Gilles de la Tourette syndrome (GTS) is a developmental neuropsychiatric disorder
characterized by motor and vocal tics that can range in severity from mild to disabling.
Despite accumulated evidence for a substantial genetic contribution to disease risk,
gene discovery in GTS has been challenging. Decades of candidate gene association
studies initially reporting positive findings have failed to replicate in larger patient
cohorts, and genome-wide association studies have yet to generate statistically significant
signals. As in other complex neurodevelopmental disorders, specific risk genes have
been more difficult to identify than initially anticipated, particularly given early
data interpreted to suggest that GTS was a single-gene autosomal dominant disorder.
Rather, it seems most likely that risk for GTS is mediated by a conspiracy of multiple
genes harboring small-effect common variants and large-effect rare variants, combined
with environmental and epigenetic influences (
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References
- Tourette syndrome: Bridging the gap between genetics and biology.Mol Neuropsychiatry. 2015; 1: 156-164
- Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci.Neuron. 2015; 87: 1215-1233
Bertelsen B, Stefánsson H, Jensen LR, Melchior L, Debes NM, Groth C, et al. (2016): Association of AADAC deletion and Gilles de la Tourette syndrome in a large European cohort. Biol Psychiatry 79:383–391
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Article info
Publication history
Accepted:
December 18,
2015
Received:
December 17,
2015
Identification
Copyright
© 2016 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
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Access this article on ScienceDirectLinked Article
- Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European CohortBiological PsychiatryVol. 79Issue 5
- PreviewGilles de la Tourette syndrome (GTS) is a complex neuropsychiatric disorder with a strong genetic influence where copy number variations are suggested to play a role in disease pathogenesis. In a previous small-scale copy number variation study of a GTS cohort (n = 111), recurrent exon-affecting microdeletions of four genes, including the gene encoding arylacetamide deacetylase (AADAC), were observed and merited further investigations.
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