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. 2006 Apr 6;354(14):1489-96.
doi: 10.1056/NEJMoa053727.

Role of COL4A1 in small-vessel disease and hemorrhagic stroke

Douglas B Gould  1 , F Campbell Phalan, Saskia E van Mil, John P Sundberg, Katayoun Vahedi, Pascale Massin, Marie Germaine Bousser, Peter Heutink, Jeffrey H Miner, Elisabeth Tournier-Lasserve, Simon W M John
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Free article

Role of COL4A1 in small-vessel disease and hemorrhagic stroke

Douglas B Gould et al. N Engl J Med. .
Free article

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.

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Comment in

  • Small vessels, big problems.
    Greenberg SM. Greenberg SM. N Engl J Med. 2006 Apr 6;354(14):1451-3. doi: 10.1056/NEJMp068043. N Engl J Med. 2006. PMID: 16598043 No abstract available.

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