Advance of genetics and genomics in neurology
Ginter, E.K.; Illarioshkin, S.N.
Vestnik Rossiiskoi Akademii Meditsinskikh Nauk 8: 14-20
2012
ISSN/ISBN: 0869-6047 PMID: 23166984 Document Number: 658671
Studies of genomic background of neurological disorders are very actual in view of their high population prevalence, severe course, serious impact on patients' disability and progressive mental and physical de-adaptation. In the paper, problems of genetic heterogeneity of hereditary neurological disorders and character of the respective genetic burden in the regions of Russian Federation are discussed in detail, a 'dynamic' type of mutations (increase in number of microsatellite repeats copies) attributable to many neurodegenerative diseases is analyzed, and achievements of Russian researchers in the identification of genes for hereditary neurological disorders and in the realization of pilot protocols of gene therapy are presented. Problems related to studies of genetic predisposition to common multifactorial diseases of the nervous system are discussed.