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Aicardi-Goutieres syndrome 1 (AGS1)

AGS1 is a form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. AGS1 inheritance can be autosomal recessive or dominant.
AGS is an early-onset encephalopathy that usually results in severe intellectual and physical handicap. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly reminiscent of congenital infection.



OTHER NAME(S): AGS1 syndrome
AGS syndrome
encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis
cree encephalitis
pseudotoxoplasmosis syndrome
Aicardi-Goutieres syndrome 1, autosomal dominant, included


TYPE: microcephaly, neurodegenerative disease, mental retardation (MR), skin problem, immunodeficiency

Related patway(s): Fanconi anemia (FA) pathway

DNAtraffic protein(s) related to disease: TREX1 (DNase III)

OMIM: 225750

Last modification date: Feb. 15, 2012