Aicardi-Goutieres syndrome
- Aicardi-Goutieres syndrome
Infobox_Disease
Name = Aicardi-Goutieres syndrome
Caption =
DiseasesDB = 31680
ICD10 =
ICD9 =
ICDO =
OMIM = 225750
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =
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. [OMIM|225750|Aicardi-Goutieres syndrome] It is a type of leukodystrophy and is usually fatal within the first few years.[cite book]
last = Barker
first = Roger A.
authorlink =
coauthors = Neil Scolding, Dominic Rowe, Andrew J. Larner
title = The A-Z of Neurological Practice: A Guide to Clinical Neurology
publisher = Cambridge University Press
date = 2005
location =
pages = 21
url = http://books.google.co.uk/books?id=LRRiuFfr9UkC
isbn =0521629608 ] It is autosomal recessive and presents within the first few weeks of life.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. [cite journal | url=http://www.ncbi.nlm.nih.gov/pubmed/6712192?dopt=Abstract
last=Aicardi
first=Jean
coauthors= Françoise Goutières
title=A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis
journal=Ann Neuro
year=1984
volume=15
number=1
pages=49–54 ] 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.[cite journal |author=Crow YJ, Hayward BE, Parmar R, "et al" |title=Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus |journal=Nat. Genet. |volume=38 |issue=8 |pages=917–20 |year=2006 |month=August |pmid=16845398 |doi=10.1038/ng1845 |url=http://dx.doi.org/10.1038/ng1845] ]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. [cite web
url=http://www.aicardi-goutieres.com/berichte/learning.htm
title=Learning about Aicardi-Goutières Syndrome
publisher=International Aicardi-Goutières Syndrome Association
accessdate=2008-05-21 ]
ee also
* TORCH complex
References
External links
* [http://www.ulf.org/types/Aicardi.html Aicardi-Goutieres Syndrome] at United Leukodystrophy Foundation website
*RareDiseases|575|Aicardi-Goutieres Syndrome
*RareDiseases|10151|Aicardi-Goutieres Syndrome 5
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