The genetics of Tourette syndrome: a review.
paper
Cited
Public
- Authors
- O'Rourke, Julia A; Scharf, Jeremiah M; Yu, Dongmei; Pauls, David L
- Year
- 2009
- Journal
- Journal of psychosomatic research
- PMID
- 19913658
- DOI
- 10.1016/j.jpsychores.2009.06.006
- PMCID
- PMC2778609
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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| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Dopamine in Tourette syndrome: a 30-year bibliometric analysis of hotspot evolution. | Liu Q et al. | β | 2025 | β |
| Genetic advances and translational phenotypes in rodent models for Tourette disorder. | Kowalski TF et al. | β | 2025 | β |
| Genetic architecture of tic disorders: A systematic review of 125 observational studies. | Yang CS et al. | β | 2025 | β |
| Unpacking Tourette Syndrome in Children: Insights into Prevalence and Comorbidities from NSCH Data. | Gunturu S et al. | β | 2025 | β |
| Pharmacological treatment of Tourette's syndrome: from the past to the future. | Gong H et al. | β | 2024 | β |
| Behavioral Interventions for Children and Adults with Tic Disorder. | Woods DW et al. | β | 2023 | β |
| G protein-coupled receptors in neurodegenerative diseases and psychiatric disorders. | Wong TS et al. | β | 2023 | β |
| Efficacy of Behavioural Intervention, Antipsychotics, and Alpha Agonists in the Treatment of Tics Disorder in Tourette's Syndrome. | Rizwan M et al. | β | 2022 | β |
| <i>Ξ±</i>6-Containing GABA<sub>A</sub> Receptors: Functional Roles and Therapeutic Potentials. | Sieghart W et al. | β | 2022 | β |
| Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette's syndrome. | Liao C et al. | β | 2022 | β |
| Editorial: Gilles de la Tourette Syndrome: Cross-Cultural Perspectives With a Focus on the Asia-Pacific Region. | Eapen V | β | 2021 | β |
| Elevated common variant genetic risk for tourette syndrome in a densely-affected pedigree. | Halvorsen M et al. | β | 2021 | β |
| Genetic architecture of Tourette syndrome: our current understanding. | DomΓ¨nech L et al. | β | 2021 | β |
| How do daily routines and situational factors affect the severity of obsessive-compulsive disorder? | Brierley ME et al. | β | 2021 | β |
| <i>LRRTM4</i> Terminal Exon Duplicated in Family with Tourette Syndrome, Autism and ADHD. | Clarke RA et al. | β | 2021 | β |
| Swearing and coprophenomena - A multidimensional approach. | Senberg A et al. | β | 2021 | β |
| Study protocol to investigate the correlation between Tourette syndrome and allergy in children and adolescents. | Tsai LH et al. | β | 2020 | β |
| Tourette Syndrome Risk Genes Regulate Mitochondrial Dynamics, Structure, and Function. | Clarke RA et al. | β | 2020 | β |
| Copy number variation and neuropsychiatric problems in females and males in the general population. | Martin J et al. | β | 2019 | β |
| Polygenic Risk Scores Derived From a Tourette Syndrome Genome-wide Association Study Predict Presence of Tics in the Avon Longitudinal Study of Parents and Children Cohort. | Abdulkadir M et al. | β | 2019 | β |
| Social communication deficits and restricted repetitive behavior symptoms in Tourette syndrome. | Eapen V et al. | β | 2019 | β |
| Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach. | Abdulkadir M et al. | β | 2018 | β |
| Systematic review of co-occurring OCD and TD: Evidence for a tic-related OCD subtype? | Kloft L et al. | β | 2018 | β |
| A search for the common ground between Tic; Obsessive-compulsive and Autism Spectrum Disorders: part I, Tic disorders. | Barnhill J et al. | β | 2017 | β |
| Copy number variation and neurodevelopmental problems in females and males in the general population | Martin J et al. | β | 2017 | β |
| Determinants of neurological disease: Synthesis of systematic reviews. | Krewski D et al. | β | 2017 | β |
| Genetic variation associated with the occurrence and progression of neurological disorders. | Little J et al. | β | 2017 | β |
| Lack of association between SLC5A7 polymorphisms and Tourette syndrome in a Chinese Han population. | Liu W et al. | β | 2017 | β |
| Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort. | Bertelsen B et al. | β | 2016 | β |
| CNS autoimmune disease after <i>Streptococcus pyogenes</i> infections: animal models, cellular mechanisms and genetic factors. | Cutforth T et al. | β | 2016 | β |
| Selective activation of D1 dopamine receptors impairs sensorimotor gating in Long-Evans rats. | Mosher LJ et al. | β | 2016 | β |
| The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery. | Georgitsi M et al. | β | 2016 | β |
| A case of Gilles de la Tourette's syndrome. | Prakash J et al. | β | 2015 | β |
| Analysis of SLITRK1 in Japanese patients with Tourette syndrome using a next-generation sequencer. | Inai A et al. | β | 2015 | β |
| Association between Tourette syndrome and the dopamine D3 receptor gene rs6280. | He F et al. | β | 2015 | β |
| Association study of the SLITRK5 gene and Tourette syndrome. | Zhang K et al. | β | 2015 | β |
| Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. | Yu D et al. | β | 2015 | β |
| GDNF gene is associated with tourette syndrome in a family study. | Huertas-FernΓ‘ndez I et al. | β | 2015 | β |
| Involvement of astrocyte metabolic coupling in Tourette syndrome pathogenesis. | de Leeuw C et al. | β | 2015 | β |
| Tic symptom dimensions and their heritabilities in Tourette's syndrome. | de Haan MJ et al. | β | 2015 | β |
| Tourette syndrome and comorbid ADHD: causes and consequences. | El Malhany N et al. | β | 2015 | β |
| Web-based phenotyping for Tourette Syndrome: Reliability of common co-morbid diagnoses. | Darrow SM et al. | β | 2015 | β |
| A behavioural test battery to investigate tic-like symptoms, stereotypies, attentional capabilities, and spontaneous locomotion in different mouse strains. | Proietti Onori M et al. | β | 2014 | β |
| Association between pre- and perinatal exposures and Tourette syndrome or chronic tic disorder in the ALSPAC cohort. | Mathews CA et al. | β | 2014 | β |
| Association of glutathione S-transferase P1 (GSTP1) polymorphism with Tourette syndrome in Taiwanese patients. | Shen CP et al. | β | 2014 | β |
| Balance within the Neurexin Trans-Synaptic Connexus Stabilizes Behavioral Control. | Clarke RA et al. | β | 2014 | β |
| Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. | McGrath LM et al. | β | 2014 | β |
| Does repeated ticking maintain tic behavior? An experimental study of eye blinking in healthy individuals. | Beetsma DJ et al. | β | 2014 | β |
| Histidine decarboxylase deficiency causes tourette syndrome: parallel findings in humans and mice. | Baldan LC et al. | β | 2014 | β |
| Porcine SLITRK1: Molecular cloning and characterization. | Larsen K et al. | β | 2014 | β |
| The Inheritance of Tourette Disorder: A review. | Pauls DL et al. | β | 2014 | β |
| Association of poly(ADP-ribose) polymerase-1 polymorphism with Tourette syndrome. | Wu BT et al. | β | 2013 | β |
| Association of tyrosyl-DNA phosphodiesterase 1 polymorphism with Tourette syndrome in Taiwanese patients. | Wu BT et al. | β | 2013 | β |
| CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1. | Nag A et al. | β | 2013 | β |
| Common and rare alleles of the serotonin transporter gene, SLC6A4, associated with Tourette's disorder. | Moya PR et al. | β | 2013 | β |
| Emotional development in children with tics: a longitudinal population-based study. | Hoekstra PJ et al. | β | 2013 | β |
| Genetic susceptibility and neurotransmitters in Tourette syndrome. | Paschou P et al. | β | 2013 | β |
| Genome-wide association study of Tourette's syndrome. | Scharf JM et al. | β | 2013 | β |
| Involvement of tryptophan hydroxylase 2 gene polymorphisms in susceptibility to tic disorder in Chinese Han population. | Zheng P et al. | β | 2013 | β |
| Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities. | Melchior L et al. | β | 2013 | β |
| Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. | Davis LK et al. | β | 2013 | β |
| Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature. | Yasmeen S et al. | β | 2013 | β |
| The implication of neuroactive steroids in Tourette's syndrome pathogenesis: A role for 5Ξ±-reductase? | Bortolato M et al. | β | 2013 | β |
| Altered neurophysiologic response to intermittent theta burst stimulation in Tourette syndrome. | Wu SW et al. | β | 2012 | β |
| Attention-deficit/hyperactivity disorder genomics: update for clinicians. | Elia J et al. | β | 2012 | β |
| Catecholamine-related gene expression in blood correlates with tic severity in tourette syndrome. | Gunther J et al. | β | 2012 | β |
| Effectiveness of a web-based protocol for the screening and phenotyping of individuals with Tourette syndrome for genetic studies. | Egan CA et al. | β | 2012 | β |
| Evaluation of the LIM homeobox genes LHX6 and LHX8 as candidates for Tourette syndrome. | Paschou P et al. | β | 2012 | β |
| MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunction. | Xu B et al. | β | 2012 | β |
| Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism. | Clarke RA et al. | β | 2012 | β |
| Review of prevalence studies of tic disorders: methodological caveats. | Cubo E | β | 2012 | β |
| Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings. | Dichter GS et al. | β | 2012 | β |
| The genetic factors influencing the development of trichotillomania. | Chattopadhyay K | β | 2012 | β |
| The genetics of Tourette syndrome. | Deng H et al. | β | 2012 | β |
| The Gilles de la Tourette syndrome: the current status. | Robertson MM | β | 2012 | β |
| The prognosis of Tourette syndrome: implications for clinical practice. | Hassan N et al. | β | 2012 | β |
| What patients with gilles de la tourette syndrome should be treated with deep brain stimulation and what is the best target? | Piedad JC et al. | β | 2012 | β |
| Youths with ADHD with and without tic disorders: comorbid psychopathology, executive function and social adjustment. | Lin YJ et al. | β | 2012 | β |
| Advances in understanding and treatment of Tourette syndrome. | McNaught KS et al. | β | 2011 | β |
| European clinical guidelines for Tourette syndrome and other tic disorders. Part I: assessment. | Cath DC et al. | β | 2011 | β |
| Evidence-based pharmacotherapy for pediatric obsessive-compulsive disorder and chronic tic disorders. | De Nadai AS et al. | β | 2011 | β |
| Exome sequencing of a pedigree with Tourette syndrome or chronic tic disorder. | Sundaram SK et al. | β | 2011 | β |
| Familiality of Tourette syndrome, obsessive-compulsive disorder, and attention-deficit/hyperactivity disorder: heritability analysis in a large sib-pair sample. | Mathews CA et al. | β | 2011 | β |
| Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research. | Hochstenbach R et al. | β | 2011 | β |
| Gilles de la Tourette syndrome: the complexities of phenotype and treatment. | Robertson MM | β | 2011 | β |
| Identification of genetic loci underlying the phenotypic constructs of autism spectrum disorders. | Liu XQ et al. | β | 2011 | β |
| Mutant human embryonic stem cells reveal neurite and synapse formation defects in type 1 myotonic dystrophy. | Marteyn A et al. | β | 2011 | β |
| Neurobiology of tourette syndrome: current status and need for further investigation. | Felling RJ et al. | β | 2011 | β |
| Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus in identical siblings. | Lewin AB et al. | β | 2011 | β |
| Psychopathological aspects of dopaminergic gene polymorphisms in adolescence and young adulthood. | Nemoda Z et al. | β | 2011 | β |
| Republished review: Tourette's syndrome and other tic disorders. | Rickards H | β | 2011 | β |
| Role of leucine-rich repeat proteins in the development and function of neural circuits. | de Wit J et al. | β | 2011 | β |
| Slitrks as emerging candidate genes involved in neuropsychiatric disorders. | Proenca CC et al. | β | 2011 | β |
| Smooth pursuit and fixation ability in children with Tourette syndrome. | Tajik-Parvinchi DJ et al. | β | 2011 | β |
| Update on attention-deficit/hyperactivity disorder and tic disorders: a review of the current literature. | Simpson HA et al. | β | 2011 | β |
| Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome. | Chonchaiya W et al. | β | 2010 | β |
| Copy number variation in Tourette syndrome: another case of neurodevelopmental generalist genes? | Scharf JM et al. | β | 2010 | β |
| Cytokines and soluble adhesion molecules in children and adolescents with a tic disorder. | Bos-Veneman NG et al. | β | 2010 | β |
| MicroRNAs in psychiatric and neurodevelopmental disorders. | Xu B et al. | β | 2010 | β |
| Predictive factors for familiality in a Danish clinical cohort of children with Tourette syndrome. | Debes NM et al. | β | 2010 | β |
| Selected summaries from the XVII World Congress of Psychiatric Genetics, San Diego, California, USA, 4-8 November 2009. | Amstadter AB et al. | β | 2010 | β |
| Tic disorders: some key issues for DSM-V. | Walkup JT et al. | β | 2010 | β |
| Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred. | Breedveld GJ et al. | β | 2010 | β |
| The many faces of Gilles de la Tourette syndrome. | Robertson MM et al. | β | 2009 | β |