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Previous Volume 354:1489-1496 April 6, 2006 Number 14 Next

	Full Text PDF PDA Full Text PowerPoint Slide Set Supplementary Material Perspective by Greenberg, S. M. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited E-mail When Letters Appear PubMed Citation

SUMMARY

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 1, 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.

Source Information

From the Howard Hughes Medical Institute (D.B.G., F.C.P., S.W.M.J.) and the Jackson Laboratory (D.B.G., F.C.P., J.P.S., S.W.M.J.) — both in Bar Harbor, Me.; the Department of Human Genetics, Section of Medical Genomics, VU University Medical Center, and the Center for Neurogenomics and Cognitive Research, VU University and VU University Medical Center, Amsterdam (S.E.M., P.H.); Service de Neurologie (K.V., M.G.B.) and Service d'Ophtalmologie (P.M.), Assistance Publique des Hôpitaux de Paris, Hôpital Lariboisière, Paris; INSERM Unité 740 and Laboratoire de Génétique, Assistance Publique des Hôpitaux de Paris, Paris (M.G.B., E.T.-L.); the Renal Division, Washington University School of Medicine, St. Louis (J.H.M.); and the Department of Ophthalmology, Tufts University School of Medicine, Boston (S.W.M.J.).

Address reprint requests to Dr. John at the Jackson Laboratory, 600 Main St., Bar Harbor, ME 04609, or at swmj{at}jax.org.

Full Text of this Article

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