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Titolo:
ABNORMAL BRAIN AND MUSCLE ENERGY-METABOLISM SHOWN BY P-31-MRS IN FAMILIAL HEMIPLEGIC MIGRAINE
Autore:
UNCINI A; LODI R; DIMUZIO A; SILVESTRI G; SERVIDEI S; LUGARESI A; IOTTI S; ZANIOL P; BARBIROLI B;
Indirizzi:
UNIV BOLOGNA,INST MED PATHOL B D CAMPANACCI,DEPT CLIN BIOCHEM,VIA MASSARENTI 9 I-40138 BOLOGNA ITALY UNIV BOLOGNA,INST MED PATHOL B D CAMPANACCI,DEPT CLIN BIOCHEM I-40138BOLOGNA ITALY UNIV CHIETI,CTR NEUROMUSCULAR DIS CHIETI ITALY CATHOLIC UNIV ROME,INST NEUROL ROME ITALY UNIV MODENA,INST RADIOL MODENA ITALY
Titolo Testata:
Journal of the neurological sciences
fascicolo: 2, volume: 129, anno: 1995,
pagine: 214 - 222
SICI:
0022-510X(1995)129:2<214:ABAMES>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
MAGNETIC-RESONANCE SPECTROSCOPY; HUMAN MITOCHONDRIAL MYOPATHIES; HUMAN SKELETAL-MUSCLE; P-31-NMR SPECTROSCOPY; OXIDATIVE-METABOLISM; RABBIT BRAIN; INVIVO; NMR; DNA; EXERCISE;
Keywords:
P-31-NMR SPECTROSCOPY; FAMILIAR HEMIPLEGIC MIGRAINE (FHM); MITOCHONDRIAL FUNCTION; BRAIN ENERGY METABOLISM; MUSCLE BIOENERGETICS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
59
Recensione:
Indirizzi per estratti:
Citazione:
A. Uncini et al., "ABNORMAL BRAIN AND MUSCLE ENERGY-METABOLISM SHOWN BY P-31-MRS IN FAMILIAL HEMIPLEGIC MIGRAINE", Journal of the neurological sciences, 129(2), 1995, pp. 214-222

Abstract

Familial hemiplegic migraine (FHM) is a rare autosomal dominant disorder of unknown pathogenesis characterized by migraine and transitory hemiplegic attacks. We describe a kindred fulfilling the diagnostic criteria for FHM in which: (1) brain phosphorus magnetic resonance spectroscopy (P-31-MRS) showed a reduced phosphocreatine content accompaniedby high [ADP], high percentage of V/Vmax of ATP biosynthesis and decreased phosphorylation potential; (2) muscle P-31-MRS showed a reduced rate of phosphocreatine recovery after exercise; (3) blood lactate wasincreased after effort; (4) muscle biopsy showed, in one patient, rare ragged red fibers succinate-dehydrogenase positive and cytochrome c oxidase negative; (5) genetic analysis of muscle mitochondrial DNA didnot show any of the two point mutations in the tRNA(Leu(UUR)) associated with the MELAS syndrome (Mitochondrial myopathy, Encephalopathy with Lactic Acidosis and Stroke-like episodes). The defective energy metabolism of brain and muscle found in this pedigree suggests a multisystemic disorder of mitochondrial function in this FHM pedigree.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 19:38:55