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