Gilles de la Tourette syndrome (TS) is a neuropsychiatric disorder characterized by both motor and vocal tics. Individuals with TS often have symptoms of obsessive compulsive disorder (OCD) and these symptoms are thought to be an alternative expression of the TS gene(s) in TS families. In this paper we test for linkage of the functional polymorphism in the catechol-O-methyltransferase (COMT) gene to TS and OCD in five multi-generational families ascertained through a TS proband. This polymorphism (valine to methionine at codon 158) has been previously reported to influence the activity of COMT by three to four-fold and has recently been reported to be associated with OCD.1 We tested for linkage using an autosomal dominant model with reduced penetrance and non-parametric methods. No significant evidence for linkage was found for the COMT gene and the TS/CMT, or OCD phenotypes in these pedigrees.
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Article Synopsis
- Gilles de la Tourette syndrome (TS) is a neuropsychiatric disorder linked to abnormal brain circuitry and dopamine function, prompting researchers to study neurotransmission changes via TMS-evoked potentials (TEPs).
- The study involved 33 TS patients and 18 healthy controls, evaluating symptoms like tics and anxiety using various assessments and measuring TEPs in key brain regions.
- Results showed delayed and lower TEP responses in TS patients, particularly in the motor and prefrontal cortices, which correlated with tic severity and anxiety, suggesting these patterns may help understand TS's underlying mechanisms.
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