弗里德赖希共济失调中的脂质与脂蛋白
Lipids and lipoproteins in Friedreich's ataxia.
作者信息
Walker J L, Chamberlain S, Robinson N
出版信息
J Neurol Neurosurg Psychiatry. 1980 Feb;43(2):111-7. doi: 10.1136/jnnp.43.2.111.
Friedreich's ataxia is an autosomal recessively inherited disease affecting the nervous system with a high incidence of heart involvement. Abnormalities of lipid metabolism are known to be associated with several progressive ataxic conditions. In this study of 46 Friedreich's ataxia patients, serum lipids, fatty acids and lipoproteins were assayed and compared with some earlier findings on Friedreich's ataxia and related disorders. Abnormalities of low and high density lipoproteins suggestive of a major defect have been reported; in the present study the level and chemical composition of high density lipoprotein has been assessed in 20 Friedreich's ataxia patients but previous abnormalities could not be substantiated. Lipid compositional analysis of Friedreich's ataxia central nervous tissue and heart, which has not been previously reported, did not markedly differ from control tissue.
弗里德赖希共济失调是一种常染色体隐性遗传疾病，会影响神经系统，心脏受累的发生率很高。已知脂质代谢异常与几种进行性共济失调病症有关。在这项对46例弗里德赖希共济失调患者的研究中，对血清脂质、脂肪酸和脂蛋白进行了检测，并与之前关于弗里德赖希共济失调及相关疾病的一些研究结果进行了比较。曾有报告称低密度和高密度脂蛋白异常提示存在主要缺陷；在本研究中，对20例弗里德赖希共济失调患者的高密度脂蛋白水平和化学成分进行了评估，但未能证实之前报告的异常情况。此前未报告过的弗里德赖希共济失调中枢神经组织和心脏的脂质成分分析结果与对照组织并无明显差异。
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