In the last decade there have been fundamental advances in our understanding of the pathogenesis of vascular malformations. These advances have resulted from the application of molecular methods to identify disease genes, rather than from immunohistochemical or physiological studies. This presentation reviews the genetic basis of a variety of cerebral vascular malformations which occur as part of well-characterised diseases inherited in an autosomal dominant manner. These highlight the diversity of mechanisms which can perturb vascular development, and should have significant implications for the development of new therapies.
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