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  • Review Article
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The genetics of Tourette syndrome

Nature Reviews Neurology volume 8, pages 203–213 (2012)Cite this article

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Abstract

Tourette syndrome is a complex neurological disorder that usually becomes evident between 4 and 18 years of age. The disorder is characterized by chronic motor and phonic tics, often with a variety of behavioural comorbidities; in particular, attention-deficit hyperactivity disorder, obsessive–compulsive disorder, and impulse control disorder. The cause of Tourette syndrome is poorly understood. Although environmental factors are proposed to have a role, genetic factors are thought to be the primary contributors to the pathogenesis of this disorder. However, identification of the causative gene mutations or risk alleles has proved to be difficult. Early studies on the genetics of Tourette syndrome focused on multigenerational lineages and suggested Mendelian inheritance, but subsequent segregation analyses point to a more-complex inheritance pattern. A monogenic inheritance model has been proposed following the identification of rare genetic mutations associated with the Tourette syndrome phenotype. Although no specific mutations have found to directly cause Tourette syndrome, genetic findings may enable identification of the affected pathways, and could lead to the development of new treatment strategies. In this Review, we provide an overview of the genetics of Tourette syndrome and highlight how this knowledge has improved our understanding of the possible pathogenic mechanisms of this neurological disorder.

Key Points

  • Tourette syndrome is a complex neurological disorder characterized by chronic motor and phonic tics, often accompanied by a variety of behavioural comorbidities

  • Genetics seem to have the most critical role in the aetiopathogenesis of Tourette syndrome, but the disorder may occur as the result of complex interactions between environmental and genetic factors

  • Cytogenetic and linkage analyses have uncovered a number of loci and several genetic mutations that are associated with Tourette syndrome

  • Discoveries of genetic mutations associated with the Tourette syndrome phenotype support the conclusion that the disorder has an autosomal dominant inheritance pattern

  • The genetic variants associated with Tourette syndrome may have important cumulative effects and could contribute to the phenotypic variability observed in patients with this disorder

  • Genetic findings have led to a better understanding of the possible pathogenic mechanisms of Tourette syndrome, which may guide the development of new treatment strategies

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Figure 1: Neuronal location and proposed function of gene products associated with Tourette syndrome.

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Acknowledgements

Hao Deng was supported by National Natural Science Foundation of China (30871351), Sheng Hua Scholars Program and Outstanding Youth Foundation of Central South University, China, the Fundamental Research Funds for the Central Universities (2011JQ014), Program for New Century Excellent Talents in University of Ministry of Education of P. R. China (NCET-080563), Research Fund for the Doctoral Program of Higher Education of China (20110162110026) and Grant for the Foster Key Subject of the Third Xiangya Hospital (Clinical Laboratory Diagnostics). Kai Gao was supported by Mittal Students Innovative Projects of Central South University, China (11MX28). Joseph Jankovic was supported by the Diana Helis Henry Medical Research Foundation, the National Parkinson Foundation and Huntington Disease Society of America, Baylor College of Medicine Center of Excellence.

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Authors and Affiliations

  1. Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, 410013, Hunan, China

    Hao Deng & Kai Gao

  2. Department of Neurology, Baylor College of Medicine, 6550 Fannin Street, NB302, Houston, 77030, TX, USA

    Joseph Jankovic

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  1. Hao Deng
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H. Deng, K. Gao and J. Jankovic researched the data for the article, provided substantial contributions to discussions of content, and contributed equally to writing the article and to reviewing and editing of the manuscript before submission.

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Correspondence to Hao Deng.

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Deng, H., Gao, K. & Jankovic, J. The genetics of Tourette syndrome. Nat Rev Neurol 8, 203–213 (2012). https://doi.org/10.1038/nrneurol.2012.26

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