Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformation - BVMC 6201. Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformation - BVMC 6201

Individuals with Cerebral Cavernous Malformations (CCMs) have clusters of abnormally enlarged blood vessels in the brain and spinal cord. These abnormal clusters can cause problems such as neurological morbidity which can include bleeding in the brain, neurological events, death, seizures or disabilities. Familial or inherited forms of CCM are caused by mutations in CCM1/KRIT1, CCM2/MGC4067, or CCM3/PDCD10, the most common of which is CCM1. The familial form of CCM is frequently seen in Hispanic families of the Southwest due to a founder mutation in CCM1 coined the 'Common Hispanic Mutation' (CCM1-CHM). The purpose of this study is to understand the natural history, morbidity, and mortality of people living with familial CCM. In this study, we will collect clinical, genetic, imaging, and environmental information for people with familial CCM1 to look for risk factors affecting CCM disease severity and progression. The overall research aims are: To establish... (for more see dbGaP study page.)