Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Aicardi-Goutieres syndrome
Introduction
Synonyms and keywords: Cree encephalitis, pseudo-TORCH syndrome
Overview
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
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
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
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.
Epidemiology and Demographics
Epidemiology and Demographics
Aicardi-Goutieres syndrome is very rare, with only about 50 cases having been described.
Treatment
Treatment
Current treatment is supportive, involving management of seizures and spasticity associated with the syndrome. [4]
References
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]