| First Author | Gould DB | Year | 2006 |
| Journal | N Engl J Med | Volume | 354 |
| Issue | 14 | Pages | 1489-96 |
| PubMed ID | 16598045 | Mgi Jnum | J:215446 |
| Mgi Id | MGI:5605372 | Doi | 10.1056/NEJMoa053727 |
| Citation | Gould DB, et al. (2006) Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 354(14):1489-96 |
| abstractText | 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. |
