Aicardi-Goutieres syndrome type 1

(redirected from AGS1)
Also found in: Acronyms.

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 ?
The coding efficiency of AGS1 slightly outperforms GOP32.
GOP16, GOP32, AGS1, AGS2, and the proposed method have similar performances.
95 dB PSNR gains when compared to GOP4, GOP32, and AGS1, respectively.