Makino M, Horai S, Goto Y, Nonaka I
Department of Laboratory Medicine, National Center Hospital for Mental, Nervous and Muscular Disorders, Tokyo, Japan.
Neuromuscul Disord. 1998 May;8(3-4):149-51. doi: 10.1016/s0960-8966(98)00017-0.
Among 80 patients with the clinical and brain imaging characteristics of Leigh's syndrome, 11 patients had a well-known mutation at nucleotide position (nt) 8993 in mitochondrial DNA. In addition, three patients had a T-to-C mutation at nt 9176 which had been described previously in only two brothers with bilateral striatal necrosis and one patient with Leigh's syndrome. In our three patients, one had the typical clinical characteristics of Leigh's syndrome from early infancy, and two had the later onset of neurological deficits. All had a slowly progressive course and basal ganglia abnormalities by neuroimaging. As nt 8993 and 9176 are located in the ATPase 6 coding region, altered ATPase function may be one of the enzyme abnormalities in Leigh's syndrome and other similar conditions with bilateral striatal necrosis.
在80例具有Leigh综合征临床和脑成像特征的患者中，11例患者的线粒体DNA核苷酸位置（nt）8993存在已知突变。此外，3例患者在nt 9176处发生了T到C的突变，此前仅在两名患有双侧纹状体坏死的兄弟和一名患有Leigh综合征的患者中描述过该突变。在我们的3例患者中，1例从婴儿早期就具有Leigh综合征的典型临床特征，2例出现较晚的神经功能缺损。所有患者病程均呈缓慢进展，神经影像学显示基底节异常。由于nt 8993和9176位于ATP酶6编码区域，ATP酶功能改变可能是Leigh综合征以及其他伴有双侧纹状体坏死的类似病症中酶异常之一。
