Aicardi–Goutières syndrome

Not to be confused with Aicardi syndrome.
Aicardi–Goutières syndrome
A child with Aicardi–Goutières Syndrome, displaying characteristic impaired motor coordination
SpecialtyNeurology, medical genetics 
Symptomsspacicity, chilblains, microcephaly, intellectual disability, hypotonia of the torso, regression

Aicardi–Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi syndrome, is a rare, usually early onset childhood, inflammatory disorder most typically affecting the brain and the skin (neurodevelopmental disorder).[1][2] The majority of affected individuals experience significant intellectual and physical problems, although this is not always the case. The clinical features of AGS can mimic those of in utero acquired infection, and some characteristics of the condition also overlap with the autoimmune disease systemic lupus erythematosus (SLE).[3][4][5] Following an original description of eight cases in 1984,[1] the condition was first referred to as 'Aicardi–Goutières syndrome' (AGS) in 1992,[6] and the first international meeting on AGS was held in Pavia, Italy, in 2001.[7]

AGS can occur due to mutations in any one of a number of different genes, of which nine have been identified to date, namely: TREX1,[8] RNASEH2A, RNASEH2B, RNASEH2C (which together encode the ribonuclease H2 enzyme complex),[9] SAMHD1,[10] ADAR1,[11] and IFIH1 (coding for MDA5).[12] This neurological disease occurs in all populations worldwide, although it is almost certainly under-diagnosed. To date (2014) at least 400 cases of AGS are known.

  1. ^ a b Aicardi J, Goutieres F (1984). "A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis". Ann Neurol. 15 (1): 49–54. doi:10.1002/ana.410150109. PMID 6712192. S2CID 42800185.
  2. ^ Tolmie JL; Shillito P; Hughes-Benzie R; Stephenson JB (1995). "The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)". J Med Genet. 32 (11): 881–884. doi:10.1136/jmg.32.11.881. PMC 1051740. PMID 8592332.
  3. ^ Aicardi, J; Goutieres, F (2000). "Systemic lupus erythematosus or Aicardi-Goutieres syndrome?". Neuropediatrics. 31 (3): 113. doi:10.1055/s-2000-7533. PMID 10963096. S2CID 36933780.
  4. ^ Dale RC; Tang SP; Heckmatt JZ; Tatnall FM (2000). "Familial systemic lupus erythematosus and congenital infection-like syndrome". Neuropediatrics. 31 (3): 155–158. doi:10.1055/s-2000-7492. PMID 10963105. S2CID 39793944.
  5. ^ Crow, YJ; Livingston, JH (2008). "Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection". Dev Med Child Neurol. 50 (6): 410–416. doi:10.1111/j.1469-8749.2008.02062.x. PMID 18422679. S2CID 36342200.
  6. ^ Bonnemann, CG; Meinecke, P (1992). "Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis - another case of the Aicardi-Goutieres syndrome". Neuropediatrics. 23 (3): 157–61. doi:10.1055/s-2008-1071333. PMID 1641084. S2CID 23726903.
  7. ^ "Proceedings of the International Meeting on Aicardi-Goutieres Syndrome Pavia, Italy, 28-29 May 2001". Eur J Paediatr Neurol. 6, Suppl A: A1–86. 2002.
  8. ^ Crow, YJ; et al. (2006). "Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus". Nat Genet. 38 (8): 917–20. doi:10.1038/ng1845. PMID 16845398. S2CID 9069106.
  9. ^ Crow, YJ; et al. (2006). "Mutations in the genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection". Nat Genet. 38 (8): 910–6. doi:10.1038/ng1842. PMID 16845400. S2CID 8076225.
  10. ^ Rice, GI; et al. (2009). "Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response". Nat Genet. 41 (7): 829–32. doi:10.1038/ng.373. PMC 4154505. PMID 19525956.
  11. ^ Rice, GI; et al. (2012). "Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type 1 interferon signature". Nat Genet. 44 (11): 1243–8. doi:10.1038/ng.2414. PMC 4154508. PMID 23001123.
  12. ^ Rice, GI; et al. (2014). "Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type 1 interferon signaling". Nat Genet. 46 (5): 503–509. doi:10.1038/ng.2933. PMC 4004585. PMID 24686847.
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