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Titolo:
CEREBRAL ADRENOLEUKODYSTROPHY (ALD) IN ONLY ONE OF MONOZYGOTIC TWINS WITH AN IDENTICAL ALD GENOTYPE
Autore:
KORENKE GC; FUCHS S; KRASEMANN E; DOERR HG; WILICHOWSKI E; HUNNEMAN DH; HANEFELD F;
Indirizzi:
UNIV GOTTINGEN,DEPT PAEDIAT & NEUROPAEDIAT,ROBERT KOCH STR 40 D-37075GOTTINGEN GERMANY UNIV GOTTINGEN,DEPT PAEDIAT & NEUROPAEDIAT D-37075 GOTTINGEN GERMANY UNIV GOTTINGEN,INST HUMAN GENET D-37075 GOTTINGEN GERMANY UNIV HAMBURG,INST HUMAN GENET D-2000 HAMBURG GERMANY UNIV ERLANGEN NURNBERG,DEPT PAEDIAT D-8520 ERLANGEN GERMANY
Titolo Testata:
Annals of neurology
fascicolo: 2, volume: 40, anno: 1996,
pagine: 254 - 257
SICI:
0364-5134(1996)40:2<254:CA(IOO>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
X-LINKED ADRENOLEUKODYSTROPHY; GENE; HETEROGENEITY; EXPRESSION; MUTATIONS; DISEASE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
15
Recensione:
Indirizzi per estratti:
Citazione:
G.C. Korenke et al., "CEREBRAL ADRENOLEUKODYSTROPHY (ALD) IN ONLY ONE OF MONOZYGOTIC TWINS WITH AN IDENTICAL ALD GENOTYPE", Annals of neurology, 40(2), 1996, pp. 254-257

Abstract

We report on monozygotic twins with different clinical phenotypes of X-linked adrenoleukodystrophy. At the age of 10 years both boys were neurologically asymptomatic. The first cranial magnetic resonance examination showed normal findings in the first twin and parietooccipital demyelination in the second. The latter developed behavioral problems 9months later, followed by visual impairment and gait ataxia. His cranial magnetic resonance image at the age of 11 years showed progressivedemyelination. In contrast, neurological status and magnetic resonance images remained normal in the first twin. The same point mutation inexon 8 of the adrenoleukodystrophy gene (C2203T) was detected in bothboys. All genotype examinations were consistent with the diagnosis ofmonozygotic twins, suggesting that some nongenetic factors may be important for different adrenoleukodystrophy phenotypes.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/10/20 alle ore 03:57:56