Complex Psychiatry · 2015 · 11 citations · 103 references
Life SciencesGeneticsPsychiatryHuman GeneticsNeurogeneticsNeuropsychiatryGenetic DisordersNeurodevelopmental GeneticsNeurogenetic DisordersNeuropsychiatric GeneticsPsychiatric GeneticsTourette SyndromeAttention Deficit Hyperactivity Disorder ComorbidityAttention-deficit/hyperactivity Disorder GeneticsComorbid Attention Deficit Hyperactivity DisorderGilles De La Tourette SyndromeHistaminergic SignalingNeuropsychiatric Disorder MechanismsPediatric Tourette Syndrome TreatmentTic Disorder Genetics
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.
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Global variation in copy number in the human genome
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Large-Scale Copy Number Polymorphism in the Human Genome
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Origins and functional impact of copy number variation in the human genome
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Medicine, Neuroscience, Pharmacology +15