Aicardi-Goutieres syndrome 1

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Aicardi-Goutieres syndrome 12016-11-24T14:48:05+00:00

Aicardi-Goutieres syndrome 1

NEUROLOGY

Definition A genetically heterogeneous condition (OMIM:225750) characterised by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic CSF lymphocytosis, increased CSF alpha-IFN, and negative serologies for common prenatal infections.

Clinical findings Thrombocytopenia, hepatosplenomegaly, elevated hepatic transaminases, intermittent fever; severe neurologic dysfunction in infancy as 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 1.

Synonyms Cree encephalitis, encephalopathy—familial infantile—with intracranial calcification and chronic cerebrospinal fluid lymphocytosis, pseudotoxoplasmosis syndrome 

References http://www.uniprot.org/uniprot/Q9NSU2

http://www.omim.org/entry/225750

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