Article
Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.
European journal of human genetics : EJHG - 1 Feb 2012
Haasdijk Remco A, Cheng Caroline, Maat-Kievit Anneke J, Duckers Henricus J
Abstract excerpt
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.
Topics
- Central Nervous System Vascular Malformations
- Gene Expression Profiling
- Genetic Association Studies
- Genetic Counseling
- Humans
- Mutation
- Prognosis