Aicardi–Goutières syndrome

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

Aicardi–Goutières syndrome is a rare genetic disorder. It is also known as Cree encephalitis and pseudo-TORCH syndrome, both of which were once considered separate disorders.^[1] It is a type of leukodystrophy and is usually fatal within the first few years.^[2] It is autosomal recessive and presents within the first few weeks of life.^[2]

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.^[3] 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.^[4] 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.^[5]

See also

• TORCH complex

References

1. ^ Online 'Mendelian Inheritance in Man' (OMIM) Aicardi-Goutieres syndrome -225750
2. ^ ^{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. 
3. ^ 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. 
4. ^ 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. 
5. ^ "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

• GeneReviews/NCBI/NIH/UW entry on Aicardi-Goutières Syndrome
• OMIM entries on Aicardi-Goutieres syndrome
• Aicardi-Goutieres Syndrome at United Leukodystrophy Foundation website
• Aicardi-Goutieres Syndrome at NIH's Office of Rare Diseases
• Aicardi-Goutieres Syndrome 5 at NIH's Office of Rare Diseases