REDUCTION OF BIOGENIC-AMINE LEVELS IN THE RETT SYNDROME
REDUCTION OF BIOGENIC-AMINE LEVELS IN THE RETT SYNDROME
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DOI：
10.1056/nejm198510103131504
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发表时间：
1985-01-01
影响因子：
158.5
通讯作者：
RICCARDI, VM
中科院分区：
文献类型：
--
作者：
ZOGHBI, HY;PERCY, AK;RICCARDI, VM
Rett综合征是女性患者中的一种进行性疾病，其特征在于自闭症行为、痴呆、共济失调、丧失有目的地使用手和癫痫发作。实验室检查结果通常正常，但脑电图除外。在试图了解这种综合征的发病机制，我们分析了生物胺代谢产物在6例患者的脑脊液中，2至15岁。采用气相色谱-质谱法对3-甲氧基-4-羟基苯基乙二醇（MHPG，去甲肾上腺素的代谢物）、高香草酸（多巴胺的代谢物）和5-羟基吲哚乙酸（5-HIAA，5-羟色胺的代谢物）进行定量。与同龄对照组相比，所有患者的MHPG和高香草酸水平均显著降低（分别为P = 0.01和0.008）。5-HIAA水平的降低与对照组相比无显著性差异（P = 0.15）。 这些研究结果表明，在Rett综合征的生物胺的潜在障碍，并可能提供新的见解，其发病机制。
The Rett syndrome is a progressive disorder in female patients that is characterized by autistic behavior, demetia, ataxia, loss of purposeful use of the hands,, and seizures. The results of laboratory investigations are usually normal, with the exception of electroencephalography. In an attempt to understand the pathogenesis of this syndrome, we assayed biogenic amine metabolites in the cerebrospinal fluid of six patients, 2 to 15 years of age. 3-Methoxy-4-hydroxyphenylethylene glycol (MHPG, a metabolite of norepinephrine), homovanillic acid (a metabolite of dopamine), and 5-hydroxyindoleacetic acid (5-HIAA, a metabolite of serotonin) were quantitated by a method involving gas chromatography and mass spectrometry. Levels of MHPG andhomovanillic acid were significantly reduced in all the patients as compared with those in controls of similar age (P = 0.01 and 0.008, respectively). The reduction in the level of 5-HIAA was not significantly differet from that in the controls (P = 0.15). These findings suggest an underlying disorder of biogenic amines in the Rett syndrome and may provide new insight into its pathogenesis.