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The frequency of a rare CAG trinucleotide repeat in the promoter region of the 5′ end of the CYBB gene, which is involved in the production of oxygen radicals, was studied in 95 Japanese patients with systemic sclerosis (SSc) and 149 healthy controls. The incidence of CAG repeat expansion of more than 6 in this gene was calculated to be 3.5% in SSc patients and 1.3% in normal subjects (pStriatal dopamine-disrupted sensory-motor encoding in Tourette syndrome.
Tourette syndrome (TS) is a neuropsychiatric disorder characterized by motor and vocal tics. Although TS is believed to have a pathophysiological basis in the basal ganglia, surprisingly little is known about the neural basis of the behavioral characteristics of this disorder. Using a sensory-motor fMRI paradigm, the present study investigates striatal functional activity in 18 TS patients as well as in 18 healthy controls. Using a sensory-motor continuous performance task, we observed that TS patients performed poorer than controls on a task in which participants must monitor and discriminate the direction of motion of a moving dot. Furthermore, a comparison of the neuroimaging data of TS patients and controls revealed that the TS group had reduced signal in the left putamen. Post hoc exploration of striatal activity of this group demonstrated that the TS patients were significantly less active in the right putamen during the sensory-motor task than during a control task that did not involve the motor component. To test the hypothesis that the reduced striatal activity was due to hyperactivity of subcortical pathways, we
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