Article
Developmental Outcomes of Aicardi Goutières Syndrome.
Journal of child neurology - 1 Jan 2020
Adang Laura, Gavazzi Francesco, De Simone Micaela, Fazzi Elisa, Galli Jessica, Koh Jamie, Kramer-Golinkoff Julia, De Giorgis Valentina, Orcesi Simona, Peer Kyle, Ulrick Nicole, Woidill Sarah, Shults Justine, Vanderver Adeline
Abstract excerpt
Aicardi Goutières syndrome is a monogenic interferonopathy caused by abnormalities in the intracellular nucleic acid sensing machinery (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or IFIH1). Most individuals affected by Aicardi Goutières syndrome exhibit some degree of neurologic impairment, from spastic paraparesis with relatively preserved cognition to tetraparesis and severe intellectual disability....
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