Characterisation of Aicardi-Goutières syndrome

摘要

Since its first description in 1984 by Jean Aicardi and Francoise Goutieres,1 the progressive encephalopathy later called Aicardi-Goutieres syndrome (AGS) has been recognised as a severe disease with mainly infantile onset, characterised by spastic dystonic movement disorder, calcification of the basal ganglia, acquired microcephaly, and rapid progression towards profound deterioration and often early death. Even the first description stressed that the disorder was familial and "probably genetic in origin". Aicardi and Goutieres also emphasised that there was evidence for inflammatory processes affecting the CNS, because all patients had mild but persistent lymphocytosis in CSF. 4 years later, Lebon and colleagues2 reported high interferon a in seven of eight patients, underlining the inflammatory nature of the disorder. Nearly 20 years later, a monogenic although heterogeneous background of AGS was verified by identification of mutations in the subunits of four genes encoding the ribonucleaseTREXl and the genes encoding subunits of the ribonuclease H2 protein complex.