase in the rates of GTS in first-degree relatives when compared to those rates in the general population [3–12], making it one of the most heritable childhood-onset neuropsychiatric conditions [13].”
BackgroundResultGrice, D. E., Leckman, J. F., Pauls, D. L., Kurlan, R., Kídd, K. K., PAKSTIS, A. J., Chang, F. M., Buxbaum, J. D., Cohen, D. J., & Gelernter, J. E. (1996) · PubMed Central · Cited by 118
Self-citationSegregation and Linkage Analyses of Tourette's Syndrome and Related Disorders
Pauls, D. L., PAKSTIS, A. J., Kurlan, R., Kídd, K. K., Leckman, J. F., Cohen, D. J., Kidd, J. R., Como, P. G., & Sparkes, R. S. (1990) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199003000-00007 · Cited by 111 · cited 1×
“Furthermore, the concordance rate of monozygotic twins reached 100% for GTS or CT when direct observational interviews were conducted [47].”
BackgroundSelf-citationGenetic heterogeneity in catatonic schizophrenia: A family study
Beckmann, H., Franzek, E., & Stöber, G. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960531)67:3 · Cited by 110
SLITRK1 mutations in trichotillomania
Zuchner, S. L., Cuccaro, M. L., Tran-Viet, K.-N., Cope, H., Krishnan, R. R., Pericak‐Vance, M. A., Wright, H. H., & Ashley‐Koch, A. E. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001898 · Cited by 104
Debes, N. M., Hjalgrim, H., & Skov, L. (2008) · Journal of Child Neurology · doi:10.1177/0883073808316370 · Cited by 102 · cited 2×
“Understanding the etiology of comorbid GTS conditions is especially critical, as children with comorbid diagnoses exhibit greater psychopathological burden [21], have more severe tic symptoms [15], and are at higher risk for aggressive behaviors and frequent anger outbursts [14,22,23].”
BackgroundHebebrand, J., Klug, B., Fimmers, R., Seuchter, S. A., Wettke‐Schäfer, R., Deget, F., Camps, A., Lisch, S., Hebebrand, K., von Gontard, A., et al. (1997) · Journal of Psychiatric Research · doi:10.1016/s0022-3956(97)00028-9 · Cited by 101 · cited 3×
“Subsequent family studies support this finding [7–9,26,27], providing evidence that OCD may be a sex-influenced phenotype of GTS or CT.”
BackgroundResultBilineal transmission in Tourette's syndrome families
Kurlan, R., Eapen, V., Stern, J. S., McDermott, M. P., & Robertson, M. M. (1994) · Neurology · doi:10.1212/wnl.44.12.2336 · Cited by 98 · cited 2×
“Several investigators have observed bilineal transmission [27,50–52] in a number of GTS and CT families, raising the possibility of nonrandom selection of partners for marriage (assortative mating).”
BackgroundDíaz-Anzaldúa, A., Joober, R., Rivière, J.-B., Dion, Y., Lespérance, P., Richer, F., Chouinard, S., Rouleau, G. A., & and the Montreal Tourette Syndrome Study Group (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001411 · Cited by 97
A Controlled Family Study of Attention-Deficit/Hyperactivity Disorder and Tourette's Disorder
Stewart, S. E., Illmann, C., GELLER, D. A., Leckman, J. F., King, R. A., & Pauls, D. L. (2006) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/01.chi.0000251211.36868.fe · Cited by 90 · cited 2×
“In other words, rates of ADHD alone were not elevated in the relatives of GTS probands who did not themselves also have ADHD, suggesting that the “pure” form of ADHD is not present at an increased frequency in these families [2,12,35], but instead exists only when these disorders co-occur in the same individual.”
BackgroundResultSelf-citationKeen‐Kim, D., Mathews, C. A., Reus, V. I., Lowe, T. L., Herrera, L. D., Budman, C. L., Gross‐Tsur, V., Pulver, A. E., BRUUN, R. D., Erenberg, G., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl408 · Cited by 90 · cited 3×
“Another large study evaluated 307 Costa Rican and 515 Ashkenazi patients for association between GTS and SLITRK1 [86].”
BackgroundResultInfluentialBoghosian-Sell, L., Comings, D. E., & Overhauser, J. (1996) · PubMed Central · Cited by 90
LACK OF ASSOCIATION BETWEEN SLITRK1 var321 AND TOURETTE SYNDROME IN A LARGE FAMILY-BASED SAMPLE
Scharf, J. M., Moorjani, P., Fagerness, J. A., Platko, J. V., Illmann, C., Galloway, B., Jenike, E. A., Stewart, S. E., & Pauls, D. L. (2008) · Neurology · doi:10.1212/01.wnl.0000296833.25484.bb · Cited by 90
Self-citationAssociation Studies of Serotonin System Candidate Genes in Early-onset Obsessive-Compulsive Disorder
Dickel, D. E., Veenstra-VanderWeele, J. M., Bivens, N. C., Wu, X., Fischer, D., Etten, M. L. V., Himle, J. A., LEVENTHAL, B. L., Cook, E. H., & Hanna, G. L. (2007) · Biological Psychiatry · doi:10.1016/j.biopsych.2006.09.030 · Cited by 89
Rage Attacks in Children and Adolescents With Tourette's Disorder
Budman, C. L., BRUUN, R. D., Park, K. S., & Olson, M. E. (1998) · The Journal of Clinical Psychiatry · doi:10.4088/jcp.v59n1103 · Cited by 89 · cited 1×
“Understanding the etiology of comorbid GTS conditions is especially critical, as children with comorbid diagnoses exhibit greater psychopathological burden [21], have more severe tic symptoms [15], and are at higher risk for aggressive behaviors and frequent anger outbursts [14,22,23].”
BackgroundGenetic analysis of Tourette syndrome suggesting major gene effect.
Baron, M., Shapiro, E., Shapiro, A., & Rainer, J. D. (1981) · PubMed · Cited by 83
State, M. W., Greally, J. M., Cuker, A. C., Bowers, P. N., Henegariu, O., Morgan, T. M., Günel, M., DiLuna, M. L., King, R. A., Nelson-Williams, C. J., et al. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0730775100 · Cited by 81 · cited 1×
“18q22: Four independent translocations or deletions involving 18q22 have been reported: an 18q22 deletion [77], an 18q21-q22 inversion [78], a t(2;18)(p12;q22) translocation [79]; and the t(7;18)(q22-31;q22) translocation [71].”
BackgroundSelf-citationIntermediate inheritance of Tourette syndrome, assuming assortative mating.
Hasstedt, S. J., Leppert, M., Filloux, F. M., van de Wetering, B. J., & McMahon, W. M. (1995) · PubMed Central · Cited by 80
Examination of the SLITRK1 gene in Caucasian patients with Tourette syndrome
Deng, H., Le, W., Xie, W., & Jankovic, J. J. (2006) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.2006.00706.x · Cited by 79 · cited 2×
“While another study [87] detected two independent, novel, non-synonymous sequence changes in SLITRK1 in a set of 44 families with trichotillomania, an OCD-spectrum disorder that has been previously hypothesized to be genetically related to GTS, additional studies in GTS and OCD samples have failed to replicate associa…”
ResultAutosomal Dominant Gene Transmission in a Large Kindred with Gilles de la Tourette Syndrome
Curtis, D., Robertson, M. M., & Gurling, H. (1992) · The British Journal of Psychiatry · doi:10.1192/bjp.160.6.845 · Cited by 79 · cited 3×
“Subsequent family studies support this finding [7–9,26,27], providing evidence that OCD may be a sex-influenced phenotype of GTS or CT.”
ResultUnderstanding disability in Tourette syndrome
Pringsheim, T. M., Lang, A. E., Kurlan, R., Pearce, M., & Sandor, P. (2009) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2008.03168.x · Cited by 79 · cited 1×
“Understanding the etiology of comorbid GTS conditions is especially critical, as children with comorbid diagnoses exhibit greater psychopathological burden [21], have more severe tic symptoms [15], and are at higher risk for aggressive behaviors and frequent anger outbursts [14,22,23].”
BackgroundDopaminergic polymorphisms in Tourette syndrome: Association with the DAT gene (SLC6A3)
Yoon, D. Y., Rippel, C. A., Kobets, A. J., Morris, C. M., Lee, J. E., Williams, P. N., Bridges, D. D., Vandenbergh, D. J., Shugart, Y. Y., & Singer, H. S. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30466 · Cited by 78
Belloso, J. M., Bache, I., Guitart, M., Caballín, M. R., Halgren, C., Kirchhoff, M., Ropers, H., Tommerup, N., & Tümer, Z. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201824 · Cited by 77 · cited 1×
“1) in phenotypically normal individuals [81].”
Bilineal transmission in Tourette syndrome
Hanna, P. A., Janjua, F. N., Contant, C. F., & Jankovic, J. J. (1999) · Neurology · doi:10.1212/wnl.53.4.813 · Cited by 77
Devor, E. J. (1984) · PubMed · Cited by 76
Association of the androgen receptor gene (AR) with ADHD and conduct disorder
Comings, D. E., Chen, C., Wu, S., & Muhleman, D. R. (1999) · Neuroreport · doi:10.1097/00001756-199905140-00036 · Cited by 75
Gade, R., Muhleman, D. R., Blake, H., MacMurray, J. P., Johnson, P., Verde, R., Saucier, G., & Comings, D. E. (1998) · Molecular Psychiatry · doi:10.1038/sj.mp.4000326 · Cited by 73
Principal components analysis of a large cohort with Tourette syndrome
Robertson, M. M., Althoff, R. R., Hafez, A., & Pauls, D. L. (2008) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.107.039909 · Cited by 73 · cited 1×
“The evaluation of GTS symptoms in 410 GTS patients utilizing principal component analysis found that individuals who have GTS comorbid with ADHD or OCD are more likely to exhibit socially inappropriate behaviors and other complex vocal tics [40].”
MethodSelf-citationGilles de la Tourette Syndrome Is Not Linked to D2-Dopamine Receptor
Gelernter, J. (1990) · Archives of General Psychiatry · doi:10.1001/archpsyc.1990.01810230089014 · Cited by 72
Bilineal Transmission and Phenotypic Variation of Tourette's Disorder in a Large Pedigree
McMahon, W. M., van de WETERING, B. M., Filloux, F. M., BETIT, K., Coon, H. H., & Leppert, M. (1996) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199605000-00023 · Cited by 70 · cited 2×
“Subsequent family studies support this finding [7–9,26,27], providing evidence that OCD may be a sex-influenced phenotype of GTS or CT.”
BackgroundResultKnell, E. R., & Comings, D. E. (1993) · PubMed · Cited by 69
Association of SLITRK1 to Gilles de la Tourette Syndrome
de Miranda, D. M., Wigg, K. G., Kabia, E. M., Feng, Y., Sandor, P., & Barr, C. L. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30840 · Cited by 69 · cited 1×
“[94] screened 208 GTS affected children from 154 nuclear families for association between common single nucleotide polymorphisms (SNPs) in SLITRK1 and GTS.”
BackgroundTárnok, Z., Rónai, Z., Gervai, J., Kereszturi, É., Gádoros, J., Sasvári‐Székely, M., & Nemoda, Z. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30517 · Cited by 68
Genetic hypotheses for Tourette syndrome.
Kk, K., & Dl, P. (1982) · PubMed · Cited by 68
Systematic screening for mutations in the promoter and the coding region of the 5‐HT1A gene
Erdmann, J., Shimron‐Abarbanell, D., Cichon, S., Albus, M., Maier, W., Lichtermann, D., Minges, J., Reuner, U., Franzek, E., Ertl, M. A., et al. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320600509 · Cited by 65
Dopamine Receptor D2 Gene Polymorphisms Are Associated in Taiwanese Children With Tourette Syndrome
Lee, C.-C., Chou, I.-C., Tsai, C.-H., Wang, T.-R., Li, T.-C., & Tsai, F.-J. (2005) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2005.05.005 · Cited by 63
Psychosocial competence of unselected young adults with sex chromosome abnormalities
Bender, B. G., Harmon, R. J., Linden, M. G., Bucher‐Bartelson, B., & Robinson, A. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990416)88:2 · Cited by 61
Tourette syndrome and chronic tics in a sample of children and adolescents
SACCOMANI, L., Vercellino, F., Manuela, B., & Giambattista, R. (2004) · Brain and Development · doi:10.1016/j.braindev.2004.09.007 · Cited by 61 · cited 1×
“Obsessive Compulsive Disorder (OCD) and Attention Deficit Hyperactivity Disorder (ADHD) are the most common GTS-related comorbidities, each affecting over 50% of GTS individuals [11, 14,16,17].”
BackgroundSequence analysis of the complete SLITRK1 gene in Austrian patients with Tourette's disorder
Zimprich, A. A., Hatala, K., Riederer, F., Stögmann, E., Aschauer, H. N., & Stamenkovic, M. (2008) · Psychiatric Genetics · doi:10.1097/ypg.0b013e3283060f6f · Cited by 58 · cited 2×
“While another study [87] detected two independent, novel, non-synonymous sequence changes in SLITRK1 in a set of 44 families with trichotillomania, an OCD-spectrum disorder that has been previously hypothesized to be genetically related to GTS, additional studies in GTS and OCD samples have failed to replicate associa…”
ResultGenetic and clinical analysis of a large Dutch Gilles de la Tourette family
Verkerk, A. J. M. H., Cath, D. C., van der Linde, H. C., Both, J., Heutink, P., Breedveld, G. J., Aulchenko, Y. S., & Oostra, B. A. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001877 · Cited by 58 · cited 2×
“Analysis of three large multigenerational GTS families also has not detected any SLITRK1 mutations [91,95–97].”
BackgroundResultAssociation between Tourette's syndrome and homozygosity at the dopamine D3 receptor gene
Comings, D., Muhleman, D. R., Dietz, G., Dino, M., Legro, R. S., & Gade, R. (1993) · The Lancet · doi:10.1016/0140-6736(93)93123-i · Cited by 57
Pauls, D. L., Kruger, S. D., Leckman, J. F., Cohen, D. J., & Kídd, K. K. (1984) · Journal of the American Academy of Child Psychiatry · doi:10.1097/00004583-198403000-00003 · Cited by 57 · cited 2×
“Results from GTS family studies consistently show a 10- to 100-fold increase in the rates of GTS in first-degree relatives when compared to those rates in the general population [3–12], making it one of the most heritable childhood-onset neuropsychiatric conditions [13].”
BackgroundResultSelf-citationMolecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome
Petek, E., Schwarzbraun, T., Noor, A., Patel, M., Nakabayashi, K., Choufani, S., Windpassinger, C., Stamenkovic, M., Robertson, M. M., Aschauer, H. N., et al. (2006) · Molecular Genetics and Genomics · doi:10.1007/s00438-006-0173-1 · Cited by 57 · cited 1×
“Mapping of the breakpoints implicated disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L); however recent screening of 39 GTS individuals did not find any coding mutations [74].”
BackgroundCuker, A. C., State, M. W., King, R. A., Davis, N., & Ward, D. C. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30066 · Cited by 56 · cited 1×
“18q22: Four independent translocations or deletions involving 18q22 have been reported: an 18q22 deletion [77], an 18q21-q22 inversion [78], a t(2;18)(p12;q22) translocation [79]; and the t(7;18)(q22-31;q22) translocation [71].”
BackgroundBrett, P., Curtis, D., Robertson, M. M., & Gurling, H. (1995) · American Journal of Psychiatry · doi:10.1176/ajp.152.3.437 · Cited by 56
An association study between 5-HTTLPR polymorphism, COMT polymorphism, and Tourette's syndrome
Cavallini, M. C., Bella, D. D., Catalano, M., & Bellodi, L. (2000) · Psychiatry Research · doi:10.1016/s0165-1781(00)00220-1 · Cited by 56
Children at familial risk for Tourette's disorder: Child and parent diagnoses
McMahon, W. M., Carter, A. S., Fredine, N., & Pauls, D. L. (2003) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.20065 · Cited by 56 · cited 1×
“In a prospective study of children at risk for GTS, children of two GTS-affected parents had three times greater risk of developing ADHD compared to the children of one affected parent, and two times greater risk of developing either tics, ADHD, or OCD [38].”
BackgroundSelf-citationComings, D. E., Gade, R., Muhleman, D. R., Chiu, C., Wu, S., To, M., Spence, M. C., Dietz, G., Winn-Deen, E. S., Rosenthal, R. J., et al. (1996) · Pharmacogenetics · doi:10.1097/00008571-199608000-00004 · Cited by 54
Gelernter, J. E., Rao, P. A., Pauls, D. L., Hamblin, M. W., Sibley, D. R., & Kídd, K. K. (1995) · Genomics · doi:10.1016/0888-7543(95)80202-w · Cited by 54
Self-citationNöthen, M. M., Hebebrand, J., Knapp, M., Hebebrand, K., Camps, A., von Gontard, A., Wettke‐Schäfer, R., Lisch, S., Cichon, S., Poustka, F., et al. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320540311 · Cited by 52
The familial association of tourette's disorder and ADHD: The impact of OCD symptoms
O’Rourke, J. A., Scharf, J. M., Platko, J. V., Stewart, S. E., Illmann, C., GELLER, D. A., King, R. A., Leckman, J. F., & Pauls, D. L. (2011) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31195 · Cited by 52
Self-citation9p monosomy in a patient with Gilles de la Tourette's syndrome
Taylor, L. D., Krizman, D. B., Jankovic, J. J., Hayani, A., Steuber, P., Greenberg, F., Fenwick, R. G., & Caskey, C. T. (1991) · Neurology · doi:10.1212/wnl.41.9.1513 · Cited by 50 · cited 1×
“Finally, two earlier reports have indicated possible involvement of 9p locus: 9p terminal deletion in a 16 year old male with GTS, developmental delays, and dysmorphic features [82]; and triple X and 9p mosaicism in a woman with mild mental retardation, seizures and aggressive outbursts [83].”
BackgroundWendland, J. R., Kruse, M. R., & Murphy, D. L. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001848 · Cited by 50 · cited 1×
“While another study [87] detected two independent, novel, non-synonymous sequence changes in SLITRK1 in a set of 44 families with trichotillomania, an OCD-spectrum disorder that has been previously hypothesized to be genetically related to GTS, additional studies in GTS and OCD samples have failed to replicate associa…”
ResultRole of the novel tryptophan hydroxylase-2 gene in Tourette syndrome
Mößner, R., Müller‐Vahl, K., Döring, N., & Stuhrmann, M. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4002004 · Cited by 48
Association of the Slit and Trk-like 1 Gene in Taiwanese Patients With Tourette Syndrome
Chou, I., Wan, L., Liu, S., Tsai, C., & Tsai, F. (2007) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2007.06.017 · Cited by 48 · cited 1×
“[90] SNP Genotyping No var321 alleles found in 307 Costa Rican patients.”
BackgroundBrett, P., Curtis, D., Robertson, M. M., & Gurling, H. (1995) · Biological Psychiatry · doi:10.1016/0006-3223(94)00161-u · Cited by 47
Curtis, D., Brett, P., Dearlove, A., McQuillin, A., Kalsi, G., Robertson, M. M., & Gurling, H. (2004) · Psychiatric Genetics · doi:10.1097/01.ypg.0000107927.32051.f5 · Cited by 46
Hypothesis: Homozygosity in tourette syndrome
Comings, D. E., Comings, B. G., & Knell, E. R. (1989) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320340318 · Cited by 46 · cited 2×
“Se ro to ni n re ce pt or (5 -H T1 A ) N o lin ka ge , a ss oc ia tio n to G TS /C M T [1 49 ,1 50 ]”
BackgroundExclusion of close linkage of Tourette's syndrome to D1 dopamine receptor
Gelernter, J. E., Kennedy, J. L., Grandy, D. K., Zhou, Q., Civelli, O., Pauls, D. L., PAKSTIS, A. J., Kurlan, R., Sunahara, R. K., & Niznik, H. B. (1993) · American Journal of Psychiatry · doi:10.1176/ajp.150.3.449 · Cited by 44
Self-citationGENE LOCATION IN TOURETTE SYNDROME
Donnai, D. (1987) · The Lancet · doi:10.1016/s0140-6736(87)90263-7 · Cited by 43 · cited 1×
“18q22: Four independent translocations or deletions involving 18q22 have been reported: an 18q22 deletion [77], an 18q21-q22 inversion [78], a t(2;18)(p12;q22) translocation [79]; and the t(7;18)(q22-31;q22) translocation [71].”
BackgroundCognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressingFRAXE
Abrams, M. T., Doheny, K. F., Mazzocco, M. M. M., Knight, S. J. L., Baumgardner, T. L., Freund, L. S., Davies, K. E., & Reiss, A. L. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970221)74:1 · Cited by 42
Family data support a dominant major gene for Tourette syndrome
Price, R. A., Pauls, D. L., Kruger, S. D., & Caine, E. D. (1988) · Psychiatry Research · doi:10.1016/0165-1781(88)90107-2 · Cited by 41 · cited 2×
“Results from segregation analyses of family studies have been consistent with the hypothesis that GTS is genetically transmitted [7,8,26,41–49].”
ResultSelf-citationGelernter, J. (1994) · Archives of Neurology · doi:10.1001/archneur.1994.00540160099012 · Cited by 41
Devor, E. J., Grandy, D. K., Civelli, O., Litt, M. J., Burgess, A. K., Isenberg, K. E., van de Wetering, & Oostra, B. A. (1990) · Human Heredity · doi:10.1159/000153914 · Cited by 40
Hebebrand, J., Nöthen, M. M., Ziegler, A., Klug, B., Neidt, H., Eggermann, K., Lehmkuhl, G., Poustka, F., Schmidt, M. H., Propping, P., et al. (1997) · The American Journal of Human Genetics · doi:10.1016/s0002-9297(07)64298-0 · Cited by 39
A family study of Tourette syndrome in Japan
Kano, Y., Ohta, M., Nagai, Y., Pauls, D. L., & Leckman, J. F. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1436 · Cited by 38 · cited 2×
“Results from GTS family studies consistently show a 10- to 100-fold increase in the rates of GTS in first-degree relatives when compared to those rates in the general population [3–12], making it one of the most heritable childhood-onset neuropsychiatric conditions [13].”
BackgroundResultSelf-citationBreakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome
Matsumoto, N., David, D. E., Johnson, E. W., Konecki, D. S., Burmester, J. K., Ledbetter, D. H., & Weber, J. L. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200549 · Cited by 36 · cited 1×
“8q13-8q22: Three separate instances of a translocation breakpoint on 8q have been described in GTS: two isolated cases with breakpoints on 8q13 [75] and a the third which included a father and six children with a t(1;8)(q21;q22) translocation [76], with four children reported to have GTS or tics.”
BackgroundFabbrini, G., Pasquini, M., Aurilia, C., Berardelli, I., Breedveld, G. J., Oostra, B. A., Bonifati, V., & Berardelli, A. (2007) · Movement Disorders · doi:10.1002/mds.21697 · Cited by 35 · cited 1×
“Analysis of three large multigenerational GTS families also has not detected any SLITRK1 mutations [91,95–97].”
BackgroundTourette's syndrome and homozygosity for the dopamine D3 receptor gene
Hebebrand, J., Nöthen, M. M., Lehmkuhl, G., Poustka, F., Schmidt, M. H., Propping, P., Remschmidt, H., Comings, D., Muhleman, D. R., Dietz, G., et al. (1993) · The Lancet · doi:10.1016/0140-6736(93)90931-6 · Cited by 35
Johnson, W. G. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990820)88:4 · Cited by 33
Brett, P., Robertson, M. M., Gurling, H., & Curtis, D. (1993) · The Lancet · doi:10.1016/0140-6736(93)91064-s · Cited by 30
Gelernter, J. E., Vandenbergh, D. J., Kruger, S. D., Pauls, D. L., Kurlan, R., PAKSTIS, A. J., Kídd, K. K., & Uhl, G. R. (1995) · Genomics · doi:10.1006/geno.1995.1265 · Cited by 29
Self-citationCrawford, F., Ait‐Ghezala, G., Morris, M. D., Sutcliffe, M. J., Hauser, R. A., Silver, A. A., & MULLAN, M. J. (2003) · Human Genetics · doi:10.1007/s00439-003-0942-4 · Cited by 27 · cited 1×
“8q13-8q22: Three separate instances of a translocation breakpoint on 8q have been described in GTS: two isolated cases with breakpoints on 8q13 [75] and a the third which included a father and six children with a t(1;8)(q21;q22) translocation [76], with four children reported to have GTS or tics.”
BackgroundShelley, B. P., Robertson, M. M., & Turk, J. (2007) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2006.00943.x · Cited by 25 · cited 1×
“In addition, two independent cases of translocation and deletion of 17p11 in GTS affected individuals were recently reported [69, 70].”
BackgroundCatechol-O-methyltransferase and Gilles de la Tourette syndrome
Barr, C. L., Wigg, K., & Sandor, P. (1999) · Molecular Psychiatry · doi:10.1038/sj.mp.4000549 · Cited by 25
Neuroreceptor subunit genes and the genetic susceptibility to gilles de la tourette syndrome
Brett, P., Curtis, D., Robertson, M. M., & Gurling, H. (1997) · Biological Psychiatry · doi:10.1016/s0006-3223(97)00140-6 · Cited by 24
Serotonin receptor genes HTR3A and HTR3B are not involved in Gilles de la Tourette syndrome
Niesler, B., Frank, B., Hebebrand, J., & Rappold, G. (2005) · Psychiatric Genetics · doi:10.1097/00041444-200512000-00015 · Cited by 24
Tourette's syndrome in a black woman with associated triple X and 9p mosaicism.
Singh, D. N., Howe, G., Jordan, H. W., & Hara, S. (1982) · PubMed Central · Cited by 23
Chou, I., Tsai, C., Lee, C.-C., Kuo, H., Hsu, Y.-A., Li, C., & Tsai, F. (2004) · Psychiatric Genetics · doi:10.1097/00041444-200412000-00010 · Cited by 23
Devor, E. J., Dill-Devor, R. M., & Magee, H. J. (1998) · Psychiatric Genetics · doi:10.1097/00041444-199800820-00003 · Cited by 22
Psychiatric Genetics: Applications in Clinical Practice
Sheidley, B. R., & Tsuang, M. T. (2008) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9781615377565 · Cited by 21 · cited 1×
“Results from GTS family studies consistently show a 10 to 100 fold increase in the rates of GTS in first-degree relatives when compared to those rates in the general population [3–12] making it one of the most heritable childhood onset neuropsychiatric conditions [13].”
ResultPsychiatric Genetics: Applications in Clinical Practice
Drury, S. S. (2009) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/01.chi.0000314065.27532.07 · Cited by 21
Orth, M., Djarmati, A., Bäumer, T., Winkler, S., Grünewald, A., Lohmann-Hedrich, K., Kabakci, K., Hagenah, J. M., Klein, C., & Münchau, A. M. (2007) · Movement Disorders · doi:10.1002/mds.21674 · Cited by 18 · cited 1×
“Analysis of three large multigenerational GTS families also has not detected any SLITRK1 mutations [91,95–97].”
BackgroundHLA‐DRB genotyping in Gilles de la Tourette patients and their parents
Schoenian, S., König, I. R., Oertel, W. H., Remschmidt, H., Ziegler, A., Hebebrand, J., & Bandmann, O. (2003) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.20003 · Cited by 18
Chou, I., Tsai, C., Wan, L., Hsu, Y.-A., & Tsai, F. (2007) · Psychiatric Genetics · doi:10.1097/ypg.0b013e3281ac2358 · Cited by 17
Analysis of the dopamine beta hydroxylase gene in Gilles de la tourette syndrome
Ozbay, F., Wigg, K. G., Turanlı, E. T., Asherson, P. J., Yazgan, Y., Sandor, P., & Barr, C. L. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30393 · Cited by 16
Ferreira, M. A. R., Sham, P., Daly, M. J., & Purcell, S. (2007) · Behavior Genetics · doi:10.1007/s10519-007-9149-0 · Cited by 15 · cited 1×
“A recent genome-wide association analysis of bipolar disorder, which combined three datasets [109–111] totaling over 4300 cases and 6200 controls [109], detected two markers with genome wide significant association.”
BackgroundEvaluation of the genes for the adrenergic receptors α2A and α1C and Gilles de la Tourette Syndrome
Xu, C., Ozbay, F., Wigg, K. G., Shulman, R., Turanlı, E. T., Yazgan, Y., Sandor, P., & Barr, C. L. (2003) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.20001 · Cited by 15
de Miranda, D. M., Wigg, K., Feng, Y., Sandor, P., & Barr, C. L. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30580 · Cited by 15
Huang, Y., Liu, X., Li, T., Guo, L., Sun, X., Xiao, X., Ma, X., Wang, Y., & Collier, D. A. (2001) · PubMed · Cited by 14
Huang, Y., Li, T., Wang, Y., Jawaid, A., Lan-ting, G., Liu, X., Zhao, J. H., Hu, X., Sham, P. C., & Collier, D. A. (2003) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.20079 · Cited by 13
Pasquini, M., Fabbrini, G., Berardelli, I., Bonifati, V., Biondi, M., & Berardelli, A. (2008) · Psychiatry Research · doi:10.1016/j.psychres.2008.02.012 · Cited by 12 · cited 1×
“Analysis of three large multigenerational GTS families also has not detected any SLITRK1 mutations [91,95–97].”
BackgroundThe D2 Dopamine Receptor and Tourette's Syndrome
Devor, E. J. (1992) · JAMA · doi:10.1001/jama.1992.03480050055011 · Cited by 12
Normal chromosomal findings in Gilles de la Tourette syndrome
Robertson, M., & Trimble, M. R. (1993) · Psychiatric Genetics · doi:10.1097/00041444-199322000-00005 · Cited by 12 · cited 1×
“The only study that systematically examined structural variation of chromosomes in GTS has karyotyped 68 consecutive patients and has identified one individual with XYY chromosome, and two individuals with normal heterochromatin variations on chromosomes 1 and 9 [66].”
BackgroundNo genetic association between NCAM1 gene polymorphisms and schizophrenia in the Chinese population
Zhao, X., He, Z., Huang, K., Tang, W., Li, Z., Tang, R., Xu, Y., Feng, G., He, L., & Shi, Y. (2008) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2008.06.007 · Cited by 11 · 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].”
BackgroundFamilial fatal fetal cardiomyopathy with isolated myocardial calcifications: A new syndrome?
Haug, K., Kohlschmidt, N., Dereser-Dennl, M., Zielinski, J., Merz, E., & Sch�fer, D. (2001) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20010701)101:3 · Cited by 10
Father-to-Son Transmission of 6;17 Translocation in Tourette’s Syndrome
Dehning, S., RIEDEL, M., & Müller, N. (2008) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2008.07111828 · Cited by 10 · cited 1×
“In addition, two independent cases of translocation and deletion of 17p11 in GTS affected individuals were recently reported [69, 70].”
BackgroundRippel, C. A., Kobets, A. J., Yoon, D. Y., Williams, P. N., Shugart, Y. Y., Bridges, D. D., Vandenbergh, D. J., & Singer, H. S. (2006) · Psychiatric Genetics · doi:10.1097/01.ypg.0000218622.96127.71 · Cited by 6
The D2 dopamine receptor and Tourette's syndrome
Devor, E. J. (1992) · JAMA · doi:10.1001/jama.267.5.651b · Cited by 4
Hebebrand, J., Nöthen, M. M., Klug, B., Wettke‐Schäfer, R., Camps, A., Lisch, S., Hemmer, S., von Gontard, A., Poustka, F., Lehmkuhl, G., et al. (1995) · Biological Psychiatry · doi:10.1016/0006-3223(94)00214-n · Cited by 3
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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