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Titolo:
Aicardi-Goutieres syndrome: a genetic microangiopathy?
Autore:
Barth, PG; Walter, A; van Gelderen, I;
Indirizzi:
Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1100 DE Amsterdam, Netherlands Univ Amsterdam Amsterdam Netherlands NL-1100 DE E Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1100 DE Amsterdam, Netherlands Univ Amsterdam Amsterdam Netherlands NL-1100 DE E Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Neuropathol, NL-1100 DE Amsterdam, Netherlands Univ Amsterdam Amsterdam Netherlands NL-1100 DE E Amsterdam, Netherlands Inst Mentally Handicapped, Baarn, Netherlands Inst Mentally Handicapped Baarn Netherlands icapped, Baarn, Netherlands
Titolo Testata:
ACTA NEUROPATHOLOGICA
fascicolo: 2, volume: 98, anno: 1999,
pagine: 212 - 216
SICI:
0001-6322(199908)98:2<212:ASAGM>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROGRESSIVE FAMILIAL ENCEPHALOPATHY; FLUID LYMPHOCYTOSIS; BASAL GANGLIA; CALCIFICATION; CHILDREN; INFANCY;
Keywords:
basal ganglia; brain calcification; Aicardi-Goutibres syndrome; cerebrovascular disorders;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
13
Recensione:
Indirizzi per estratti:
Indirizzo: Barth, PG Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1100 DE Amsterdam,Netherlands Univ Amsterdam Amsterdam Netherlands NL-1100 DE m, Netherlands
Citazione:
P.G. Barth et al., "Aicardi-Goutieres syndrome: a genetic microangiopathy?", ACT NEUROP, 98(2), 1999, pp. 212-216

Abstract

Aicardi-Goutieres syndrome (AGS) (McKusick 225750) is an autosomal recessive disease with onset in the Ist year of life, resulting in progressive microcephaly, calcification of cerebral white matter, thalamus and basal ganglia, generalized cerebral demyelination and a chronic low-grade CSF lymphocytosis, without evidence of infection. We report the autopsy of a patient who died with this disorder at the age of 17 years. Findings were severe microencephaly, diffuse but inhomogeneous cerebral white matter loss with associated astrocytosis, calcific deposits in the white matter, thalami and basal ganglia. Neocortex and cerebellar cortex were affected by wedge-shaped microinfarctions. Small vessels showed calcification in the media, adventitiaand perivascular spaces. These findings are similar to some previous publications that in retrospect may have been AGS, but this is the first reported cerebral microangiopathy in which the diagnosis AGS was made during lifetime. This report provides evidence that microangiopathy plays a significantrole in the pathogenesis of AGS.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 17:39:26