Sweeney M G, Hammans S R, Duchen L W, Cooper J M, Schapira A H, Kennedy C R, Jacobs J M, Youl B D, Morgan-Hughes J A, Harding A E
Department of Clinical Neurology, Institute of Neurology, London, UK.
J Neurol Sci. 1994 Jan;121(1):57-65. doi: 10.1016/0022-510x(94)90157-0.
An 18-year-old male patient presented with clinical and radiological evidence of Leigh's syndrome (LS), having developed progressive myoclonic epilepsy and ataxia 11 years previously. Muscle biopsy showed cytochrome oxidase deficiency but no ragged red fibres. Autopsy confirmed the diagnosis of LS; there was additional degenerative change in the cerebellum and dentate and olivary nuclei, and an axonal peripheral neuropathy. Biochemical studies showed reduced activity of complexes I and IV of the respiratory chain in mitochondria from heart, liver and kidney. The mutation of mitochondrial DNA (mtDNA) at position 8344, commonly associated with the syndrome of myoclonic epilepsy and ragged red fibres, was detected in the patient's blood and was present in muscle, brain, liver, heart, and kidney in uniformly high amounts. It is clear that LS is genetically heterogeneous and represents one of the most severe phenotypes of a number of different mtDNA defects.
一名18岁男性患者出现 Leigh 综合征（LS）的临床和影像学证据，11年前开始出现进行性肌阵挛癫痫和共济失调。肌肉活检显示细胞色素氧化酶缺乏，但无破碎红纤维。尸检确诊为LS；小脑、齿状核和橄榄核有额外的退行性改变，以及轴索性周围神经病。生化研究显示心脏、肝脏和肾脏线粒体中呼吸链复合体I和IV的活性降低。在患者血液中检测到线粒体DNA（mtDNA）第8344位的突变，该突变通常与肌阵挛癫痫伴破碎红纤维综合征相关，并且在肌肉、大脑、肝脏、心脏和肾脏中均大量存在。显然，LS在遗传上具有异质性，代表了多种不同mtDNA缺陷中最严重的表型之一。
