Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
Document Type
Article
Publication Date
2006
Keywords
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
First Page
1489
Last Page
1496
JAX Source
N Engl J Med 2006 Apr; 354(14):1489-96.
Abstract
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.
Recommended Citation
Gould DB,
Phalan FC,
van Mi,
Sundberg JP,
Vahedi K,
Massin P,
Bousser MG,
Heutink P,
Miner JH,
Tournier LE,
John SW.
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 2006 Apr; 354(14):1489-96.