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Evaluating strategies for the treatment of cerebral cavernous malformations Li DY; Whitehead KJStroke 2010[Oct]; 41 (10 Suppl): S92-4Cerebral 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.|Hemangioma, Cavernous, Central Nervous System/*genetics/*therapy[MESH]|Humans[MESH]|Intracranial Arteriovenous Malformations/*genetics/*therapy[MESH] |
