Tourette Syndrome: Bridging the Gap between Genetics and Biology

Mol Neuropsychiatry. 2015 Oct;1(3):156-164. doi: 10.1159/000439085. Epub 2015 Sep 4.

Abstract

Tourette syndrome is a childhood neuropsychiatric disorder, which presents with disruptive motor and vocal tics. The disease also has a high comorbidity with obsessive-compulsive disorder and attention deficit hyperactivity disorder, which may further increase the distress experienced by patients. Current treatments act with varying efficacies in alleviating symptoms, as the underlying biology of the disease is not fully understood to provide precise therapeutic targets. Moreover, the genetic complexity of the disorder presents a substantial challenge to the identification of genetic alterations that contribute to the Tourette's phenotype. Nevertheless, genetic studies have suggested involvement of dopaminergic, serotonergic, glutamatergic, and histaminergic pathways in the pathophysiology of at least some cases. In addition, genetic overlaps with other neuropsychiatric disorders may point toward a shared biology. The findings that are emerging from genetic studies will allow researchers to piece together the underlying components of the disease, in the hopes that a deeper understanding of Tourette's can lead to improved treatments for those affected by it.

Keywords: common variant; copy number variation; dopamine; genetics; genome wide association study; glutamate; histamine; linkage analysis; neurotransmitters; rare variant.