Aicardi–Goutières syndrome

Aicardi-Goutières syndrome
Classification and external resources
OMIM 225750
DiseasesDB 31680
GeneReviews Aicardi-Goutières Syndrome

Aicardi–Goutières syndrome is a rare immunological and neurodegenerative genetic disorder caused by the mutation of any of the five genes described below [1]. It is also known as Cree encephalitis and pseudo-TORCH syndrome, both of which were once considered separate disorders.[2] It is a type of leukodystrophy and is usually fatal within the first few years.[3] It is autosomal recessive and presents within the first few weeks of life.[3]

Contents

History

Aicardi–Goutières syndrome was initially described by Jean Aicardi and Françoise Goutières in 1984, based on observations of eight cases of early-onset progressive familial encephalopathy, with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.[4] Further clinical studies included 11 cases of early-onset progressive encephalopathy in a Cree community in Canada, described in 1988, which were given the name Cree encephalitis .

Causes

Later work mapped the Aicardi–Goutières syndrome to chromosome 3p21 and suggested that the two, along with the pseudo-TORCH (toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus types 1 and 2) syndrome were the same disorder.

The condition has been associated with TREX1.[5] Due to the rarity of mutations in the genes associated with the disease, and its autosomal recessive nature, cases are isolated to consanguineous families. As such, it is frequently described as an autozygosity disease.

Types include:

Type OMIM Gene Locus
AGS1 225750 TREX1 3p21.3-p21.2
AGS2 610181 RNASEH2B 13q
AGS3 610329 RNASEH2C 11q13.2
AGS4 610333 RNASEH2A 19p13.13
AGS5 612952 SAMHD1 20

Epidemiology

Aicardi–Goutières syndrome is very rare, with only about 50 cases having been described.

Treatment and prognosis

Current treatment is supportive, involving management of seizures and spasticity associated with the syndrome.[6]

See also

References

  1. ^ Chahwan, C.; Chahwan, R. (2012). "Aicardi-Goutieres Syndrome: from patients to genes and beyond". Clinical genetics. PMID 22149989. 
  2. ^ Online 'Mendelian Inheritance in Man' (OMIM) Aicardi-Goutieres syndrome -225750
  3. ^ a b Barker, Roger A.; Neil Scolding, Dominic Rowe, Andrew J. Larner (2005). The A-Z of Neurological Practice: A Guide to Clinical Neurology. Cambridge University Press. p. 21. ISBN 0-521-62960-8. http://books.google.com/?id=LRRiuFfr9UkC. 
  4. ^ Aicardi, J.; Goutières, F. (1984). "A Progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis". Annals of Neurology 15 (1): 49–54. doi:10.1002/ana.410150109. PMID 6712192. 
  5. ^ Crow, Yanick J; Hayward, Bruce E; Parmar, Rekha; Robins, Peter; Leitch, Andrea; Ali, Manir; Black, Deborah N; Van Bokhoven, Hans et al. (2006). "Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus". Nature Genetics 38 (8): 917–20. doi:10.1038/ng1845. PMID 16845398. 
  6. ^ "Learning about Aicardi-Goutières Syndrome". International Aicardi-Goutières Syndrome Association. Archived from the original on 2008-01-21. http://web.archive.org/web/20080121205623/http://www.aicardi-goutieres.com/berichte/learning.htm. Retrieved 2008-05-21. 

External Links

DNA replication

Separation/initiation: RNASEH2A (Aicardi–Goutières syndrome 4)

Termination/telomerase: DKC1 (Dyskeratosis congenita)
DNA repair
Other
see also DNA replication, DNA repair
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk