Advances in molecular genetics and pathology of cerebrovascular disorders

Progress in molecular genetics has enabled the dissection of several autosomal dominantly inherited forms of cerebrovascular disorders. Mutations in diverse genes might induce pathological changes in intracranial vessels, resulting in cerebral haemorrhages and ischaemic strokes. Such pathologies, however, might also result from systemic vascular disease caused by mutations or polymorphisms in genes that regulate cardiovascular physiology, blood coagulation, lipid metabolism and metabolic functions. Interestingly, several mutations that directly affect CNS vasculature involve genes that control inter- or intracellular signalling functions. Although highly variable phenotypes make it difficult to pinpoint the genotypes, genetic characterization of cerebrovascular disorders is valuable for understanding the pathogenesis and management of sporadic disease.