[HTML][HTML] Role of COL4A1 in small-vessel disease and hemorrhagic stroke

DB Gould, FC Phalan, SE Van Mil… - … England Journal of …, 2006 - Mass Medical Soc
DB Gould, FC Phalan, SE Van Mil, JP Sundberg, K Vahedi, P Massin, MG Bousser…
New England Journal of Medicine, 2006Mass Medical Soc
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 …
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.
The New England Journal Of Medicine