Aicardi Syndrome

Common Name(s)

Aicardi Syndrome

Aicardi syndrome is an extremely rare genetic condition found almost exclusively in females. The three main characteristics seen in individuals with Aicardi syndrome include absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis of the corpus callosum), small holes in the light-sensitive tissue at the back of the eye known as the retina (chorioretinal lacunae), and seizures beginning in infancy (infantile spasms) that may progress to recurrent seizures (epilepsy). Most people with Aicardi syndrome also have developmental delays and intellectual disabilities.

In addition to the main features associated with Aicardi syndrome, some individuals may also have distinctive facial features that include a shorter philtrum (area between the upper lip and the nose), a flat nose, large ears, and sparse eyebrows. Other features of Aicardi syndrome may include a small head (microcephaly), decreased muscle tone (axial hypotonia), missing eyes (anophthalmia), gastrointestinal difficulties (diarrhea, constipation, reflux and feeding difficulties), small hands, and curvature of the spine (scoliosis). The severity of Aicardi syndrome varies, so not every person with Aicardi syndrome will have all of these features.

The exact genetic cause of Aicardi syndrome is not known. Because it almost always occurs in females, geneticists believe Aicardi syndrome is caused by a mutation within an undiscovered gene located on the X chromosome. Nearly all known cases of Aicardi syndrome occur randomly in individuals (sporadic). Although there is not a cure for Aicardi syndrome, there are various resources to help manage the symptoms associated with the condition. Talking with your doctor and visiting support group websites serve as good resources for additional information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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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 Syndrome" returned 75 free, full-text research articles on human participants. First 3 results:

Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
 

Author(s): Yoong Wearn Lim, Lionel A Sanz, Xiaoqin Xu, Stella R Hartono, Frédéric Chédin

Journal:

 

Aicardi-Goutières syndrome (AGS) is a severe childhood inflammatory disorder that shows clinical and genetic overlap with systemic lupus erythematosus (SLE). AGS is thought to arise from the accumulation of incompletely metabolized endogenous nucleic acid species owing to mutations ...

Last Updated: 7 Aug 2015

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Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.
 

Author(s): Eloy Cuadrado, Iliana Michailidou, Emma J van Bodegraven, Machiel H Jansen, Jacqueline A Sluijs, Dirk Geerts, Pierre-Olivier Couraud, Lidia De Filippis, Angelo L Vescovi, Taco W Kuijpers, Elly M Hol

Journal: J. Immunol.. 2015 Apr;194(8):3623-33.

 

Aicardi-Goutières syndrome (AGS) is a monogenic inflammatory encephalopathy caused by mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or MDA5. Mutations in those genes affect normal RNA/DNA intracellular metabolism and detection, triggering an autoimmune response ...

Last Updated: 7 Apr 2015

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Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.
 

Author(s): Paul R Kasher, Emma M Jenkinson, Valérie Briolat, David Gent, Catherine Morrissey, Leo A H Zeef, Gillian I Rice, Jean-Pierre Levraud, Yanick J Crow

Journal: J. Immunol.. 2015 Mar;194(6):2819-25.

 

In humans, loss of function mutations in the SAMHD1 (AGS5) gene cause a severe form of Aicardi-Goutières syndrome (AGS), an inherited inflammatory-mediated encephalopathy characterized by increased type I IFN activity and upregulation of IFN-stimulated genes (ISGs). In particular, ...

Last Updated: 9 Mar 2015

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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 Syndrome" returned 7 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

Study of Selected X-Linked Disorders: Aicardi Syndrome
 

Status: Recruiting

Condition Summary: Aicardi Syndrome; Brain Disorders

 

Last Updated: 16 May 2016

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Brain Development Research Program
 

Status: Recruiting

Condition Summary: Brain Disorders; Aicardi Syndrome

 

Last Updated: 2 Dec 2015

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Reverse Transcriptase Inhibitors in AGS
 

Status: Recruiting

Condition Summary: Aicardi-Goutières Syndrome (AGS)

 

Last Updated: 17 May 2016

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