Aicardi Goutières syndrome (AGS): management

Evidence-based neurology checklist on aicardi goutières syndrome (ags): management: Genetic classification and mutations AGS1: TREX1 (three prime repair exonuclease 1) AGS2: RNASET2A (ribonuclease H2 complex 2A) AGS3: RNASEH2B (ribonuclease H2 complex 2B) AGS4: RNASEH2C (ribonuclease H2 complex…

Genetic classification and mutations

  • AGS1: TREX1 (three prime repair exonuclease 1)
  • AGS2: RNASET2A (ribonuclease H2 complex 2A)
  • AGS3: RNASEH2B (ribonuclease H2 complex 2B)
  • AGS4: RNASEH2C (ribonuclease H2 complex 2C)
  • AGS5: SAMHD1 (SAM domain and HD domain 1)
  • AGS6: ADAR1 (adenosine deaminases acting on RNA)
  • AGS7: IFIH1 (interferon induced with helicase C domain 1)

Magnetic resonance imaging (MRI): features

Cerebrospinal fluid (CSF) analysis: features

Electroencephalography (EEG): features

References

  1. Ortiz-Madinaveitia S, Conejo-Moreno D, López-Pisón J, et al. Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases. Rev Neurol 2016; 62:165-169.
  2. La Piana R, Uggetti C, Roncarolo F, et al. Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome. Neurology 2016; 86:28-35.
  3. Straussberg R, Marom D, Sanado-Inbar E, et al. A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation. J Child Neurol 2015; 30:490-495.
  4. Rice GI, Rodero MP, Crow YJ. Human disease phenotypes associated with mutations in TREX1. J Clin Immunol 2015; 35:235-243.
  5. Tonduti D, Orcesi S, Jenkinson EM, et al. Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome. Eur J Paediatr Neurol 2016; 20:604-610.
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