title: Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.
abstract: 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.
authors.affiliation: Molecular Cardiology Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands.
authors.forename: Remco A
authors.initials: RA
authors.lastname: Haasdijk
authors.forename: Caroline
authors.initials: C
authors.lastname: Cheng
authors.forename: Anneke J
authors.initials: AJ
authors.lastname: Maat-Kievit
authors.forename: Henricus J
authors.initials: HJ
authors.lastname: Duckers
mesh_terms: D020785:Central Nervous System Vascular Malformations / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D020869:Gene Expression Profiling; D056726:Genetic Association Studies; D005817:Genetic Counseling; D006801:Humans; D009154:Mutation; D011379:Prognosis