Hypotheses of genetic aspects of the pathogenesis of type 1 Chiari malformation

Abstract

Relevance. The study of the genetic mechanisms of the Chiari malformation is based on the study of genes of a possible predisposition to this pathology in combination with environmental factors that form the pathogenetic chain of the disease. Objectives of the research — to analyze foreign and Russian publications. Based on the literature, study the hypothesis of the genetic aspects of the pathogenesis of Chiari malformation. Findings. Based on the data of domestic and foreign literature, one can judge a breakthrough in the study of the genetic nature of the Chiari malformation, however, there is still no consensus on the pathogenesis of this disease, the responsible gene causing the pathology also remains unidentified. Further study of the genetically determined mechanism of the malformation will help in an interdisciplinary approach for gene diagnostics and personalized prevention of the craniovertebral region pathology.