Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental disorder that is characterized by several motor and phonic tics. Tics usually develop before 10 years of age, exhibit a waxing and waning course and typically improve with increasing age. A prevalence of approximately 1% is estimated in children and adolescents. The condition can result in considerable social stigma and poor quality of life, especially when tics are severe (for example, with coprolalia (swearing tics) and self-injurious behaviours) or when GTS is accompanied by attention-deficit/hyperactivity disorder, obsessive–compulsive disorder or another neuropsychiatric disorder. The aetiology is complex and multifactorial. GTS is considered to be polygenic, involving multiple common risk variants combined with rare, inherited or de novo mutations. These as well as non-genetic factors (such as perinatal events and immunological factors) are likely to contribute to the heterogeneity of the clinical phenotype, the structural and functional brain anomalies and the neural circuitry involvement. Management usually includes psychoeducation and reassurance, behavioural methods, pharmacotherapy and, rarely, functional neurosurgery. Future research that integrates clinical and neurobiological data, including neuroimaging and genetics, is expected to reveal the pathogenesis of GTS at the neural circuit level, which may lead to targeted interventions.
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The authors acknowledge all their patients and their families for their time, patience and teaching us all more about Gilles de la Tourette syndrome.
J.M.S. has received consulting fees from Nuvelution Pharma. D.W.W. receives royalties from Guilford Press and Oxford University Press and has received funding from the US National Institute of Mental Health (NIMH) through a subcontract with PsycTech. M.H. has received honoraria and travel grants from Medtronic as a speaker. J.F.L. serves on the scientific advisory boards of the Brain and Behavior Research Foundation, the European Multicentre Tics in Children Studies, the National Organization for Rare Diseases, Fondazione Child, and How I Decide. He has also received royalties from John Wiley and Sons, McGraw-Hill and Oxford University Press. M.M.R., V.E., H.S.S., D.M., P.P., V.R., C.A.M. and R.Č. declare no competing interests.
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Robertson, M., Eapen, V., Singer, H. et al. Gilles de la Tourette syndrome. Nat Rev Dis Primers 3, 16097 (2017). https://doi.org/10.1038/nrdp.2016.97
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