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亨廷顿舞蹈症患者催乳素释放受损:多巴胺能亢进的证据

Impaired prolactin release in Huntington's chorea. Evidence for dopaminergic excess.

作者信息

Hayden M R, Vinik A I, Paul M, Beighton P

出版信息

Lancet. 1977 Aug 27;2(8035):423-6. doi: 10.1016/s0140-6736(77)90608-0.

Abstract

Eight individuals with Huntington's chorea had low basal and impaired human prolactin responses to both chlorpromazine and thyrotrophin-releasing hormone. These findings are compatible with enhanced hypothalamic dopaminergic activity in this disease. Two juvenile rigid patients with Huntington's chorea had excessive prolactin responses to chlorpromazine. Approximately half of the twenty-three potentially affected first-degree relatives of patients with Huntington's chorea had normal prolactin responses to chlorpromazine. However, twelve had significantly abnormal responses-seven in one direction, and five in the other. The predictive value of these findings in terms of presymptomatic diagnosis will be revealed by a longitudinal study. A biochemical method for the early recognition of the condition would have profound implications for genetic counselling.

摘要

8名患有亨廷顿舞蹈症的个体基础水平较低,且对氯丙嗪和促甲状腺激素释放激素的人催乳素反应受损。这些发现与该疾病中下丘脑多巴胺能活性增强相符。两名患有亨廷顿舞蹈症的青少年强直型患者对氯丙嗪有过度的催乳素反应。在23名亨廷顿舞蹈症患者的潜在一级亲属中,约一半对氯丙嗪的催乳素反应正常。然而,有12人的反应明显异常——7人朝一个方向,5人朝另一个方向。这些发现对症状前诊断的预测价值将通过纵向研究揭示。一种早期识别该病症的生化方法将对遗传咨询产生深远影响。

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