Aicardi-Goutieres syndrome type 1

An autosomal dominant or recessive form of Aicardi-Goutieres syndrome (OMIM:225750), a genetically heterogeneous disease characterised by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic CSF lymphocytosis, increased CSF alpha-IFN, and negative serologies for common prenatal infections.
Clinical findings
Thrombocytopaenia, hepatosplenomegaly, elevated hepatic transaminases, intermittent fever; severe neurologic dysfunction in infancy including progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death is common in early childhood.
Molecular pathology
Defects of TREX1, which encodes a nuclear protein with 3' exonuclease activity, cause Aicardi-Goutieres syndrome.

单词	aicardi-goutieres syndrome type 1
释义	Aicardi-Goutieres syndrome type 1 Aicardi-Goutieres syndrome type 1 An autosomal dominant or recessive form of Aicardi-Goutieres syndrome (OMIM:225750), a genetically heterogeneous disease characterised by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic CSF lymphocytosis, increased CSF alpha-IFN, and negative serologies for common prenatal infections. Clinical findings Thrombocytopaenia, hepatosplenomegaly, elevated hepatic transaminases, intermittent fever; severe neurologic dysfunction in infancy including progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death is common in early childhood. Molecular pathology Defects of TREX1, which encodes a nuclear protein with 3' exonuclease activity, cause Aicardi-Goutieres syndrome.
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