Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
Article Details
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Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW
Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
N Engl J Med. 2006 Apr 6;354(14):1489-96. doi: 10.1056/NEJMoa053727.
- PubMed ID
- 16598045 [ View in PubMed]
- 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.