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.

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

The association between cerebral developmental venous anomaly and concomitant cavernous malformation: an observational study using magnetic resonance imaging.
 

Author(s): Guolu Meng, Chuanfeng Bai, Tengfei Yu, Zhen Wu, Xing Liu, Junting Zhang, Jizong zhao

Journal:

 

Some studies reported that cerebral developmental venous anomaly (DVA) is often concurrent with cavernous malformation (CM). But there is lack of statistical evidence and study of bulk cases. The factors associated with concurrency are still unknown. The purpose of this study was ...

Last Updated: 25 Mar 2014

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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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Structural basis for the unique heterodimeric assembly between cerebral cavernous malformation 3 and germinal center kinase III.
 

Author(s): Xueyong Xu, Xiaoyan Wang, Ying Zhang, Da-Cheng Wang, Jingjin Ding

Journal: Structure. 2013 Jun;21(6):1059-66.

 

Defects in cerebral cavernous malformation protein CCM3 result in cerebral cavernous malformation (CCM), a common vascular lesion of the human CNS. CCM3 functions as an adaptor protein that interacts with various signal proteins. Among these partner proteins, germinal center kinase ...

Last Updated: 10 Jun 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 "Cerebral Cavernous Malformation" returned 2 free, full-text review articles on human participants. First 3 results:

Cerebral cavernous malformation is a vascular disease associated with activated RhoA signaling.
 

Author(s): Bryan T Richardson, Christopher F Dibble, Asya L Borikova, Gary L Johnson

Journal: Biol. Chem.. 2013 Jan;394(1):35-42.

 

Cerebral cavernous malformation (CCM) involves the homozygous inactivating mutations of one of three genes, ccm1, -2, or -3 resulting in hyperpermeable blood vessels in the brain. The CCM1, -2, and -3 proteins form a complex to organize the signaling networks controlling endothelial ...

Last Updated: 28 Feb 2013

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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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