Aicardi-Goutieres Syndrome

Common Name(s)

Aicardi-Goutieres Syndrome

Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes.  Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aicardi-Goutieres Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Aicardi-Goutieres Syndrome" returned 30 free, full-text research articles on human participants. First 3 results:

Aicardi-Goutières syndrome is caused by IFIH1 mutations.
 

Author(s): Hirotsugu Oda, Kenji Nakagawa, Junya Abe, Tomonari Awaya, Masahide Funabiki, Atsushi Hijikata, Ryuta Nishikomori, Makoto Funatsuka, Yusei Ohshima, Yuji Sugawara, Takahiro Yasumi, Hiroki Kato, Tsuyoshi Shirai, Osamu Ohara, Takashi Fujita, Toshio Heike

Journal: Am. J. Hum. Genet.. 2014 Jul;95(1):121-5.

 

Aicardi-Goutières syndrome (AGS) is a rare, genetically determined early-onset progressive encephalopathy. To date, mutations in six genes have been identified as etiologic for AGS. Our Japanese nationwide AGS survey identified six AGS-affected individuals without a molecular diagnosis; ...

Last Updated: 5 Jul 2014

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Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutières syndrome-related SAMHD1.
 

Author(s): Ke Zhao, Juan Du, Xue Han, John L Goodier, Peng Li, Xiaohong Zhou, Wei Wei, Sean L Evans, Linzhang Li, Wenyan Zhang, Ling E Cheung, Guanjun Wang, Haig H Kazazian, Xiao-Fang Yu

Journal: Cell Rep. 2013 Sep;4(6):1108-15.

 

Long interspersed elements 1 (LINE-1) occupy at least 17% of the human genome and are its only active autonomous retrotransposons. However, the host factors that regulate LINE-1 retrotransposition are not fully understood. Here, we demonstrate that the Aicardi-Goutières syndrome ...

Last Updated: 30 Sep 2013

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Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
 

Author(s): Gillian I Rice, Martin A M Reijns, Stephanie R Coffin, Gabriella M A Forte, Beverley H Anderson, Marcin Szynkiewicz, Hannah Gornall, David Gent, Andrea Leitch, Maria P Botella, Elisa Fazzi, Blanca Gener, Lieven Lagae, Ivana Olivieri, Simona Orcesi, Kathryn J Swoboda, Fred W Perrino, Andrew P Jackson, Yanick J Crow

Journal: Hum. Mutat.. 2013 Aug;34(8):1066-70.

 

Aicardi-Goutières syndrome is an inflammatory disorder resulting from mutations in TREX1, RNASEH2A/2B/2C, SAMHD1, or ADAR1. Here, we provide molecular, biochemical, and cellular evidence for the pathogenicity of two synonymous variants in RNASEH2A. Firstly, the c.69G>A (p.Val23Val) ...

Last Updated: 16 Jul 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Aicardi-Goutieres Syndrome" returned 5 free, full-text review articles on human participants. First 3 results:

Aicardi-Goutières syndrome: a model disease for systemic autoimmunity.
 

Author(s): M A Lee-Kirsch, C Wolf, C Günther

Journal: Clin. Exp. Immunol.. 2014 Jan;175(1):17-24.

 

Systemic autoimmunity is a complex disease process that results from a loss of immunological tolerance characterized by the inability of the immune system to discriminate self from non-self. In patients with the prototypic autoimmune disease systemic lupus erythematosus (SLE), formation ...

Last Updated: 4 Dec 2013

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Mouse models for Aicardi-Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity.
 

Author(s): R Behrendt, A Roers

Journal: Clin. Exp. Immunol.. 2014 Jan;175(1):9-16.

 

Aicardi-Goutières syndrome (AGS) is a hereditary autoimmune disease which overlaps clinically and pathogenetically with systemic lupus erythematosus (SLE), and can be regarded as a monogenic variant of SLE. Both conditions are characterized by chronic activation of anti-viral type ...

Last Updated: 4 Dec 2013

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Therapies in Aicardi-Goutières syndrome.
 

Author(s): Y J Crow, A Vanderver, S Orcesi, T W Kuijpers, G I Rice

Journal: Clin. Exp. Immunol.. 2014 Jan;175(1):1-8.

 

Aicardi-Goutières syndrome (AGS) is a genetically determined disorder, affecting most particularly the brain and the skin, characterized by the inappropriate induction of a type I interferon-mediated immune response. In most, but not all, cases the condition is severe, with a high ...

Last Updated: 4 Dec 2013

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.