Tourette disorder and other tic disorders

Handb Clin Neurol. 2018:147:343-354. doi: 10.1016/B978-0-444-63233-3.00023-3.


Tourette disorder is a developmental neuropsychiatric condition characterized by vocal and motor tics that can range in severity from mild to disabling. It represents one end of a spectrum of tic disorders and is estimated to affect 0.5-0.7% of the population. Accumulated evidence supports a substantial genetic contribution to disease risk, but the identification of genetic variants that confer risk has been challenging. Positive findings in candidate gene association studies have not replicated, and genomewide association studies have not generated signals of genomewide significance, in large part because of inadequate sample sizes. Rare mutations in several genes have been identified, but their causality is difficult to establish. As in other complex neuropsychiatric disorders, it is likely that Tourette disorder risk involves a combination of common, low-effect and rare, larger-effect variants in multiple genes acting together with environmental factors. With the ongoing collection of larger patient cohorts and the emergence of affordable high-throughput genomewide sequencing, progress is expected to accelerate in coming years.

Keywords: SLITRK1; Tourette disorder; candidate gene association studies; copy number variant (CNV); genomewide association study (GWAS); histidine decarboxylase; linkage analysis; whole-genome sequencing.

Publication types

  • Review

MeSH terms

  • Gene-Environment Interaction
  • Histidine Decarboxylase
  • Humans
  • Membrane Proteins / genetics
  • Nerve Tissue Proteins / genetics
  • Tic Disorders / etiology*
  • Tic Disorders / genetics
  • Tourette Syndrome / etiology*
  • Tourette Syndrome / genetics


  • Membrane Proteins
  • Nerve Tissue Proteins
  • SLITRK1 protein, human
  • Histidine Decarboxylase