Alzheimer-type pathology in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
| Autor: | Shiro Yorifuji, H Imanishi, Hideki Yoshikawa, Misako Kaido, Koji Inui, Fumihisa Soga, Keiko Toyooka, T Higashi, Nishimura T, Harutoshi Fujimura, Takehiko Yanagihara |
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| Rok vydání: | 1996 |
| Předmět: |
Pathology
medicine.medical_specialty Encephalopathy Tau protein Biology MELAS syndrome Pathology and Forensic Medicine Cellular and Molecular Neuroscience Mitochondrial myopathy Alzheimer Disease medicine MELAS Syndrome Humans Senile plaques Myopathy Neurofibrillary Tangles Middle Aged medicine.disease Immunohistochemistry Pedigree Lactic acidosis biology.protein Female Neurology (clinical) medicine.symptom Alzheimer's disease |
| Zdroj: | Acta neuropathologica. 92(3) |
| ISSN: | 0001-6322 |
| Popis: | 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 beta-protein and mostly negative for tau protein, ubiquitin, neurofilaments, alpha-choline acetyltransferase, and acetylcholinesterase. Mutations in codon 331 of the ND2 gene as well as codons 693, 713 and 717 of the beta-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. |
| Databáze: | OpenAIRE |
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