Who discovered it?

In 1984, Jean Aicardi and Françoise Goutières described eight children, from five different families, showing a severe and progressive early-onset encephalopathy characterised by the presence of basal ganglia calcification, white matter abnormalities and chronic lymphocytosis in the CSF.
The recurrence of this picture in siblings whose parents were consanguineous, together with the finding that both males and females could be affected, immediately suggested that this was a disease inherited as an autosomal recessive trait, and at the same time highlighted the risk, from a clinical point of view, of mistaking this picture for the sequelae of congenital infection.
Aicardi drew attention to cases previously described in the literature that may be the same clinical entity.
A few years later, Dr P. Lebon (Professor Emeritus at the Université René Descartes, Paris) identified a further typical feature, helping to establish a more accurate diagnostic profile of the syndrome: the presence of raised levels of IFN in the CSF in the absence of demonstrable infections of the central nervous system. The eponym “Aicardi-Goutières syndrome” was used for the first time in 1992, and the years that followed saw a rapid increase in the number of new cases identified. By 2001, the year of the first International Meeting on AGS, held in Pavia, Italy, the number of known cases had risen to around 50, originating mainly from Europe and America, and there was a growing realisation that there probably existed many more cases, as yet unrecognised.
Thanks to the recent identification of 7 genes responsible for the syndrome and the definition of a broader and more heterogeneous clinical spectrum (the “interferonopathies”), the disease now shows a wider geographical distribution, with descriptions of cases in Africa and Asia, too. To date more than 350 genetically confirmed cases have been described and their data collected, thanks in particular to a recent EU-funded project.