title: Aicardi-Goutières syndrome.
abstract: Aicardi-Goutieres syndrome is a familial progressive early onset encephalopathy with basal ganglia calcifications, chronic CSF lymphocytosis and high level of interferon-alpha in CSF. Cutaneous necrotic lesions and the neuropathological aspect of microangiopathy and microinfarctions suggest a vascular process in relation to elevated interferon-alpha. A genetic defect in the regulation of its synthesis may be the causal factor of the disorder.
authors.affiliation: 18 rue des Boulets, 75011 Paris, France.
authors.forename: Françoise
authors.initials: F
authors.lastname: Goutières
mesh_terms: D001480:Basal Ganglia Diseases / Q000134:cerebrospinal fluid / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000473:pathology; D002114:Calcinosis / Q000134:cerebrospinal fluid / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016898:Interferon-alpha / Q000134:cerebrospinal fluid*; D008218:Lymphocytosis / Q000134:cerebrospinal fluid / Q000235:genetics / Q000473:pathology; D009336:Necrosis / Q000473:pathology; D012871:Skin Diseases / Q000134:cerebrospinal fluid / Q000473:pathology
chemical_list: D016898:Interferon-alpha