TY - JOUR
T1 - Role of COL4A1 in small-vessel disease and hemorrhagic stroke
AU - Gould, Douglas B.
AU - Phalan, F. Campbell
AU - Van Mil, Saskia E.
AU - Sundberg, John P.
AU - Vahedi, Katayoun
AU - Massin, Pascale
AU - Bousser, Marie Germaine
AU - Heutink, Peter
AU - Miner, Jeffrey H.
AU - Tournier-Lasserve, Elisabeth
AU - John, Simon W.M.
PY - 2006/4/6
Y1 - 2006/4/6
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/33645498692
U2 - 10.1056/NEJMoa053727
DO - 10.1056/NEJMoa053727
M3 - Article
C2 - 16598045
AN - SCOPUS:33645498692
SN - 0028-4793
VL - 354
SP - 1489
EP - 1496
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 14
ER -