Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21
نویسندگان
چکیده
منابع مشابه
[Aicardi-Goutières syndrome].
INTRODUCTION Aicardi-Goutières syndrome (AGS) is an autosomal recessive encephalopathy characterized by acquired microcephaly, cerebral calcifications, leukodystrophy, cerebral atrophy and cerebrospinal fluid findings of chronic lymphocytosis and raised interferon-alpha (INF-alpha). The main extraneurological symptoms are chilblain-like skin lesions, usually on the fingers, toes and ears. SOU...
متن کاملAicardi-Goutières syndrome.
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 sy...
متن کاملInterferon and Aicardi-Goutières syndrome.
There are two types of interferon (IFN), as you know already, and the interferon which we are interested in for this syndrome is type 1 IFN, specifically the alpha type. Interferons are proteins produced by the host in response to viral infection. Interferon alpha and beta(type I) are not normally detected in blood of healthy people, but they are found mostly in different specimens of patients ...
متن کاملAdult-onset dystonia in Aicardi-Goutières syndrome.
Aicardi-Goutières syndrome (AGS) is a rare, genetically determined encephalopathy with features mimicking congenital infection (microcephaly, bilateral basal ganglia calcifications, cerebral white matter abnormalities, cerebral atrophy, chronic CSF lymphocytosis, and elevated CSF INF-a). Disease onset usually occurs during the first year of life as a subacute encephalopathy and then the clinica...
متن کاملAicardi-Goutières syndrome: differential diagnosis and aetiopathogenesis.
Aicardi-Goutières syndrome (AGS) is a progressive encephalopathy with onset in the first year of life and a recessive autosomal pattern of inheritance. The syndrome is characterised by acquired microcephaly, basal ganglia calcifications, white matter abnormalities, chronic cerebrospinal fluid (CSF) lymphocytosis and raised interferon-alpha (INF-alpha) in the CSF. AGS is diagnosed on the basis o...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2000
ISSN: 0002-9297
DOI: 10.1086/302955