The genetic basis of Gilles de la Tourette Syndrome

Neurosci Biobehav Rev. 2013 Jul;37(6):1026-39. doi: 10.1016/j.neubiorev.2013.01.016. Epub 2013 Jan 17.


Gilles de la Tourette Syndrome (TS) is a neuropsychiatric disorder that is caused by a likely complex genetic basis, interacting with environmental factors. Just as multiple large scale collaborative projects for TS are starting out and the first ever genomewide association study for TS has been published, this review provides a synthetic overview of more than two decades of active research. Studies of the dopaminergic and serotonergic pathways, have yielded inconsistent results, although, for instance, the involvement of DRD2, MAO-A, and DAT1 has been supported by independent findings. The study of chromosomal aberrations in TS etiology has implicated multiple genes, with SLITRK1 being the most prominent example. Common underlying themes with other neurodevelopmental disorders are emerging and attention on neurexins, neuroligins, and genes from the histaminergic and glutamatergic pathways is increased. Propelled by the gradual availability of large scale TS cohorts, and novel methodologies for the study of both common and rare genetic variants, the new era of TS genetics holds the promise to identify novel targets for improved therapies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosome Aberrations
  • Dopamine Plasma Membrane Transport Proteins / genetics
  • Genetic Linkage*
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Membrane Proteins / genetics
  • Monoamine Oxidase / genetics
  • Nerve Tissue Proteins / genetics
  • Receptors, Dopamine D2 / genetics
  • Tourette Syndrome / etiology*
  • Tourette Syndrome / genetics*


  • Dopamine Plasma Membrane Transport Proteins
  • Membrane Proteins
  • Nerve Tissue Proteins
  • Receptors, Dopamine D2
  • SLITRK1 protein, human
  • Monoamine Oxidase