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Titolo:
Aicardi-Goutieres syndrome: An update and results of interferon-alpha studies
Autore:
Goutieres, F; Aicardi, J; Barth, PG; Lebon, P;
Indirizzi:
Hop Necker Enfants Malad, Neuropediat Unit, F-75743 Paris 15, France Hop Necker Enfants Malad Paris France 15 Unit, F-75743 Paris 15, France Univ Paris 05, Virol Lab, Paris, France Univ Paris 05 Paris FranceUniv Paris 05, Virol Lab, Paris, France Inst Child Hlth, Wolfson Ctr, London, England Inst Child Hlth London England Child Hlth, Wolfson Ctr, London, England Univ105sterdam, Acad Med Ctr, Emma Childrens Hosp, Pediat Neurol Dept, NL-1 Univ Amsterdam Amsterdam Netherlands NL-1105 AZ Pediat Neurol Dept, NL-1
Titolo Testata:
ANNALS OF NEUROLOGY
fascicolo: 6, volume: 44, anno: 1998,
pagine: 900 - 907
SICI:
0364-5134(199812)44:6<900:ASAUAR>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROGRESSIVE FAMILIAL ENCEPHALOPATHY; CEREBROSPINAL-FLUID LYMPHOCYTOSIS; BASAL GANGLIA; INTRACRANIAL CALCIFICATION; INTRAUTERINE INFECTION; INTRATHECAL SYNTHESIS; INFANCY; CHILDREN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Goutieres, F Hop5,ecker Enfants Malad, Neuropediat Unit, 149 Rue Sevres, F-75743 Paris 1 Hop Necker Enfants Malad 149 Rue Sevres Paris France 15 is 1
Citazione:
F. Goutieres et al., "Aicardi-Goutieres syndrome: An update and results of interferon-alpha studies", ANN NEUROL, 44(6), 1998, pp. 900-907

Abstract

Twenty-seven patients with familiar encephalopathy with calcification of the basal ganglia and chronic cerebrospinal fluid (CSF) lymphocytosis (Aicardi-Goutieres syndrome) are reviewed. In 19 children, the onset was within the first 4 months of life. Most patients had normal head circumference at birth, but 21 developed microcephaly between 3 and 12 months. Neuroimaging showed severe and progressive brain atrophy in all patients. The extent and intensity of the calcification was variable even in the same sibship. CSF lymphocytosis persisted beyond 12 months of age in 7 children. High levels of interferon-alpha were found in serum and CSF in 14 patients. The higher CSF levels suggest intrathecal synthesis. Tubuloreticular inclusions relatedto the presence of interferon were found in 4 additional children. The 19 patients still alive (6 older than 10 years) are profoundly disabled. However, the syndrome may present with individual variations in severity, rapidity of evolution, and imaging features. Neuropathological examination in 2 patients failed to detect significant inflammatory lesions and showed only foci of necrosis and wide-spread demyelination. This study supports an autosomal recessive inheritance for this syndrome. The high level of interferon-a is not explained but may play a role in the pathogenesis of the disorder.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 18:18:38