Acta Neuropathologica

, Volume 92, Issue 3, pp 312–318

Alzheimer-type pathology in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)

  • M. Kaido
  • H. Fujimura
  • F. Soga
  • K. Toyooka
  • H. Yoshikawa
  • T. Nishimura
  • T. Higashi
  • K. Inui
  • H. Imanishi
  • S. Yorifuji
  • T. Yanagihara
Case report

DOI: 10.1007/s004010050524

Cite this article as:
Kaido, M., Fujimura, H., Soga, F. et al. Acta Neuropathol (1996) 92: 312. doi:10.1007/s004010050524

Abstract

A 53-year-old Japanese woman with a point mutation in mitochondrial DNA (tRNALeu(UUR), nt3243) consistent with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and Alzheimer-type brain pathology is reported. This woman had suffered myopathy and psychosis without any clinical evidence of, stroke-like episodes during the last 10 years of her life, and had died after an accident. At autopsy 30 h post mortem, a part of the brain was snap frozen for biochemical and histochemical studies, and the remaining part was processed for a routine examination and electron microscopy. In the brain there were no ischemic lesions. Instead, primitive/diffuse senile plaques were found throughout the brain, predominantly in the frontal and temporal lobes, while Alzheimer neurofibrillary tangles were found only in the parahippocampal gyrus. These plaques were positive for β-protein and mostly negative for tau protein, ubiquitin, neurofilaments, α-choline acetyltransferase, and acetylcholinesterase. Mutations in codon 331 of the ND2 gene as well as codons 693, 713 and 717 of the β-amyloid precursor protein gene, known to be responsible for some cases of familial Alzheimer disease, were not found. Furthermore, coincidental Down syndrome was ruled out by chromosome analysis. The results suggest a possible correlation between this mitochondrial DNA abnormality and Alzheimer-type pathology.

Key words Mitochondrial myopathy encephalopathy Lactic acidosis and stroke-like episodes (MELAS) Alzheimer disease Senile plaque β-protein Mitochondrial DNA 

Copyright information

© Springer-Verlag Berlin Heidelberg 1996

Authors and Affiliations

  • M. Kaido
    • 1
  • H. Fujimura
    • 1
  • F. Soga
    • 1
  • K. Toyooka
    • 1
  • H. Yoshikawa
    • 1
  • T. Nishimura
    • 1
  • T. Higashi
    • 3
  • K. Inui
    • 2
  • H. Imanishi
    • 4
  • S. Yorifuji
    • 1
  • T. Yanagihara
    • 1
  1. 1.Department of Neurology, Osaka University Medical School, Osaka, JapanJP
  2. 2.Department of Pediatrics, Osaka University Medical School, Osaka, JapanJP
  3. 3.The First Department of Internal Medicine, Osaka Teishin Hospital, Osaka, JapanJP
  4. 4.Department of Pediatrics, Osaka Teishin Hospital, Osaka, JapanJP
  5. 5.Department of Neurology, Osaka University Medical School, 2-2 Yamadaoka, Suita, Osaka 565, Japan Tel.: 6-879-3571; Fax: 6-879-3579JP