Role of COL4A1 in small-vessel disease and hemorrhagic stroke

Douglas B. Gould, 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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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 α1, 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.

Original languageEnglish
Pages (from-to)1489-1496
Number of pages8
JournalNew England Journal of Medicine
Volume354
Issue number14
DOIs
StatePublished - Apr 6 2006

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    Gould, D. B., Phalan, F. C., Van Mil, S. E., Sundberg, J. P., Vahedi, K., Massin, P., Bousser, M. G., Heutink, P., Miner, J. H., Tournier-Lasserve, E., & John, S. W. M. (2006). Role of COL4A1 in small-vessel disease and hemorrhagic stroke. New England Journal of Medicine, 354(14), 1489-1496. https://doi.org/10.1056/NEJMoa053727