Late-onset Aicardi Gouti ères syndrome: a characterization of presenting clinical features

Aicardi Gouti ères Syndrome (AGS) is a genetic interferonopathy characterized by early onset of severe neurologic injury with intracranial calcifications, leukoencephalopathy, and systemic inflammation. Increasingly, a spectrum of neurologic dysfunction and presentation beyond the infantile period is being recog nized in AGS. The aim of this study was to characterize late-infantile and juvenile onset AGS.

Source: Pediatric Neurology - November 1, 2020 Category: Neurology Authors: Cara Piccoli, Nowa Bronner, Francesco Gavazzi, Holly Dubbs, Micaela De Simone, Valentina De Giorgis, Simona Orcesi, Elisa Fazzi, Jessica Galli, Silvia Masnada, Davide Tonduti, Costanza Varesio, Adeline Vanderver, Arastoo Vossough, Laura Adang Tags: Research Paper Source Type: research