MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study

@article{Tanahashi2000MELASWT,
  title={MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study},
  author={Chisato Tanahashi and Atsuo Nakayama and Mari Yoshida and Masayuki Ito and N. Mori and Yoshio Hashizume},
  journal={Acta Neuropathologica},
  year={2000},
  volume={99},
  pages={31-38}
}
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… CONTINUE READING