LESCH-NYHAN SYNDROME - A STUDY OF MOTOR BEHAVIOR AND CEREBROSPINAL-FLUID NEUROTRANSMITTERS
LESCH-NYHAN SYNDROME - A STUDY OF MOTOR BEHAVIOR AND CEREBROSPINAL-FLUID NEUROTRANSMITTERS
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DOI：
10.1002/ana.410230507
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发表时间：
1988-05-01
影响因子：
11.2
通讯作者：
BUTLER, IJ
中科院分区：
文献类型：
--
作者：
JANKOVIC, J;CASKEY, TC;BUTLER, IJ
我们研究了5个男孩，2至10岁，明显或完全缺乏次黄嘌呤鸟嘌呤磷酸核糖转移酶和Lesch-Nyhan综合征不同程度的智力低下，构音障碍，舞蹈病，肌张力障碍，痉挛，共济失调。4例患者脑脊液（CSF）中高香草酸显著减少，所有患者均显示CSF 3-甲氧基-4-羟基苯乙二醇降低，表明多巴胺和去甲肾上腺素周转减少。3例患者表现出高CSF 5-羟基吲哚乙酸，表明血清素周转增加。一些患者在卡比多巴-左旋多巴治疗后有所改善，但另一些患者则从丁苯那嗪（一种单胺消耗剂）中获益。本研究为Lesch-Nyhan综合征中枢单胺代谢异常的理论提供了支持。
We studied 5 boys, 2 to 10 years old, with marked or complete deficiency of hypoxanthine-guanine phosphoribosyltransferase and Lesch-Nyhan syndrome with varying degrees of mental retardation, dysarthria, chorea, dystonia, spasticity, and ataxia. Four patients had marked reduction of homovanillic acid in the cerebrospinal fluid (CSF) and all showed low CSF 3-methoxy-4-hydroxy phenylethylene glycol, indicating reduced dopamine and norepinephrine turnover. Three patients showed high CSF 5-hydroxyindoleacetic acid, suggesting increased serotonin turnover. Some patients improved with carbidopa-levodopa, but others benefited from tetrabenazine, a monoamine-depleting agent. This study provides support for the theory of abnormal central monoamine metabolism in Lesch-Nyhan syndrome.