Эпидемиологические особенности распределения наследственных мозжечковых атаксий

Abstract

Hereditary cerebellar ataxias (HCA) is a heterogeneous group of genetic neurological neurodegenerative diseases with a steadily progressive course. Ataxia is manifested by disturbed equilibrium, speech. Diseases of this group, as a rule, lead to disability of the patient. Advances in the field of molecular genetic research have made it possible to determine the form of HCA in accordance with the type of inheritance, and on this basis a classification of HCA has been formed. Monogenic (autosomal dominant, autosomal recessive, X-linked) and non-traditional types of inheritance of cerebellar ataxias (mitochondrial, expansion of trinucleotide repeats) are distinguished, sporadic forms with an unidentified or unknown type of transmission are also distinguished. Thus, HCA are classified into autosomal dominant spinocerebellar ataxias (SCA), they include 48 forms, some of which are polyglutamine SCA, and autosomal recessive, about 100 nosological entities. In addition, episodic cerebellar ataxia is also classified as an autosomal dominant ataxia. Among autosomal dominant ataxias, SCA3 or Machado-Joseph disease is the most common, followed by SCA2 and SCA6. However, in Russia, the prevalence is different. Among autosomal recessive ataxias, the most common is Friedreich’s ataxia, which also belongs to polyglutamine diseases. It should be taken into account that different methodological approaches lead to great heterogeneity and scattering of results in determining the prevalence of one or another form of hereditary ataxia both within the country and among the countries. The review presents current data on the prevalence of various forms of HCA in different regions of the world and populations. However, there is still a great deal of uncertainty regarding the overall prevalence of certain hereditary forms of cerebellar ataxia.