由于丙酮酸脱氢酶复合体E1成分缺陷导致的家族性间歇性共济失调。

Familial intermittent ataxia due to a defect of the E1 component of pyruvate dehydrogenase complex.

作者信息

Bindoff L A, Birch-Machin M A, Farnsworth L, Gardner-Medwin D, Lindsay J G, Turnbull D M

机构信息

Division of Clinical Neuroscience, School of Neurosciences, University of Newcastle upon Tyne, U.K.

出版信息

J Neurol Sci. 1989 Nov;93(2-3):311-8. doi: 10.1016/0022-510x(89)90200-1.

DOI:10.1016/0022-510x(89)90200-1

PMID:2592988

Abstract

Disturbances of pyruvate metabolism have been implicated in the aetiology of several neurological disorders including Leigh's disease and familial ataxia. We have re-investigated a patient whose initial description documented intermittent ataxia, a presumed disorder of pyruvate metabolism and an X-linked pattern of inheritance. Recent studies showed he had slow oxidation of pyruvate, low pyruvate dehydrogenase complex (PDC) activity and immunochemical evidence of E1 deficiency in skeletal muscle mitochondria. This is consistent with the recent finding that the gene for E1 alpha is on the X chromosome.

摘要

丙酮酸代谢紊乱与包括 Leigh 病和家族性共济失调在内的几种神经疾病的病因有关。我们重新研究了一名患者，其最初的描述记录了间歇性共济失调、一种推测的丙酮酸代谢紊乱以及 X 连锁遗传模式。最近的研究表明，他的丙酮酸氧化缓慢，丙酮酸脱氢酶复合体（PDC）活性低，并且有骨骼肌线粒体中 E1 缺乏的免疫化学证据。这与最近发现的 E1α 基因位于 X 染色体上的结果一致。