Treatments in Aicardi-Goutières syndrome

Yanick J Crow, Jayakara Shetty, John H Livingston

Research output: Contribution to journalReview articlepeer-review


Comprehensive reviews of the clinical characteristics and pathogenesis of Aicardi-Goutières syndrome (AGS), particularly its contextualization within a putative type I interferonopathy framework, already exist. However, recent reports of attempts at treatment suggest that an assessment of the field from a therapeutic perspective is warranted at this time. Here, we briefly summarize the neurological phenotypes associated with mutations in the seven genes so far associated with AGS, rehearse current knowledge of the pathology as it relates to possible treatment approaches, critically appraise the potential utility of therapies, and discuss the challenges in assessing clinical efficacy.

Original languageEnglish
JournalDevelopmental medicine and child neurology
Early online date7 Jun 2019
Publication statusE-pub ahead of print - 7 Jun 2019


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