亨廷顿舞蹈病患者脑脊液和血浆中游离及结合型γ-氨基丁酸的情况

Free and conjugated CSF and plasma GABA in Huntington's chorea.

作者信息

Uhlhaas S, Lange H, Wappenschmidt J, Olek K

出版信息

Acta Neurol Scand. 1986 Oct;74(4):261-5. doi: 10.1111/j.1600-0404.1986.tb03511.x.

DOI:10.1111/j.1600-0404.1986.tb03511.x

Abstract

Free and conjugated GABA concentrations were measured in CSF and plasma from 28 patients with manifest Huntington's chorea (HC) and 30 age- and sex-matched controls. GABA was determined by ion-exchange chromatography with fluorimetric detection (IE/F). Free and conjugated CSF GABA was significantly decreased in prolonged HC with advanced disease states and was suggested practicable as an additional diagnostic tool. However, in younger patients (less than 40 yrs) with a short period of HC (less than 2 yrs) an overlap with the age-matched normal range indicated GABA measurement inadequate to early diagnosis nor predictive for offspring at risk. An age-dependent decrease of conjugated CSF GABA was observed in patients and controls. The more pronounced decrease in patients might reflect the neurodegenerative feature of HC.

摘要

对28例显性亨廷顿舞蹈症（HC）患者以及30名年龄和性别匹配的对照者的脑脊液和血浆中的游离γ-氨基丁酸（GABA）和结合型GABA浓度进行了测量。采用离子交换色谱-荧光检测法（IE/F）测定GABA。在病程较长且病情较重的HC患者中，脑脊液中游离GABA和结合型GABA显著降低，提示其可作为一种辅助诊断工具。然而，对于年龄小于40岁、病程短于2年的HC患者，其GABA水平与年龄匹配的正常范围有重叠，表明GABA测量对于早期诊断不足，也无法预测有患病风险的后代。在患者和对照者中均观察到脑脊液结合型GABA随年龄下降。患者中更为明显的下降可能反映了HC的神经退行性特征。