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.

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

Last Updated: 22 Apr 2015

View Details

 

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 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

View Details

 

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 Syndrome" returned 83 free, full-text research articles on human participants. First 3 results:

Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion.
 

Author(s): Peng Li, Juan Du, John L Goodier, Jingwei Hou, Jian Kang, Haig H Kazazian, Ke Zhao, Xiao-Fang Yu

Journal: Nucleic Acids Res.. 2017 May;45(8):4619-4631.

 

Maintaining genome integrity is important for cells and damaged DNA triggers autoimmunity. Previous studies have reported that Three-prime repair exonuclease 1(TREX1), an endogenous DNA exonuclease, prevents immune activation by depleting damaged DNA, thus preventing the development ...

Last Updated: 23 Mar 2017

Go To URL
Aicardi syndrome: when to suspect the unexpected
 

Author(s): Fábio A. Nascimento, Danah Aljaafari, Massie Rahim, Timo Krings, Danielle Andrade

Journal: Epileptic Disord. 2016 Jun;18(2):216.

 

Last Updated: 16 Jun 2016

Go To URL
A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings.
 

Author(s): K Shirley, M O'Keefe, S McKee, E McLoone

Journal: Eye (Lond). 2016 Jul;30(7):1011-6.

 

PurposeAicardi syndrome is a rare disorder, affecting ~1 in 100 000 live births. Chorioretinal lacunae feature alongside agenesis of the corpus callosum and spasms in flexion to make up a diagnostic triad. Recently ophthalmic findings such as microphthalmia and optic disc anomalies ...

Last Updated: 7 Jul 2016

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 Syndrome" returned 8 free, full-text review articles on human participants. First 3 results:

Effects of Aicardi-Goutières syndrome mutations predicted from ADAR-RNA structures.
 

Author(s): Andrew J Fisher, Peter A Beal

Journal: RNA Biol. 2017 Feb;14(2):164-170.

 

Adenosine (A) to inosine (I) RNA editing is important for life in metazoan organisms. Dysregulation or mutations that compromise the efficacy of A to I editing results in neurological disorders and a shorten life span. These reactions are catalyzed by adenosine deaminases acting on ...

Last Updated: 12 Dec 2016

Go To URL
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
 
 
Top

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: 4 May 2017

Go to URL
Brain Development Research Program
 

Status: Recruiting

Condition Summary: Brain Disorders; Aicardi Syndrome

 

Last Updated: 9 Jan 2017

Go to URL
Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome
 

Status: Not yet recruiting

Condition Summary: Aicardi Goutières Syndrome

 

Last Updated: 3 Oct 2017

Go to URL