What is Aicardi-GoutiŤres syndrome?

Aicardi-Goutières syndrome (AGS) is a genetic inflammatory disease that primarily affects the brain and the skin. It is most frequently inherited in an autosomal recessive  manner.
The main clinical features of AGS are microcephaly, neurological signs of pyramidal and extrapyramidal tract involvement, cerebral calcification, leukodystrophy, cerebral atrophy, lymphocytosis and raised levels of interferon-alpha (IFN) in the cerebrospinal fluid (CSF), and increased expression of interferon-stimulated genes (the “interferon signature”).