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The most common of these disorders is Aicardi Gouti\u00e8res syndrome (AGS). AGS results in a phenotype similar to \u201cTORCH\u201d infections (<jats:italic>Toxoplasma gondii<\/jats:italic>, Other [Zika virus (ZIKV), human immunodeficiency virus (HIV)], Rubella virus, human Cytomegalovirus [HCMV], and Herpesviruses), but with sustained inflammation and ongoing potential for complications. AGS was first described in the early 1980s as familial clusters of \u201cTORCH\u201d infections, with severe neurology impairment, microcephaly, and basal ganglia calcifications (Aicardi &amp; Gouti\u00e8res, <jats:italic>Ann Neurol<\/jats:italic>, 1984;15:49\u201354) and was associated with chronic cerebrospinal fluid (CSF) lymphocytosis and elevated type I interferon levels (Gouti\u00e8res et al., <jats:italic>Ann Neurol<\/jats:italic>, 1998;44:900\u2013907). Since its first description, the clinical spectrum of AGS has dramatically expanded from the initial cohorts of children with severe impairment to including individuals with average intelligence and mild spastic paraparesis. This broad spectrum of potential clinical manifestations can result in a delayed diagnosis, which families cite as a major stressor. Additionally, a timely diagnosis is increasingly critical with emerging therapies targeting the interferon signaling pathway. Despite the many gains in understanding about AGS, there are still many gaps in our understanding of the cell\u2010type drivers of pathology and characterization of modifying variables that influence clinical outcomes and achievement of timely diagnosis.<\/jats:p>","DOI":"10.1002\/jimd.12721","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T11:45:11Z","timestamp":1709207111000},"page":"860-875","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Nucleotide metabolism, leukodystrophies, and <scp>CNS<\/scp> pathology"],"prefix":"10.1002","volume":"47","author":[{"given":"Francesco","family":"Gavazzi","sequence":"first","affiliation":[{"name":"Division of Neurology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos 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