Genetics of cerebral cavernous malformations: current status and future prospects.

Abstract excerpt

Cerebral cavernous malformations (CCM) are vascular lesions which affect up to 0.5% of the general population, predisposing to headaches, seizures, cerebral hemorrhages and focal neurological deficits. CCM occurs in both sporadic and familial forms; familial cases follow an autosomal-dominant mode of inheritance and are caused by mutations in CCM1 (KRIT1), CCM2 (MGC4607), or CCM3 (PDCD10). Somatic mutations...

Topics

• Central Nervous System Neoplasms
• Genetic Predisposition to Disease
• Genotype
• Hemangioma, Cavernous, Central Nervous System
• Humans
• Mutation