The Neuropathology of Aicardi-goutières Syndrome - a Review

Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurodegenerative disorder with unique characteristics which include CSF lymphocytosis, cytokine involvement (interferon alpha in plasma and in CSF), a unique distribution of cerebral calcifications, and early loss of myelin. Surprisingly only a very small number of detailed neuropathological studies are available. This paper summarizes the findings. Calcifications are both present as concretions and as perivascular cuffs of calcium surrounding small vessels. Small vessel involvement (microangiopathy) is apparent from a typical distribution of microinfarctions in at least one case studied. Together with signs of extracerebral vascular involvement known from earlier reports this finding points to microangiopathy as an important pathogenic mechanism in AGS.