Aicardi-Goutieres syndrome
| Aicardi-Goutieres syndrome | |
| OMIM | 225750 |
|---|---|
| DiseasesDB | 31680 |
Aicardi-Goutieres 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-Goutieres 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-Goutieres 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]
Epidemiology
Aicardi-Goutieres 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 associted with the syndrome. [5]
See also
References
- ↑ Online Mendelian Inheritance in Man (OMIM) Aicardi-Goutieres syndrome -225750
- ↑ 2.0 2.1 Barker, Roger A. (2005). The A-Z of Neurological Practice: A Guide to Clinical Neurology. Cambridge University Press. p. 21. ISBN 0521629608. Unknown parameter
|coauthors=ignored (help) - ↑ Aicardi, Jean (1984). "A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis". Ann Neuro. 15 (1): 49–54. Unknown parameter
|coauthors=ignored (help) - ↑ Crow YJ, Hayward BE, Parmar R; et al. (2006). "Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus". Nat. Genet. 38 (8): 917–20. doi:10.1038/ng1845. PMID 16845398. Unknown parameter
|month=ignored (help) - ↑ "Learning about Aicardi-Goutières Syndrome". International Aicardi-Goutières Syndrome Association. Retrieved 2008-05-21.
External links
- Aicardi-Goutieres Syndrome at United Leukodystrophy Foundation website
- Template:RareDiseases
- Template:RareDiseases