User:LDNeurobio/Aicardi-Goutieres Syndrome

Aicardi-Goutieres Syndrome These are our topics that we would like to expand upon: History of Disease, Signs and Symptoms, Diagnostic Criteria, Misdiagnosis, Neurological Characterization, Genetics, Related Disorders, and Treatment.

These are some of our sources so far:Full Text Available Articles:

http://www.ncbi.nlm.nih.gov/pubmed/8592332 http://www.ncbi.nlm.nih.gov/pubmed/15737701 http://www.ncbi.nlm.nih.gov/pubmed/18343173 http://www.ncbi.nlm.nih.gov/pubmed/18422679 http://www.ncbi.nlm.nih.gov/pubmed/19129251 http://www.ncbi.nlm.nih.gov/pubmed/19808788 http://www.ncbi.nlm.nih.gov/pubmed/22149989 http://0-bmb.oxfordjournals.org.libus.csd.mu.edu/content/89/1/183.full http://www.sciencedirect.com/science/article/pii/S1090379807002024 http://bmb.oxfordjournals.org/content/89/1/183.long

Other Articles:

http://www.ncbi.nlm.nih.gov/pubmed/12911136

Genetics: Aicardi-Goutieres syndrome is believed to be related to mutations occurring in the TREX1 on chromosome 3 (known as ASG1), RNASEH2A on chromosome 19 (known as AGS4), RNASEH2B on chromosome 13 (known as AGS2), RNASEH2C on chromosome 11 (known as AGS3), and SAMHD1 genes on chromosome 20, of which mutations in RNASEH2B are the most prevalent. Other currently unknown genes may be involved as well. In most cases these mutations are the result of an autosomal recessive inheritance pattern. Rarely, this condition may be the result of de novo mutations, or an autosomal dominant inheritance pattern. The latter is highly unlikely because of the general early onset of this disorder. Sometimes Aicardi-Goutieres syndrome has a delayed onset, in which case the individual may pass on the mutation.

Sources: http://www.ghr.nlm.nih.gove/condition/aicardi-goutieres-syndrome#genes http://www.ncbi.nlm.nih.gov/books/NBK1475 http://www.bmb.oxfordjournals.org/content/89/1/183.full Possible future source: www.gfmer.ch/genetics_disease_v2/gendis_detail_list.php?cat3=1782 (search Aicardi-Goutieres Syndrome)