Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018099 (gout)
 5,192 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The histories of seven consecutive cases of Gilles de la Tourette's syndrome are presented to exemplify the range of clinical manifestations in this disease and to collate preliminary results with the new benzodiazepine, clonazepam, as possible adjuvant therapy of this disorder. Controlled trials with clonazepam alone and in association with haloperidol are now justified. Five of our 7 patients had a positive family history of tics, and 2 a confirmed family history of gout. Because clonazepam improves myoclonia and tics and because its mechanism of action possibly involves serotonin, we thought it worthwhile to study simultaneously the relative roles of serotonin and dopamine metabolism in the production of tics, and their relationship to possible defects in purine metabolism in Gilles de la Tourette's syndrome.
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PMID:Seven cases of Gilles de la tourette's syndrome: partial relief with clonazepam: a pilot study. 27 17

Haloperidol, a dopamine receptor blocking agent, is the most effective therapy for Tourette's syndrome. In five patients with Tourette's syndrome, we found in the CSF an elevated probenecid-induced accumulation of HVA, the major metabolite of dopamine. This supports the hypothesis that Tourette symptoms are related to an increased firing of dopaminergic neurons in the central nervous system; haloperidol relieves these symptoms by blocking dopamine receptors. Some similarities of Tourette's syndrome to Lesch-Nyhan's syndrome prompted us to compare these two disorders, obtaining data from a large number of Tourette patients. In a questionnaire completed by 114 patients with Tourette's syndrome, the incidence of self-destructive behavior was 43%, a family history of gout or hyperuricemia was present in 27%, and 11% had a family history of Tourette's syndrome or tics. We propose that Tourette's syndrome could be a genetic disorder of purine metabolism which may result in neurotransmitter abnormalities such as an increased brain dopamine turnover.
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PMID:Gilles de la Tourette's syndrome: biochemical approaches. 107 64