Van Woert M H, Jutkowitz R, Rosenbaum D, Bowers M B
Res Publ Assoc Res Nerv Ment Dis. 1976;55:459-65.
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.
氟哌啶醇是一种多巴胺受体阻断剂，是治疗抽动秽语综合征最有效的疗法。在5例抽动秽语综合征患者中，我们发现脑脊液中丙磺舒诱导的高香草酸（多巴胺的主要代谢产物）蓄积增加。这支持了抽动秽语症状与中枢神经系统中多巴胺能神经元放电增加有关的假说；氟哌啶醇通过阻断多巴胺受体来缓解这些症状。抽动秽语综合征与莱施-尼汉综合征的一些相似之处促使我们比较这两种疾病，我们从大量抽动秽语患者中获取了数据。在114例抽动秽语综合征患者填写的问卷中，自伤行为的发生率为43%，27%有痛风或高尿酸血症家族史，11%有抽动秽语综合征或抽搐家族史。我们提出，抽动秽语综合征可能是一种嘌呤代谢的遗传性疾病，可能导致神经递质异常，如脑多巴胺周转率增加。
