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

Treatments in Aicardi-Goutières syndrome

Yanick J Crow  1   2 , Jayakara Shetty  3   4 , John H Livingston  5
Affiliations
Free article
Review

Treatments in Aicardi-Goutières syndrome

Yanick J Crow et al. Dev Med Child Neurol. 2020 Jan.
Free article

Abstract

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.

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References

    1. Aicardi J, Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 1984; 15: 49-54.
    1. Crow YJ, Manel N. Aicardi- Goutières syndrome and the type I interferonopathies. Nat Rev Immunol 2015; 15: 429-40.
    1. Rodero MP, Crow YJ. Type I interferon-mediated monogenic autoinflammation: the type I interferonopathies, a conceptual overview. J Exp Med 2016; 213: 2527-38.
    1. Livingston JH, Crow YJ. Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutieres syndrome and beyond. Neuropediatrics 2016; 47: 355-60.
    1. Livingston JH, Lin JP, Dale RC, et al. A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. J Med Genet 2014; 51: 76-82.

MeSH terms

Supplementary concepts