Summary

Cerebral cavernomas are vascular malformations in the brain. Approximately 1/1000 individuals has such malformations. In many cases, this lesion does not manifest itself in the carrier. However, when symptoms are generated, they take the form of seizures and/or cerebral hemorrhages. They usually start between 20 and 30 years of age, but clinical manifestations can occur at any age. The diagnosis is made based on cerebral magnetic resonance imaging (MRI). Two forms of the disease are known: one sporadic and the other familial. The latter represents about 20% of the cases and is transmitted by autosomal dominant inheritance. Familial forms can affect men and women; about half of the descendents of affected individuals are carriers of the mutated gene. Treatment essentially consists of prescribing anti-epileptic agents for the seizures and neurosurgery for the lesions responsible for cerebral hemorrhage when justified. The mechanism(s) leading to the development of these lesions is unknown. Recent advances in research on cavernomas have demonstrated the existence of 3 genes responsible for their development that have been localized to the long arm of chromosome 7, the short arm of chromosome 7 and the long arm of chromosome 3. Only the gene situated on chromosome 7q has been identified: KRITI. Patients with cavernomatoses linked to a mutation in this gene either have a truncated Krit1 protein or it is absent.

Expert reviewer(s)

• Pr Pierre LABAUGE
• Pr Elisabeth TOURNIER-LASSERVE