Cerebral Cavernous Malformation

Common Name(s)

Cerebral Cavernous Malformation

Cerebral cavernous malformations (CCMs) are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure which lead to altered blood flow. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the central nervous system (the brain and spinal cord). Cavernous malformations in the brain and/or spinal cord are called cerebral cavernous malformations.  Approximately 25 percent of individuals with cerebral cavernous malformations never experience any related medical problems. Other people with cerebral cavernous malformations may experience serious symptoms such as headaches, seizures, paralysis, hearing or vision deficiencies, and bleeding in the brain (cerebral hemorrhage). These malformations can change in size and number over time, but they do not become cancerous.  This condition can be sporadic or it can be inherited in an autosomal dominant pattern. Mutations in the KRIT1(CCM1), CCM2, and PDCD10 (CCM3) genes cause cerebral cavernous malformation.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cerebral Cavernous Malformation" for support, advocacy or research.

Cavernoma Alliance UK

Cavernoma Alliance UK was established in 2005 by and for people affected by a cavernoma.

http://www.cavernoma.org.uk

Last Updated: 15 Apr 2014

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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 "Cerebral Cavernous Malformation" for support, advocacy or research.

Cavernoma Alliance UK

Cavernoma Alliance UK was established in 2005 by and for people affected by a cavernoma.

http://www.cavernoma.org.uk

Last Updated: 15 Apr 2014

View Details

 

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 "Cerebral Cavernous Malformation" returned 27 free, full-text research articles on human participants. First 3 results:

Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation.
 

Author(s): Xue Wang, Xue-Wu Liu, Nora Lee, Qi-Ji Liu, Wen-Na Li, Tao Han, Kun-Kun Wei, Shan Qiao, Zhao-Fu Chi

Journal: Chin. Med. J.. 2013 ;126(18):3427-32.

 

Familial cerebral cavernous malformations (CCMs), characterized by hemorrhagic stroke, recurrent headache and epilepsy, are congenital vascular anomalies of the central nervous system. Familial CCMs is an autosomal dominant inherited disorder and three CCM genes have been identified. ...

Last Updated: 16 Sep 2013

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Is cerebral cavernous malformation a pre-glioma lesion?
 

Author(s): Ji-yang Zhang, Zong-yi Ming, An-hua Wu

Journal: Chin. Med. J.. 2012 Dec;125(24):4511-3.

 

Glioma is the most malignant tumor in the brain, the origin of glioma is still unknown. Recently some papers indicated that glioma may be developed from cerebral cavernous malformation (CCM). We describe a man with a right temporal lobe CCM, after gamma-knife radiotherapy, the patient ...

Last Updated: 20 Dec 2012

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Adaptor protein cerebral cavernous malformation 3 (CCM3) mediates phosphorylation of the cytoskeletal proteins ezrin/radixin/moesin by mammalian Ste20-4 to protect cells from oxidative stress.
 

Author(s): Miguel Fidalgo, Ana Guerrero, MarĂ­a Fraile, Cristina Iglesias, Celia M Pombo, Juan Zalvide

Journal: J. Biol. Chem.. 2012 Mar;287(14):11556-65.

 

While studying the functions of CCM3/PDCD10, a gene encoding an adaptor protein whose mutation results in vascular malformations, we have found that it is involved in a novel response to oxidative stress that results in phosphorylation and activation of the ezrin/radixin/moesin (ERM) ...

Last Updated: 3 Jul 2012

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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 "Cerebral Cavernous Malformation" returned 1 free, full-text review articles on human participants. First 3 results:

Cerebral cavernous malformation: new molecular and clinical insights.
 

Author(s): N Revencu, M Vikkula

Journal: J. Med. Genet.. 2006 Sep;43(9):716-21.

 

Cerebral cavernous malformation (CCM) is a vascular malformation causing neurological problems, such as headaches, seizures, focal neurological deficits, and cerebral haemorrhages. CCMs can occur sporadically or as an autosomal dominant condition with variable expression and incomplete ...

Last Updated: 4 Sep 2006

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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

Modifiers of Disease Severity in Cerebral Cavernous Malformations
 

Status: Recruiting

Condition Summary: Cavernous Angioma, Familial; Cerebral Cavernous Malformations; Cerebral Cavernous Hemangioma

 

Last Updated: 7 Jan 2013

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Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins
 

Status: Recruiting

Condition Summary: Cavernous Angioma, Familial; Cerebral Cavernous Malformations; Cerebral Cavernous Hemangioma

 

Last Updated: 7 Jan 2013

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