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For Patients and Family

What is CCM3?

CCM3 is a genetic mutation that can cause people to develop cerebral cavernous angiomas. Cerebral cavernous angiomas are blood vessel defects in the brain and spinal cord that look like mulberries. Cavernous angiomas are leaky, can grow quite large, and can cause seizures, headaches, and stroke-like symptoms. 

Brain with Cavernous Angiomas

This particular mutation is believed to be ultra-rare. There are only 30-50 people in the United States who are diagnosed and an equivalent number in Europe.

People who have the CCM3 genetic mutation are different from other people with cavernous angiomas in several ways:
  • While about half of people with the CCM3 mutation have mild symptoms, the other half are more severely affected and more likely to have a cavernous angioma hemorrhage before age 15.
  • They sometimes have another type of non-malignant brain tumor called a meningioma.
  • They may be more likely to have a vascular skin abnormality called a venous malformation.
The CCM3 gene creates a protein known as PDCD10. PDCD10 is part of a system that tells cells to die when they have replicated enough or have acquired errors in their DNA. If PDCD10 is not created, this message does not get through and, apparently, one kind of blood vessel cell called an endothelial cell continues to replicate where it shouldn't.

PDCD10 may be involved in other systems as well. CCM3 Action, working with the University of Chicago and other researchers, is trying to determine whether other physical problems are part of this illness.

CCM3 is hereditary and does not skip generations. Each child of a person who has the CCM3 mutation has a 50% chance of inheriting the illness.







This page last updated 10/9/2011
   


Resources

Join our CCM3 Community Facebook Group. It's a closed group. Please use our Talk to Us form to request to be added to the group.

Visit Angioma Alliance to learn more about cavernous angiomas.

Visit the National Library of Medicine Genetics Home Reference to learn more about the CCM3 (PDCD10) mutation.

Visit the Genetic Science Learning Center for a wonderful tutorial about DNA and genes.



References

Denier C et al.  Genotype-phenotype correlations in cerebral cavernous malformations patients, Ann. Neurol. 2006; 60: 550-6.

Labauge P et al. Multiple dural lesions mimicking meningiomas in patients with CCM3/PDCD10 mutation, Neurology 2009 Jun 9; 72(23): 2044-6.

Sirvente J et al. Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations. JEADV 2009; 23: 1066-1072.