Cover Page

Cite item


Studies of genomic basis of neurological disorders is very actual in view of their high population prevalence, severe course, serious 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 copy number of microsatellite repeats) 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.


About the authors

E. K. Ginter

Research Center of Medical Genetics, Russian Academy of Medical Sciences

Author for correspondence.
доктор медицинских наук, академик РАМН, директор ФГБУ «Медико- генетический научный центр» РАМН Адрес: 115478, Москва, ул. Москворечье, д. 1 Тел.: (499) 612-86-07 Russian Federation

S. N. Illarioshkin

Research Center of Neurology, Russian Academy of Medical Sciences

доктор медицинских наук, профессор, заместитель директора по научной работе и зав. отделом исследований мозга ФГБУ «Научный центр неврологии» РАМН Адрес: 125367, Москва, Во локоламское шоссе, д. 80 Тел.: (495) 490-20-43 Russian Federation


  1. López-Bigas N., Blencowe B.J., Ouzounis C.A. Highly consistent patterns for inherited human diseases at the molecular level. Bioinformatics. 2005; 22: 269–277.
  2. McKusick V.A. Mendelian inheritance in man and its online version, OMIM. Am. J. Hum. Genet. 2007; 80: 588–604.
  3. Mersiyanova I.V., Perepelov A.V., Polyakov A.V. et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am. J. Hum. Genet. 2000; 67: 37–46.
  4. Illarioshkin S.N., Ivanova-Smolenskaya I.A., Tanaka H. et al. Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene. Genomics. 1997; 42: 345–348.
  5. Illarioshkin S.N., Tanaka H., Markova E.D. et al. X-linked non-progressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq. Ann. Neurol. 1996; 40: 75–83.
  6. Rogaev E.I., Sherrington R., Rogaeva E.A. et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature. 1995; 376: 775–778.
  7. Rogaev E.I., Sherrington R., Wu C. et al. Analysis of the 5-prime sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease. Genomics. 1997; 40: 415–424.
  8. Gene Tests. Available at:
  9. D'Hulst C., Kooy R.F. Fragile X syndrome: from molecular genetics to therapy. J. Med. Genet. 2009; 46: 577–584.
  10. Brouwer J.R., Willemsen R., Oostra D.A. Microsatellite repeat instability and neurological disease. BioEssays. 2009; 31: 71–83.
  11. Illarioshkin S.N., Ivanova-Smolenskaya I.A., Markova E.D. DNK-diagnostika i mediko-geneticheskoe konsul'tirovanie v nevrologii [DNA diagnostics, medical and genetic counseling in Neurology]. Moscow, MIA, 2003.
  12. Orr H.T., Zoghbi H.Y. Trinucleotide repeat disorders. Annu. Rev. Neurosci. 2007; 30: 575–621.
  13. Kononova S.K., Sidorova O.G., Stepanova S.K. et al. Ethical aspects of prenatal diagnosis of hereditary diseases pozdnomanifestiruyuschih dynamic mutations in Yakutia. Med. genetika – Medical genetics. 2010; 9: 10–15.
  14. Nasledstvennye bolezni v populyatsiyakh cheloveka (pod red. E.K. Gintera) [Hereditary diseases in human populations (ed. Ginter EK)]. Moscow, Meditsina, 2002.
  15. Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol. 2009; 8: 654–667.
  16. Ginter E.K. Meditsinskaya genetika [Medical Genetics]. Moscow, Meditsina, 2003.
  17. Rubinsztein D.C. The roles of intracellular protein-degradation pathways in neurodegeneration. Nature. 2006; 443: P.780–786.
  18. Fogel' F., Motul'ski A. Genetika cheloveka [Human Genetics]. V 2-kh t. Moscow, Mir, 1989.
  19. Tsuji S. Genetics of neurodegenerative diseases: insights from high-throughput resequencing. Hum. Mol. Genet. 2010; 19 (Rev. Issue 1): R65–R70.
  20. Hindorff L.A., Sethupathy P., Junkins H.A. et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl. Acad. Sci. USA. 2009; 106: 9362–9367.
  21. Available at:
  22. Shadrina M., Nikopensius T., Slominsky P. et al. Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology. Neurosci. Lett. 2006; 405: 212–216.
  23. Zu T., Duvick L.A., Kaytor M.D. et al. Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. J. Neurosci. 2004; 24: 8853–8861.
  24. Mollenhauer B., Zhang J. Biochemical premotor biomarkers for Parkinson’s disease. Mov. Disord. 2012; 27: 644–650.
  25. Illarioshkin S.N., Klyushnikov S.A., Brylev L.V. et al. Prevention neuroprotection in neurodegenerative diseases: the use of glutamate receptor antagonists (review of the literature and our own experience). Nevrol. zhurnal = Neurological journal. 2006; 5: 47–54.
  26. Schapira A.H.V. Progress in neuroprotection in Parkinson’s disease. Eur. J. Neurol. 2008; 15 (Suppl. 1): 5–13.
  27. Baranov A.N., Kiselev A.V, Baranov V.S. Gene therapy of Duchenne muscular dystrophy. Med. genetika = Medical genetics. 2007; 4: 9–16.
  28. Zavalishin I.A., Bochkov N.P., Suslina Z.A. et al. Gene therapy of amyotrophic lateral sclerosis. Byull. eksperim. biol. med. = Bulletin of experimental and biological medicine. 2008; 4: 467–470..

Comments on this article

Copyright (c) 2012 "Paediatrician" Publishers LLC

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies