Molecular genetics of familial cerebral cavernous malformations.
Cerebral cavernous malformations (CMs) are angiographically occult neurovascular lesions that consist of enlarged vascular channels without intervening normal parenchyma. Cavernous malformations can occur as sporadic or autosomal- dominant inherited conditions. Approximately 50% of Hispanic patients with cerebral CMs have the familial form, compared with 10 to 20% of Caucasian patients. There is no difference in the pathological findings or presentation in the sporadic and familial forms. To date, familial CMs have been attributed to mutations at three different loci: CCM1 on 7q21.2, CCM2 on 7p15-p13, or CCM3 on 3q25.2-q27. The authors summarize the current understanding of the molecular events underlying familial CMs.
Dashti
Shervin R
SR
Department of Neurosurgery, University Hospitals of Cleveland, Case School of Medicine, Cleveland, Ohio 44106, USA.
Hoffer
Alan
A
Hu
Yin C
YC
Selman
Warren R
WR
D000818:Animals; D001932:Brain Neoplasms / Q000235:genetics* / Q000503:physiopathology; D002550:Cerebral Veins / Q000002:abnormalities* / Q000473:pathology* / Q000503:physiopathology; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics* / Q000503:physiopathology; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D000075927:KRIT1 Protein; D051379:Mice; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009389:Neovascularization, Pathologic / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics
D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins