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 29 free, full-text research articles on human participants. First 3 results:

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
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

Go To URL
Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome.
 

Author(s): Asako Takanohashi, Morgan Prust, Jichuan Wang, Heather Gordish-Dressman, Miriam Bloom, Gillian I Rice, Johanna L Schmidt, Yanick J Crow, Pierre Lebon, Taco W Kuijpers, Kanneboyina Nagaraju, Adeline Vanderver

Journal: Neurology. 2013 Mar;80(11):997-1002.

 

This study explores a large panel of cytokines in plasma and CSF of patients with Aicardi-Goutières syndrome (AGS) at different ages, in order to establish signatures of cytokines most predictive of AGS.

Last Updated: 12 Mar 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 2 free, full-text review articles on human participants. First 3 results:

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.
 

Author(s): Yanick J Crow, Jan Rehwinkel

Journal: Hum. Mol. Genet.. 2009 Oct;18(R2):R130-6.

 

Aicardi-Goutières syndrome (AGS) is a genetically determined encephalopathy demonstrating phenotypic overlap both with the sequelae of congenital infection and with systemic lupus erythematosus (SLE). Recent molecular advances have revealed that AGS can be caused by mutations in ...

Last Updated: 7 Oct 2009

Go To URL
The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).
 

Author(s): J L Tolmie, P Shillito, R Hughes-Benzie, J B Stephenson

Journal: J. Med. Genet.. 1995 Nov;32(11):881-4.

 

Aicardi-Goutières syndrome (Mendelian inheritance in man Catalog No *225750) is an autosomal recessive encephalopathy which causes developmental arrest, intracerebral calcification, and white matter disease in the presence of chronic cerebrospinal fluid lymphocytosis, and a raised ...

Last Updated: 3 Apr 1996

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

There are currently no open clinical trials for this condition.