Aicardi-Goutieres syndrome type 1

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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.
References in periodicals archive ?
GOP16, GOP32, AGS1, AGS2, and the proposed method have similar performances.
Therefore, the corresponding coding performance of the proposed algorithm is significantly improved, achieving a 15.26% bit rate reduction and 1.67 dB PSNR gains, 7.84% bit rate reduction and 1.46 dB PSNR gains, and a 8.25% bit rate reduction and 0.95 dB PSNR gains when compared to GOP4, GOP32, and AGS1, respectively.
Cismowski, "Ags1," UCSD Nature Molecule Pages, 2007
McGinty, "Amphetamine up-regulates AGS1 mRNA and protein levels in rat frontal cortex: the role of dopamine and glucocorticoid receptors," Neuroscience, vol.