期刊
BRAIN & DEVELOPMENT
卷 27, 期 3, 页码 201-206出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2003.12.011
关键词
familial encephalopathy; basal ganglia calcifications; CSF lymphocytosis; interferon-alpha
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. (c) 2004 Published by Elsevier B.V.
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