Cerebral cavernous malformations are common vascular lesions of the cen-tral nervous system that predispose to seizures, focal neurologic deficits
and potentially fatal hemorrhagic stroke. Human genetic studies have iden-tified three genes associated with the disease and biochemical studies of
these proteins have identified interaction partners and possible signaling
Cerebral cavernous malformations (CCM) are vascular lesions which can
occur as a sporadic (80% of the cases) or familial autosomal dominant
form (20%). Three CCM genes have been identified: CCM1⁄KRIT1,
CCM2⁄MGC4607and CCM3⁄PDCD10. Almost 80% of CCM patients
affected with a genetic form of the disease harbor a heterozygous germline
mutation in one of these three genes.
Cerebral cavernous malformations (CCM) are common vascular malforma-tions with an unpredictable risk of hemorrhage, the consequences of which
range from headache to stroke or death. Three genes, CCM1, CCM2and
CCM3, have been linked to the disease. The encoded CCM proteins inter-act with each other within a large protein complex.