Tanahashi C, Nakayama A, Yoshida M, Ito M, Mori N, Hashizume Y
Department of Pathology, Nagoya University School of Medicine, Japan.
Acta Neuropathol. 2000 Jan;99(1):31-8. doi: 10.1007/pl00007403.
We performed a neuropathological examination of the central nervous system from seven autopsied patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Five of the seven cases were confirmed to have the mitochondrial DNA (mtDNA) 3243 point mutation. In addition to the changes reported previously, diffuse atrophy of the cerebral and cerebellar cortices, diffuse gliosis of cerebral and cerebellar white matter, and cactus formation of Purkinje cells were observed. Electron microscopy revealed accumulation of mitochondria in the cactus formations. These lesions are common in MELAS with the mtDNA 3243 point mutation, but cannot be explained solely by mitochondrial angiopathy, and suggest that intrinsic mitochondrial malfunction contributes to neuronal damage in MELAS pathology. Moreover, the pathological changes observed in the cerebellum suggest that cerebellar function should be evaluated more carefully at the clinical level.
我们对7例线粒体肌病、脑病、乳酸酸中毒伴卒中样发作（MELAS）患者的中枢神经系统进行了神经病理学检查。7例中有5例被证实存在线粒体DNA（mtDNA）3243位点突变。除了先前报道的改变外，还观察到大脑和小脑皮质弥漫性萎缩、大脑和小脑白质弥漫性胶质增生以及浦肯野细胞形成仙人掌样结构。电子显微镜检查显示在仙人掌样结构中有线粒体聚集。这些病变在伴有mtDNA 3243位点突变的MELAS中很常见，但不能仅用线粒体血管病来解释，提示内在的线粒体功能障碍在MELAS病理学中导致神经元损伤。此外，在小脑中观察到的病理变化表明，在临床层面应更仔细地评估小脑功能。
