title: Evaluating strategies for the treatment of cerebral cavernous malformations.
abstract: 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.
authors.affiliation: Department of Medicine, University of Utah, Salt Lake City, Utah 84112-5330, USA. dean@u2m2.utah.edu
authors.forename: Dean Y
authors.initials: DY
authors.lastname: Li
authors.forename: Kevin J
authors.initials: KJ
authors.lastname: Whitehead
mesh_terms: D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics* / Q000628:therapy*; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000235:genetics* / Q000628:therapy*