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Titolo:
FOLLOW-UP IN CARRIERS OF THE MELAS MUTATION WITHOUT STROKES
Autore:
DAMIAN MS; HERTEL A; SEIBEL P; REICHMANN H; BACHMANN G; SCHACHENMAYR W; HOER G; DORNDORF W;
Indirizzi:
UNIV DRESDEN,NEUROL KLIN,FETSCHERSTR 74 D-01307 DRESDEN GERMANY UNIV GIESSEN,DEPT NEUROL GIESSEN GERMANY UNIV GIESSEN,DEPT RADIOL GIESSEN GERMANY UNIV GIESSEN,INST NEUROPATHOL GIESSEN GERMANY UNIV DRESDEN,DEPT NEUROL D-01307 DRESDEN GERMANY UNIV FRANKFURT,DEPT NUCL MED D-6000 FRANKFURT GERMANY
Titolo Testata:
European neurology
fascicolo: 1, volume: 39, anno: 1998,
pagine: 9 - 15
SICI:
0014-3022(1998)39:1<9:FICOTM>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
POSITRON EMISSION TOMOGRAPHY; LACTIC-ACIDOSIS; MITOCHONDRIAL ENCEPHALOMYOPATHY; DIABETES-MELLITUS; EPISODES MELAS; TRANSFER RNALEU(UUR); LARGE PEDIGREE; MYOPATHY; ENCEPHALOPATHY; DISEASE;
Keywords:
MAGNETIC RESONANCE IMAGING; MELAS; MITOCHONDRIAL DISEASE; POSITRON EMISSION TOMOGRAPHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
M.S. Damian et al., "FOLLOW-UP IN CARRIERS OF THE MELAS MUTATION WITHOUT STROKES", European neurology, 39(1), 1998, pp. 9-15

Abstract

Eight carriers of the A3243G mutation of mitochondrial DNA without strokelike episodes were monitored for up to 7 years in clinical and metabolic studies, by magnetic resonance imaging (MRI) and positron emission tomography (PET). None developed mitochondrial encephalopathy (MELAS), but 2 developed diabetes mellitus, 1 terminal kidney failure and 2 cardiomyopathy. One patient improved markedly under ubiquinone. Electroencephalography showed progressive slowing in 2 cases, but electrophysiological tests and MRI were otherwise noncontributary. PET showed widespread cortical and basal ganglion metabolic deficits in 6 cases. We conclude that internal medical complications are more common than MELAS in adult carriers of the mutation. PET findings, firstly reportedin such patients, suggest that chronic subclinical encephalopathy is very frequent, and PET may play a role in monitoring in the future.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 14:57:55