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Genetics of Tourette Syndrome

  • Chapter
Movement Disorder Genetics

Abstract

Tourette syndrome (TS) is a developmental neuropsychiatric disorder that is characterized by vocal and motor tics and is estimated to affect 0.2–1 % of the population. Despite evidence for a substantial genetic contribution toward disease risk, identification and replication of associations between genetic variants and TS have been challenging. Rare mutations in several genes have been identified, yet it is unclear whether these genes or their biological pathways play a role in the majority of TS cases. Similar to other complex neuropsychiatric disorders, it is likely that multiple variations in multiple genes, both within the individual and the population, may act together with environmental factors to confer risk. Centralized consortia are collecting larger patient cohorts required to identify candidate genes and biological pathways for TS. Recent profiling of gene expression in the striatum, a brain region highly implicated in TS, indicates downregulation of GABAergic and cholinergic interneurons and shows overlap with gene networks implicated by rare structural genetic variants. Together, integrated analyses of common and rare sequence and structural variation, transcriptomic variation, and bioinformatic analyses of convergent gene networks and pathways may elucidate the genetic etiology of TS.

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Acknowledgments

This work is supported by the Brain and Behavior Research Foundation (NARSAD) to GC, by the National Institute of Mental Health (NIMH) T32 Fellowship for postdoctoral training in childhood neuropsychiatric disorders, Award Number MH018268 to JBL, and by NIMH Award Number K08MH099424 to TVF.

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Authors and Affiliations

  1. Child Study Center, Yale University School of Medicine, New Haven, CT, 06520, USA

    Jessica B. Lennington PhD

  2. Child Study Center, Yale School of Medicine, New Haven, CT, 06520, USA

    Gianfilippo Coppola PhD

  3. Child Study Center and Psychiatry, Yale University School of Medicine, New Haven, CT, 06519, USA

    Thomas V. Fernandez MD

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  1. Jessica B. Lennington PhD
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  2. Gianfilippo Coppola PhD
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  3. Thomas V. Fernandez MD
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Correspondence to Thomas V. Fernandez MD .

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  1. Department of Neurology, University Hospital Kiel, Kiel, Germany

    Susanne A. Schneider

  2. Department of Molecular Neuroscience, University College London, Institute of Neurology, London, United Kingdom

    José M. Tomás Brás

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Lennington, J.B., Coppola, G., Fernandez, T.V. (2015). Genetics of Tourette Syndrome. In: Schneider, S., Brás, J. (eds) Movement Disorder Genetics. Springer, Cham. https://doi.org/10.1007/978-3-319-17223-1_9

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