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

[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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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

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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 3 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

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[Clinical outcome of distinct Aicardi syndrome phenotypes].
 

Author(s): M Galdós, R Martínez, J M Prats

Journal: Arch Soc Esp Oftalmol. 2008 Jan;83(1):29-36.

 

Three cases of Aicardi Syndrome were diagnosed in our hospital. This syndrome is a rare, female-restricted genetic disease, characterized by agenesis of the corpus callosum, other central nervous system malformations, and chorioretinal lacunae. We have compared these cases with other ...

Last Updated: 11 Jan 2008

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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

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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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: 23 Jun 2011

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Brain Development Research Program
 

Status: Recruiting

Condition Summary: Brain Disorders; Aicardi Syndrome

 

Last Updated: 16 May 2013

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