Aicardi Syndrome

Common Name(s)

Aicardi Syndrome

Aicardi syndrome is a rare genetic disorder causing absence of the corpus callosum, an important part of the brain that allows the right side of the brain to communicate with the left side. This disorder only affects females, and therefore is thought to be caused by mutation to the X chromosome. Female children with Aicardi syndrome are typically diagnosed by the time they are six months of age. Babies will usually begin to develop normally, but infant seizures will begin to be seen around three months of age. Most individuals will also have lesions to a specific light sensitive area of the eye, which may affect their vision. Almost all children with this disorder will experience developmental delays, while some may have moderate to severe intellectual disability. Management of the disorder typically focuses on controlling seizures and therapy for developmental delays.

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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CNS Foundation

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

Last Updated: 12 Oct 2013

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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
CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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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 56 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

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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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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

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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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