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Aicardi-Goutieres syndrome type 4
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Overview
Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin.[1] It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability.[2] Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness.[3] Symptoms usually progress over several months before the disease course stabilizes. There are five different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes.[1] Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.[4]
References
- Aicardi-Goutieres syndrome. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome. Accessed July 13, 2012.
- Aicardi J, Crow YJ, Stephenson JBP. Aicardi-Goutières Syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1475/. Accessed July 13, 2012.
- Creveaux I. Aicardi-Goutieres syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=51. Accessed July 13, 2012.
- Aicardi-Goutieres Syndrome. United Leukodystrophy Foundation. http://ulf.org/aicardi-goutieres-syndrome. Accessed July 13, 2012.
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General Information
- Genetics Home Reference (GHR) contains information on Aicardi-Goutieres syndrome type 4. Click on the link to go to GHR and review the information.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Aicardi-Goutieres syndrome type 4. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Aicardi-Goutieres syndrome type 4. Click on the link to go to OMIM and review these resources.
- The United Leukodystrophy Foundation has developed an information page on Aicardi-Goutieres syndrome. Click on the link above to view this information page.