[Contribution of molecular genetics in cavernous angiomas]

Abstract

In 20% of cases, central nervous system cavernomas are an autosomal dominant familial disease. In these cases, lesions are multiple and one or more parents suffer of the same affection. Three genes (CCM 1, 2 and 3) have been identified since 1999, two on chromosome 7 (one on each arm) and one on the short arm of chromosome 3. The role of these genes in normal cerebral angiogenesis is unknown today. In clinical practice, molecular tests may be useful in some situations: 1) in sporadic cases with a unique lesion, molecular test should not be performed since these cases are not genetic; 2) in patients with multiple lesions who have an affected relative, the genetic nature of the disease is obvious and molecular tests are useful only for genetic counseling; 3) in sporadic cases with multiple lesions and no known affected relative, molecular tests can establish the genetic nature of the disease and be useful for genetic counseling.