title: Genetic markers and their influence on cerebrovascular malformations.
abstract: Cerebrospinal vascular malformations are a group of anomalies affecting the arterial wall, the capillary arteriovenous interface, or the venous and lymphatic structures. Heritability and family studies allow identification of mutations in single genes associated with rare familial conditions causing cerebral or spinal vascular malformations, as is the case in hemorrhagic hereditary telangiectasia diseases. This article reviews the genetic and epigenetic influences increasingly reported in recent years as causal factors or triggers involved in the formation and growth of cerebromedullary vascular malformations.
authors.affiliation: Interventional Neuroradiology, UNC at Chapel Hill, Chapel Hill, NC 27516, USA.
authors.forename: Hortensia
authors.initials: H
authors.lastname: Alvarez
authors.affiliation: UNC at Chapel Hill, Chapel Hill, NC 27516, USA. Electronic address: castillo@med.unc.edu.
authors.forename: Mauricio
authors.initials: M
authors.lastname: Castillo
mesh_terms: D003952:Diagnostic Imaging / Q000379:methods*; D005819:Genetic Markers; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D005819:Genetic Markers
keywords: Cerebral aneurysm; Cerebral vascular malformation; Congenital vascular disorder; Gene expression; Hereditary hemorrhagic telangiectasia