title: Genetics of cavernous angiomas.
abstract: Cerebral cavernous malformations (CCM) are vascular malformations that can occur as a sporadic or a familial autosomal dominant disorder. Clinical and cerebral MRI data on large series of patients with a genetic form of the disease are now available. In addition, three CCM genes have been identified: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. These recent developments in clinical and molecular genetics have given us useful information about clinical care and genetic counselling and have broadened our understanding of the mechanisms of this disorder.
authors.affiliation: INSERM, U740, Paris, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Labauge
authors.forename: Christian
authors.initials: C
authors.lastname: Denier
authors.forename: Francoise
authors.initials: F
authors.lastname: Bergametti
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Tournier-Lasserve
mesh_terms: D001921:Brain / Q000473:pathology; D005817:Genetic Counseling; D006392:Hemangioma, Cavernous / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008967:Molecular Biology; D011379:Prognosis