Cerebral cavernous malformations: From molecular pathogenesis to genetic counselling and clinical management
European Journal of Human Genetics , Volume 20 - Issue 2 p. 134- 140
Cerebral cavernous (or capillary-venous) malformations (CCM) have a prevalence of about 0.1-0.5% in the general population. Genes mutated in CCM encode proteins that modulate junction formation between vascular endothelial cells. Mutations lead to the development of abnormal vascular structures.In this article, we review the clinical features, molecular and genetic basis of the disease, and management.
|CCM, genetic counselling, molecular mechanism|
|European Journal of Human Genetics|
|Organisation||Department of Cardio-Thoracic Surgery|
Haasdijk, R.A, Cheng, C, Maat-Kievit, A.A, & Duckers, H.J. (2012). Cerebral cavernous malformations: From molecular pathogenesis to genetic counselling and clinical management. European Journal of Human Genetics (Vol. 20, pp. 134–140). doi:10.1038/ejhg.2011.155