Neuroimaging clinics of North America
-
Neuroimaging Clin. N. Am. · Feb 2015
ReviewGenetic markers and their influence on cerebrovascular malformations.
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.
-
Neuroimaging Clin. N. Am. · Feb 2015
ReviewMolecular genetics of glioblastomas: defining subtypes and understanding the biology.
Despite comprehensive therapy, which includes surgery, radiotherapy, and chemotherapy, the prognosis of glioblastoma multiforme is very poor. Diagnosed individuals present an average of 12 to 18 months of life. ⋯ Despite the overwhelming amount of data available, so far little has been translated into real benefits for the patient. Because this is such a complex topic, the goal is to point out the main alterations in the biological pathways that lead to tumor formation, and how this can contribute to the development of better therapies and clinical care.
-
Neuroimaging Clin. N. Am. · Feb 2015
Brain imaging and genetic risk in the pediatric population, part 2: congenital malformations of the central nervous system.
In this article, an update is presented of the correlation of imaging and genetic findings in congenital malformations of the central nervous system (CMCNS). A nonsystematic search of the PubMed/Medline database was performed. ⋯ The highlights of genotype-imaging phenotype correlation of some congenital malformations are provided. It is hoped that developments in genotype-MR phenotype in CMCNS will foster further prognostic and pathogenic breakthroughs for the frequently associated neurologic dysfunction in children affected by these common diseases.