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N Engl J Med. 2006 Apr 6;354(14):1489-96.

Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

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1
Howard Hughes Medical Institute, Bar Harbor, Me, USA.

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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PMID:
16598045
DOI:
10.1056/NEJMoa053727
[Indexed for MEDLINE]
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