Evaluating strategies for the treatment of cerebral cavernous malformations

Stroke. 2010 Oct;41(10 Suppl):S92-4. doi: 10.1161/STROKEAHA.110.594929.


Cerebral cavernous malformations are common vascular lesions of the central nervous system that predispose to seizures, focal neurological deficits, and potentially fatal hemorrhagic stroke. Human genetic studies have identified 3 genes associated with the disease, and biochemical studies of these proteins have identified interaction partners and possible signaling pathways. A recurring theme dominating the recent scientific literature is the causal link between mutations in the 3 cerebral cavernous malformation genes and hyperactivation of the small GTP exchange protein, RhoA, and the efficacy of reducing this hyperactivation using inexpensive and well-studied medicines, statins. Familial cerebral cavernous malformation offers a unique opportunity to use a personalized genomic medicine approach to identify a subset of patients prone to intracerebral hemorrhage that may benefit from a pharmacological therapy, where presently only neurosurgical options are available.

Publication types

  • Review

MeSH terms

  • Hemangioma, Cavernous, Central Nervous System / genetics*
  • Hemangioma, Cavernous, Central Nervous System / therapy*
  • Humans
  • Intracranial Arteriovenous Malformations / genetics*
  • Intracranial Arteriovenous Malformations / therapy*