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Titolo:
ALZHEIMER-TYPE PATHOLOGY IN A PATIENT WITH MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS AND STROKE-LIKE EPISODES (MELAS)
Autore:
KAIDO M; FUJIMURA H; SOGA F; TOYOOKA K; YOSHIKAWA H; NISHIMURA T; HIGASHI T; INUI K; IMANISHI H; YORIFUJI S; YANAGIHARA T;
Indirizzi:
OSAKA UNIV,SCH MED,DEPT NEUROL,2-2 YAMADAOKA SUITA OSAKA 565 JAPAN OSAKA UNIV,SCH MED,DEPT PEDIAT SUITA OSAKA 565 JAPAN OSAKA TEISHIN HOSP,DEPT INTERNAL MED 1 OSAKA JAPAN OSAKA TEISHIN HOSP,DEPT PEDIAT OSAKA JAPAN
Titolo Testata:
Acta Neuropathologica
fascicolo: 3, volume: 92, anno: 1996,
pagine: 312 - 318
SICI:
0001-6322(1996)92:3<312:APIAPW>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSFER RNALEU(UUR) GENE; BLOOD-VESSELS; DISEASE; MUTATION; ENCEPHALOMYOPATHIES; FEATURES;
Keywords:
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY; LACTIC ACIDOSIS AND STROKE-LIKE EPISODES (MELAS); ALZHEIMER DISEASE; SENILE PLAQUE; BETA-PROTEIN; MITOCHONDRIAL DNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
M. Kaido et al., "ALZHEIMER-TYPE PATHOLOGY IN A PATIENT WITH MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS AND STROKE-LIKE EPISODES (MELAS)", Acta Neuropathologica, 92(3), 1996, pp. 312-318

Abstract

A 53-year-old Japanese woman with a point mutation in mitochondrial DNA (tRNA(Leu(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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/07/20 alle ore 17:26:16