Aicardi–Goutières syndrome

Aicardi–Goutières syndrome is a familial progressive early onset encephalopathy with basal ganglia calcifications, chronic CSF lymphocytosis and high level of interferon-α in CSF. Cutaneous necrotic lesions and the neuropathological aspect of microangiopathy and microinfarctions suggest a vascular p...

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Bibliographic Details
Published in:Brain & development (Tokyo. 1979) 2005-04, Vol.27 (3), p.201-206
Main Author: Goutières, Françoise
Format: Article
Language:English
Subjects:
Basal ganglia calcifications
Basal Ganglia Diseases - cerebrospinal fluid
Basal Ganglia Diseases - genetics
Basal Ganglia Diseases - pathology
Brain - pathology
Calcinosis - cerebrospinal fluid
Calcinosis - genetics
Calcinosis - pathology
CSF lymphocytosis
Diagnosis, Differential
Familial encephalopathy
Humans
Infant
Infant, Newborn
Interferon-alpha - cerebrospinal fluid
Interferon-α
Lymphocytosis - cerebrospinal fluid
Lymphocytosis - genetics
Lymphocytosis - pathology
Necrosis - pathology
Skin Diseases - cerebrospinal fluid
Skin Diseases - pathology
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Summary:Aicardi–Goutières syndrome is a familial progressive early onset encephalopathy with basal ganglia calcifications, chronic CSF lymphocytosis and high level of interferon-α in CSF. Cutaneous necrotic lesions and the neuropathological aspect of microangiopathy and microinfarctions suggest a vascular process in relation to elevated interferon-α. A genetic defect in the regulation of its synthesis may be the causal factor of the disorder.
ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2003.12.011