Aicardi-Goutieres syndrome
| Aicardi-Goutieres syndrome | |
| OMIM | 225750 |
|---|---|
| DiseasesDB | 31680 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Cree encephalitis, pseudo-TORCH syndrome
Overview
Aicardi-Goutieres syndrome is a rare genetic disorder. It is a type of leukodystrophy and is usually fatal within the first few years.[1] It presents within the first few weeks of life.[1]
Historical Perspective
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. [2] 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 .
Classification
| 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 |
Pathophysiology
Genetics
It is autosomal recessive and presents within the first few weeks of life.[1] 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.[3]
Epidemiology and Demographics
Aicardi-Goutieres syndrome is very rare, with only about 50 cases having been described.
Treatment
Current treatment is supportive, involving management of seizures and spasticity associated with the syndrome. [4]
See also
References
- ↑ 1.0 1.1 1.2 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