Familial cerebral cavernous malformations
CP-107
Familial Cavernous Malformation (FCM) is a hereditary condition characterized by the presence of multiple cavernous malformations (vascular lesions) in the brain and spinal cord. It is caused by mutations in specific genes critically involved in the functional stability of the endothelial wall’s physiology and anatomy. The condition often presents with recurrent headaches, seizures, neurological deficits such as weakness or vision changes, and cerebral hemorrhages. Symptoms can vary widely, from being asymptomatic to severe. The frequency of FCM is estimated at 1 in 5,000 to 1 in 10,000 people. There is currently no treatment available for FCM.