This study is one of three projects participating in the Brain Vascular Malformation Consortium (BVMC) funded by the Office of Rare Diseases Research, which is part of the National Center for Advancing Translational Sciences (NCATS), and the National Institute of Neurological Disorders and Stroke (NINDS). The CCM project is a cross-sectional and longitudinal study of familial CCM patients. The study is currently in the third 5-year cycle. During the first 5 year cycle (BVMC1), the CCM project was focused on recruiting CCM1 cases with the common Hispanic mutation (CHM). In the second 5-year cycle (BVMC2), we expanded recruitment to include not only CCM1-CHM cases, but also other CCM familial patients and mutation carriers. In the third 5-year cycle (BVMC3), we will continue to recruit familial CCM cases and expand to additional recruitment sites. We collect clinical, genetic, imaging, treatment, and outcome data in participants, and follow enrolled participants over time to understand the natural history of this disease. For new study participants, you will be asked to: Give permission for study staff to access your medical records to collect clinical information and to obtain copies of MRI scans and reports. Fill out a questionnaire about your quality of life, family history, and medical/surgical history. Give a blood and/or saliva sample, and stool sample. Give permission to store and use your CCM resected tissue for research (if undergoing surgery). Participate in annual follow-ups to update medical, surgical, and neurological information. Eligible cases include those with a known genetic mutation in one of the three CCM genes or those that meet 2 of 3 following clinical criteria: 1. Clinical diagnosis of CCM, 2. Multi-focal lesions on MRI, and/or 3. Family history of CCMs. Exclusion Criteria: 1. Patients who cannot or are unwilling to sign informed consent and for whom no appropriate surrogate is available. 2. Prisoners and homeless individuals because of the inability to contact the subject and collect follow-up data using standard procedures.
Inclusion Criteria: - Individual has a CCM mutation confirmed through DNA testing, or - Individual meets 2 or more of the following clinical criteria: 1. Clinical diagnosis of CCM 2. Multi-focal CCMs on MRI 3. Family history of CCM Exclusion Criteria: 1. Individuals who are incarcerated 2. Individuals who are homeless 3. Unable or unwilling to sign the informed consent