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.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 32 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

Go To URL
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
 

Author(s): Gillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, Diana S Chase, Alec Aeby, Mohamed S Abdel-Hamid, Sam Ackroyd, Rebecca Allcock, Kathryn M Bailey, Umberto Balottin, Christine Barnerias, Genevieve Bernard, Christine Bodemer, Maria P Botella, Cristina Cereda, Kate E Chandler, Lyvia Dabydeen, Russell C Dale, Corinne De Laet, Christian G E L De Goede, Mireia Del Toro, Laila Effat, Noemi Nunez Enamorado, Elisa Fazzi, Blanca Gener, Madli Haldre, Jean-Pierre S-M Lin, John H Livingston, Charles Marques Lourenco, Wilson Marques, Patrick Oades, Pärt Peterson, Magnhild Rasmussen, Agathe Roubertie, Johanna Loewenstein Schmidt, Stavit A Shalev, Rogelio Simon, Ronen Spiegel, Kathryn J Swoboda, Samia A Temtamy, Grace Vassallo, Catheline N Vilain, Julie Vogt, Vanessa Wermenbol, William P Whitehouse, Doriette Soler, Ivana Olivieri, Simona Orcesi, Mona S Aglan, Maha S Zaki, Ghada M H Abdel-Salam, Adeline Vanderver, Kai Kisand, Flore Rozenberg, Pierre Lebon, Yanick J Crow

Journal: Lancet Neurol. 2013 Dec;12(12):1159-69.

 

Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers ...

Last Updated: 15 Nov 2013

Go To URL
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

Go To URL

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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Reverse Transcriptase Inhibitors in AGS
 

Status: Not yet recruiting

Condition Summary: Aicardi-Goutières Syndrome (AGS)

 

Last Updated: 9 Apr 2015

Go to URL