Tags: Disease.
Aicardi–Goutières syndrome (AGS) is a congenital immune-mediated neurodevelopmental disorder caused by mutations in the SAMHD1 TREX1 Ribonuclease H2 (RNASEH2A RNASEH2B RNASEH2C) and ADAR genes. This neurological disease usually presents at the age of four months and is characterized by the neurological symptoms of cerebral calcification (accumulation of calcium) white matter abnormalities and cerebral atrophy.