Aicardi Goutières syndrome (AGS): clinical features
Evidence-based neurology checklist on aicardi goutières syndrome (ags): clinical features: Pathogenesis This is an immune–mediated neurodevelopmental disorder There is induction of type 1 interferon production This is associated with upregulation of interferon stimulated genes There is possible…
Pathogenesis
- This is an immune–mediated neurodevelopmental disorder
- There is induction of type 1 interferon production
- This is associated with upregulation of interferon stimulated genes
- There is possible associated astrocyte dysfunction
Neurological features
Autoimmune features
Systemic features
Restricted phenotypes associated with AGS1 (TREX1)
Restricted phenotypes associated with AGS6 (ADAR1)
Differential diagnosis
References
- Uyur Yalçın E, Maraş Genç H, Kara B. Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation. Turk J Pediatr. 2015; 57:504-508.
- 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.
- Schmelzer L, Smitka M, Wolf C, et al. Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene. Eur J Paediatr Neurol 2018; 22:186-189.
- Abdel-Salam GMH, Abdel-Hamid MS, Mohammad SA, et al. Aicardi-Goutières syndrome: unusual neuro-radiological manifestations. Metab Brain Dis 2017; 32:679-683.
- La Piana R, Tran LT, Guerrero K, et al. Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome. Neuropediatrics 2014; 45:406-410.
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