Aicardi-Goutieres syndrome: Difference between revisions
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'''''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.<ref name="RB">{{cite book | |||
| last = Barker | | last = Barker | ||
| first = Roger A. | | first = Roger A. | ||
| Line 19: | Line 25: | ||
| coauthors = Neil Scolding, Dominic Rowe, Andrew J. Larner | | coauthors = Neil Scolding, Dominic Rowe, Andrew J. Larner | ||
| title = The A-Z of Neurological Practice: A Guide to Clinical Neurology | | title = The A-Z of Neurological Practice: A Guide to Clinical Neurology | ||
| publisher = | | publisher = Cambridge University Press | ||
| date = 2005 | | date = 2005 | ||
| location = | | location = | ||
| Line 25: | Line 31: | ||
| url = http://books.google.co.uk/books?id=LRRiuFfr9UkC | | url = http://books.google.co.uk/books?id=LRRiuFfr9UkC | ||
| isbn =0521629608 }} | | isbn =0521629608 }} | ||
</ref> It | </ref> | ||
It presents within the first few weeks of life.<ref name="RB" /> | |||
== | ==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. <ref>{{cite journal | url=http://www.ncbi.nlm.nih.gov/pubmed/6712192?dopt=Abstract | 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. <ref>{{cite journal | url=http://www.ncbi.nlm.nih.gov/pubmed/6712192?dopt=Abstract | ||
|last=Aicardi | |last=Aicardi | ||
| Line 37: | Line 43: | ||
|volume=15 | |volume=15 | ||
|number=1 | |number=1 | ||
|pages=49–54 }}</ref> 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 '''. | |pages=49–54 }}</ref> 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== | |||
== | {| class="wikitable" | ||
Later work mapped the Aicardi-Goutieres syndrome to [[chromosome 3]]p21 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. | |- | ||
! Type | |||
! [[OMIM]] | |||
! Gene | |||
! Locus | |||
|- | |||
| AGS1 | |||
| {{OMIM2|225750}} | |||
| ''[[TREX1]]'' | |||
| 3p21.3-p21.2 | |||
|- | |||
| AGS2 | |||
| {{OMIM2|610181}} | |||
| ''[[RNASEH2B]]'' | |||
| 13q | |||
|- | |||
| AGS3 | |||
| {{OMIM2|610329}} | |||
| ''[[RNASEH2C]]'' | |||
| 11q13.2 | |||
|- | |||
| AGS4 | |||
| {{OMIM2|610333}} | |||
| ''[[RNASEH2A]]'' | |||
| 19p13.13 | |||
|- | |||
| AGS5 | |||
| {{OMIM2|612952}} | |||
| ''[[SAMHD1]]'' | |||
| 20 | |||
|} | |||
==Pathophysiology== | |||
===Genetics=== | |||
It is [[autosomal recessive]] and presents within the first few weeks of life.<ref name="RB" /> Later work mapped the Aicardi-Goutieres syndrome to [[chromosome 3]]p21 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]].<ref name="pmid16845398">{{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}}</ref> | The condition has been associated with [[TREX1]].<ref name="pmid16845398">{{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}}</ref> | ||
==Epidemiology and Demographics== | |||
==Epidemiology== | |||
Aicardi-Goutieres syndrome is very rare, with only about 50 cases having been described. | 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. <ref>{{cite web | ||
Current treatment is supportive, involving management of seizures and spasticity | |||
|url=http://www.aicardi-goutieres.com/berichte/learning.htm | |url=http://www.aicardi-goutieres.com/berichte/learning.htm | ||
|title=Learning about Aicardi-Goutières Syndrome | |title=Learning about Aicardi-Goutières Syndrome | ||
| Line 58: | Line 95: | ||
==References== | ==References== | ||
{{Reflist}} | {{Reflist|2}} | ||
==External links== | ==External links== | ||
*{{RareDiseases|575|Aicardi-Goutieres Syndrome}} | *{{RareDiseases|575|Aicardi-Goutieres Syndrome}} | ||
*{{RareDiseases|10151|Aicardi-Goutieres Syndrome 5}} | *{{RareDiseases|10151|Aicardi-Goutieres Syndrome 5}} | ||
[[Category:Autosomal recessive disorders]] | [[Category:Autosomal recessive disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Disease]] | |||
[[fr:Syndrome d'Aicardi-Goutières]] | [[fr:Syndrome d'Aicardi-Goutières]] | ||
[[pl:Zespół Aicardiego-Goutièresa]] | [[pl:Zespół Aicardiego-Goutièresa]] | ||
{{WikiDoc Help Menu}} | |||
{{WikiDoc Sources}} | |||
Latest revision as of 20:48, 8 August 2012
| 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