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Review of treatment and therapeutic targets in brain arteriovenous malformation

Authors :
Ethan A. Winkler
Shantel Weinsheimer
Hua Su
Daniel L Cooke
Adib A. Abla
Helen Kim
Peipei Pan
Source :
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism, vol 41, iss 12, J Cereb Blood Flow Metab
Publication Year :
2021
Publisher :
eScholarship, University of California, 2021.

Abstract

Brain arteriovenous malformations (bAVM) are an important cause of intracranial hemorrhage (ICH), especially in younger patients. The pathogenesis of bAVM are largely unknown. Current understanding of bAVM etiology is based on studying genetic syndromes, animal models, and surgically resected specimens from patients. The identification of activating somatic mutations in the Kirsten rat sarcoma viral oncogene homologue (KRAS) gene and other mitogen-activated protein kinase ( MAPK) pathway genes has opened up new avenues for bAVM study, leading to a paradigm shift to search for somatic, de novo mutations in sporadic bAVMs instead of focusing on inherited genetic mutations. Through the development of new models and understanding of pathways involved in maintaining normal vascular structure and functions, promising therapeutic targets have been identified and safety and efficacy studies are underway in animal models and in patients. The goal of this paper is to provide a thorough review or current diagnostic and treatment tools, known genes and key pathways involved in bAVM pathogenesis to summarize current treatment options and potential therapeutic targets uncovered by recent discoveries.

Details

Database :
OpenAIRE
Journal :
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism, vol 41, iss 12, J Cereb Blood Flow Metab
Accession number :
edsair.doi.dedup.....ebade232220477672d0d4d20c370c878