Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

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Brain, Cerebral-Hemorrhage, Cerebrovascular-Accident, Collagen-Type-IV, Female, Genetic-Predisposition-to-Disease, Glomerular-Basement-Membrane, Humans, Male, Mice-Inbred-C57BL, Mice-Mutant-Strains, Microcirculation, Mutation, Pedigree, Renal-Artery, Retinal-Artery, Risk-Factors, Stress

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N Engl J Med 2006 Apr; 354(14):1489-96.


Small-vessel diseases of the brain underlie 20 to 30 percent of ischemic strokes and a larger proportion of intracerebral hemorrhages. In this report, we show that a mutation in the mouse Col4a1 gene, encoding procollagen type IV alpha1, predisposes both newborn and adult mice to intracerebral hemorrhage. Surgical delivery of mutant mice alleviated birth-associated trauma and hemorrhage. We identified a COL4A1 mutation in a human family with small-vessel disease. We concluded that mutation of COL4A1 may cause a spectrum of cerebrovascular phenotypes and that persons with COL4A1 mutations may be predisposed to hemorrhage, especially after environmental stress.

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