Polymorphisms in genes related to oxidative stress and inflammation: Emerging links with the pathogenesis and severity of Cerebral Cavernous Malformation disease.

Abstract excerpt

Cerebral Cavernous Malformation (CCM) is a cerebrovascular disease of genetic origin affecting 0.5% of the population and characterized by abnormally enlarged and leaky capillaries that predispose to seizures, neurological deficits, and intracerebral hemorrhage (ICH). CCM occurs sporadically or is inherited as dominant condition with incomplete penetrance and highly variable expressivity. Three disease genes have...

Topics

• Genome-Wide Association Study
• Hemangioma, Cavernous, Central Nervous System
• Humans
• Inflammation
• KRIT1 Protein
• Microtubule-Associated Proteins
• Mutation
• Oxidative Stress
• Polymorphism, Genetic