TY - JOUR
T1 - Cerebral cavernous malformations
T2 - From molecular pathogenesis to genetic counselling and clinical management
AU - Haasdijk, Remco A.
AU - Cheng, Caroline
AU - Maat-Kievit, Anneke J.
AU - Duckers, Henricus J.
PY - 2012/2
Y1 - 2012/2
N2 - 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.
AB - 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.
KW - CCM
KW - genetic counselling
KW - molecular mechanism
UR - https://www.scopus.com/pages/publications/84855790549
U2 - 10.1038/ejhg.2011.155
DO - 10.1038/ejhg.2011.155
M3 - Review article
C2 - 21829231
AN - SCOPUS:84855790549
SN - 1018-4813
VL - 20
SP - 134
EP - 140
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 2
ER -