Treatments in Aicardi-Goutières syndrome

Dev Med Child Neurol. 2020 Jan;62(1):42-47. doi: 10.1111/dmcn.14268. Epub 2019 Jun 7.


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. WHAT THIS PAPER ADDS: Progress in understanding AGS disease pathogenesis has led to the first attempts at targeted treatment. Further rational therapies are expected to become available in the short- to medium-term.

Publication types

  • Review

MeSH terms

  • Autoimmune Diseases of the Nervous System / etiology
  • Autoimmune Diseases of the Nervous System / genetics
  • Autoimmune Diseases of the Nervous System / immunology
  • Autoimmune Diseases of the Nervous System / therapy*
  • Humans
  • Nervous System Malformations / etiology
  • Nervous System Malformations / genetics
  • Nervous System Malformations / immunology
  • Nervous System Malformations / therapy*

Supplementary concepts

  • Aicardi-Goutieres syndrome