Genetic heterogeneity of hereditary diseases of nervous system: problems and solutions

Abstract

A hereditary disorders of the nervous system is one of the largest group of human monogenic disorders with high-grade genetic heterogeneity and clinical polymorphism. The main types of genetic heterogeneity and their possible causes are explained by giving typical examples of different nosological forms. The basic problems and feasible solution of medico-genetic counseling and education of high-risk families in case of genetic heterogeneity are discussed.

Keywords

• наследственные болезни нервной системы
• генетическая гетерогенность
• клинический полиморфизм
• медико- генетическое консультирование