Hereditary diseases of the nervous system

August 12, 2017 17:51 | Genetic Diseases

Hereditary diseases of the nervous system - is diverse in its manifestations group of diseases that are caused by changes (mutations) in the gene level.Despite the great variety of forms, all of these diseases have in common.These common features of hereditary diseases of the nervous system include varying age of onset of disease, involvement in the pathological process of many organs and systems, and the gradual development of chronic (and in most cases, and continuously progressive) for leading to disability and reduced life.

Differences between hereditary diseases of the nervous system are in different stages of the first signs of a disease, the rate and duration of the course of the disease, resulting in a large difference between the symptoms and their severity.In addition, there is a different degree of resistance of the organism to the treatment for various diseases.A variety of manifestations of hereditary diseases of the nervous system is primarily due to genetic polymorphism, t. E. The fac

t that the same disease caused by the tens and even hundreds of different mutations in the same gene region.Thus some diseased have their genetic material in combination of two distinct pathological changes in the same region of the gene.On the manifestation of a diseased gene is influenced by the external environment and other genes of an organism.Such genes are called modifier genes.

At the same time the same syndrome of nervous disease can be caused by mutations in different genes or portions of genes.This phenomenon is called genetic heterogeneity of hereditary diseases.In fact, in these cases we are talking about different forms of disease, but they are united in one disease due to the high similarity of the manifestations occurring.For the first time the genetic heterogeneity of hereditary diseases noted and introduced the term domestic neurologist S. Davidenkov.This happened in the 30s.XX century.Genetic heterogeneity observed when using clinical and genealogical analysis, when detected that in some families with the same form of the disease are determined by different types of hereditary transmission.