Genetics of cavernous angiomas.
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.
Labauge
Pierre
P
INSERM, U740, Paris, France.
Denier
Christian
C
Bergametti
Francoise
F
Tournier-Lasserve
Elisabeth
E
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