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Titolo:
NEUROPHYSIOLOGICAL ABNORMALITIES IN ADRENOLEUKODYSTROPHY CARRIERS - EVIDENCE OF DIFFERENT DEGREES OF CENTRAL-NERVOUS-SYSTEM INVOLVEMENT
Autore:
RESTUCCIA D; DILAZZARO V; VALERIANI M; OLIVIERO A; LEPERA D; COLOSIMO C; BURDI N; CAPPA M; BERTINI E; DIBIASE A; TONALI P;
Indirizzi:
UNIV CATTOLICA SACRO CUORE,DEPT NEUROL,POLICLIN A GEMELLI,L GO A GEMELLI 8 I-00168 ROME ITALY UNIV CATTOLICA SACRO CUORE,DEPT RADIOL ROME ITALY UNIV CATTOLICA SACRO CUORE,DEPT NEUROL,POLICLIN A GEMELLI I-00168 ROME ITALY IST SUPER SANITA,DEPT METAB & PATHOL BIOCHEM I-00161 ROME ITALY IRCSS,BAMBINO GESU CHILDRENS HOSP PALIDORO ITALY IRCSS,BAMBINO GESU CHILDRENS HOSP ROME ITALY
Titolo Testata:
Brain
, volume: 120, anno: 1997,
parte:, 7
pagine: 1139 - 1148
SICI:
0006-8950(1997)120:<1139:NAIAC->2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
SOMATOSENSORY EVOKED-POTENTIALS; NEURAL GENERATORS; LORENZO OIL; SPINAL-CORD; ADRENOMYELONEUROPATHY; STIMULATION; BRAIN; P14; CONDUCTION; COMPONENTS;
Keywords:
SOMATOSENSORY EVOKED POTENTIALS; ADRENOLEUKODYSTROPHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
42
Recensione:
Indirizzi per estratti:
Citazione:
D. Restuccia et al., "NEUROPHYSIOLOGICAL ABNORMALITIES IN ADRENOLEUKODYSTROPHY CARRIERS - EVIDENCE OF DIFFERENT DEGREES OF CENTRAL-NERVOUS-SYSTEM INVOLVEMENT", Brain, 120, 1997, pp. 1139-1148

Abstract

We studied 19 women, heterozygous for adrenoleukodystrophy (ALD) in whom the carrier status was demonstrated by abnormally high plasma levels of very-long-chain fatty acids. Clinical examination revealed slight neurological signs in two patients, clear-cut neurological deficits in three, and it was fully normal in the remaining 14. All subjects underwent motor evoked potential (MEP) and somatosensory evoked potential (SEP) studies. Seventeen out of 19 subjects underwent brain MRI which demonstrated various degrees of abnormality in one asymptomatic and Jive symptomatic subjects; SEPs and MEPs revealed CNS involvement in 12 and 8 out of the 19 subjects, respectively Symptomatic patients showed severe neurophysiological abnormalities whereas milder but unequivocal EP abnormalities were Sound in seven of the 14 patients with normal clinical examination. Our data thus suggest CNS involvement in the majority of the ALD carriers, evident also in preclinical stages and progressively severe. The possibility of assessing different degrees of neurological involvement could be relevant for therapeutical purposes. Moreover neurophysiological studies could provide the only objective marker of functional nervous system involvement, e.g. in order to monitor the efficacy of treatment and in clinically and radiologically silent cases.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 10:43:45