SNVs or CNVs potentially related to the aggressive course of Relapsing- remitting Multiple Sclerosis: scoping review

Multiple sclerosis (MS) is a chronic, demyelinating, autoimmune disease of the central nervous system, which until a few years ago was classified only according to its phenotype (relapsing-remitting (RR), primary (PP) and secondary progressive (SP)); however, there is a subgroup of RRMS patients with an aggressive disease course due to frequent and severe relapses, incomplete recovery and rapid and permanent accumulation of disability, which has been called aggressive-course MS. The estimated prevalence of "aggressive disease" oscillates between 4% and 14%. Through various genetic analyses, genes potentially related to the susceptibility and clinical course of the disease have been identified(1). There are few associations with genetic markers or variants that determine the aggressive course; however, most of the studies are in European ancestries. It has been estimated that the genetic contribution to MS severity could be as high as 50%, considering the effect of treatments, environmental factors, and stochastic processes. The identification of biomarkers that can distinguish between the two clinical expressions of MS is an important objective to ensure appropriate and timely treatment; moreover, these biomarkers may provide new insight into the pathophysiology of the progressive process and lead to the development of effective treatments for the prevention of disability

MS

realizar un scoping review. se encuentra en el momento en plan de ejecución de protocolo