Monogenic signs of susceptibility to ischemic stroke: literature review

Abstract

Genetic factors are the important chain in the complex conditions determining the development of ischemic stroke. Mutations have different significance for the risk of its development. Monogenic syndromes define clearly determined type of stroke. These syndromes include: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL, mutation in the NOTCH3 gene); cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL, mutation in the HTRA1 gene); Fabry disease (FD, GLA D313Y mutation); COL4A1-related brain small vessel disease associated with mutation in the gene encoding IVα1 collagen; Ehlers Danlos syndrome (EDS) caused by mutation in the COL3A1 gene; hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS, mutation in the TREX1 gene); sickle cell disease (SCD, mutation in the beta-globin gene); homocystinuria - hereditary metabolic disorder associated with mutations in the MTHFR, MTRR, MTR CBS genes of the folate cycle; neurofibromatosis type 1 (NF1, mutation in the gene NF1); hereditary hemorrhagic telangiectasia (HHT, mutations in the ENG, ALK1 or SMAD4 genes); hereditary cerebral amyloid angiopathy (CAA, mutation in the APP gene); cerebral cavernous malformations (CCM, mutations in the CCM1, CCM2 or CCM3 genes); mithochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS, mutations in the MT-ND1, MT-ND5, MT-TH, MT-TL1, MT-TV genes).The study of the genetic profile permits to personify medical tactics in ischemic stroke.