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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How do you compare to others with this condition?

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

Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability.
 

Author(s): Sara Pizzi, Sarah Sertic, Simona Orcesi, Cristina Cereda, Marika Bianchi, Andrew P Jackson, Federico Lazzaro, Paolo Plevani, Marco Muzi-Falconi

Journal: Hum. Mol. Genet.. 2015 Feb;24(3):649-58.

 

Aicardi-Goutières syndrome (AGS) is an inflammatory encephalopathy caused by defective nucleic acids metabolism. Over 50% of AGS mutations affect RNase H2 the only enzyme able to remove single ribonucleotide-monophosphates (rNMPs) embedded in DNA. Ribonucleotide triphosphates (rNTPs) ...

Last Updated: 13 Jan 2015

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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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[Aicardi syndrome: retrospective study of a series of seven case reports].
 

Author(s): Joaquín Alejandro Fernández-Ramos, Eduardo López-Laso, Rogelio Simón-De Las Heras, Rafael Camino-León, Pilar Guerra-García, Ana Camacho-Salas, María Aguilar-Quintero, Noemí Núñez-Enamorado

Journal: Rev Neurol. 2013 Dec;57(11):481-8.

 

The Aicardi syndrome is a disorder presumably X-linked dominant, classically defined by the triad of agenesis of the corpus callosum, chorioretinal lacunae and infantile spasms, with lethality in males.

Last Updated: 22 Nov 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 Syndrome" returned 6 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

There are currently no related results available in GeneReviews.

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

 
 
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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: 31 Oct 2014

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Brain Development Research Program
 

Status: Recruiting

Condition Summary: Brain Disorders; Aicardi Syndrome

 

Last Updated: 14 Jan 2015

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Reverse Transcriptase Inhibitors in AGS
 

Status: Not yet recruiting

Condition Summary: Aicardi-Goutières Syndrome (AGS)

 

Last Updated: 9 Apr 2015

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