Characteristics of cavernomas of the brain and spine

Abstract

The incidence of cavernomas in the general population ranges from 0.3% to 0.5%. They frequently occur in young adults, usually being detected between the second and fifth decade of life, in both sporadic and familial forms. Patients with inherited cavernomas are typically affected by multiple lesions, whereas sporadic forms mostly present with a single lesion. Three genes responsible for development of cavernomas identified to date include CCM1, CCM2, and CCM3. The natural history of brain cavernomas is relatively benign and up to 21% of patients are asymptomatic. The most frequent manifestations of the disease are seizures, focal neurological deficits, and hemorrhage. We review the current literature data on the characteristics of brain and spinal cavernomas.