The site of the Media Sphera Publishers contains materials intended solely for healthcare professionals.
By closing this message, you confirm that you are a certified medical professional or a student of a medical educational institution.

Login
EN
+7 (495) 482-4118
+7 (495) 482-4329
+8 800 250-18-12
  • (toll-free number for subscriptions)
    Mon-Fri from 10 a.m. to 6 p.m.

  • © 1998-2026
+7 (495) 482-43-29
EN
All journals
Journal
Year
Year
Search result: 0

Nuzhnyi E.P.

Research Center of Neurology

Abramycheva N.Yu.

Research Centre for Neurology

Chkhartishvili I.A.

Research Center of Neurology

Protopopova A.O.

Research Center of Neurology

Fedotova E.Yu.

Research Center of Neurology

Illarioshkin S.N.

Research Center of Neurology

Spinocerebellar ataxia type 8 in Russian patients

Authors:

Nuzhnyi E.P., Abramycheva N.Yu., Chkhartishvili I.A., Protopopova A.O., Fedotova E.Yu., Illarioshkin S.N.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2022;122(8): 106‑111

DOI: 10.17116/jnevro2022122081106

Read: 2916 times

Download PDF (RU)
Contact the author
Table of contents

SPINOCEREBELLAR ATAXIA TYPE 8 IN RUSSIAN PATIENTS
SPINOCEREBELLAR ATAXIA TYPE 8 IN RUSSIAN PATIENTS

To cite this article:

Nuzhnyi EP, Abramycheva NYu, Chkhartishvili IA, Protopopova AO, Fedotova EYu, Illarioshkin SN. Spinocerebellar ataxia type 8 in Russian patients. S.S. Korsakov Journal of Neurology and Psychiatry. 2022;122(8):106‑111. (In Russ.)
https://doi.org/10.17116/jnevro2022122081106

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
МСФ на ЯМ
Использование инфографики авторами научных работ
Close metadata
Recommended articles:
Type 28 spinocerebellar ataxia. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;(11-2):61-64
Abstract:

OBJECTIVE

To assess the incidence of spinocerebellar ataxia type 8 (SCA8) in patients with progressive cerebellar ataxia and describe the clinical features of the SCA8 phenotype in Russian patients.

MATERIAL AND METHODS

Genotyping of CTA/CTG repeats in ATXN8OS gene was carried out in 411 patients with degenerative ataxias using fragment analysis. SCA types 1, 2, 3 and 6 as well as Friedreich’s ataxia were preliminarily excluded. All patients underwent brain MRI study. Scale for the Assessment and Rating of Ataxia (SARA), and the Montreal Cognitive Assessment Scale (MoCA) to screen for cognitive impairment were used.

RESULTS

Six patients with SCA8 (1.5%) were identified as carriers of the expansion in the ATXN8OS gene (91—152 CTA/CTG repeats). All cases were sporadic. Age of onset ranged from 14 to 42 years. All patients had slowly progressive cerebellar ataxia, oculomotor disturbances, dysarthria, pyramidal signs, and two patients had cognitive impairment. In one patient the clinical presentation corresponded to multiple system atrophy cerebellar type (ataxia, orthostatic hypotension, cerebellum and brainstem atrophy). Brain MRI study in all patients revealed cerebellar atrophy.

CONCLUSION

SCA8 is a rare form of autosomal dominant ataxia with a predominance of the classical phenotype. All identified cases of SCA8 were sporadic, which should be taken into account when planning genetic testing in patients with spinocerebellar ataxia.

Keywords:

spinocerebellar ataxia type 8
ATXN8 gene
ATXN8OS gene
expansion
ataxia

Authors:

Nuzhnyi E.P.

Research Center of Neurology

Abramycheva N.Yu.

Research Centre for Neurology

Chkhartishvili I.A.

Research Center of Neurology

Protopopova A.O.

Research Center of Neurology

Fedotova E.Yu.

Research Center of Neurology

Illarioshkin S.N.

Research Center of Neurology

Received:

22.03.2022

Accepted:

23.03.2022

Close metadata

References:

  1. Koob M, Moseley M, Schut L, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nature Genetics. 1999;21(4):379-384.  https://doi.org/10.1038/7710
  2. Juvonen V, Hietala M, Paivarinta M, et al. Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. Ann Neurol. 2000;48(3):354-361. https://doi.org/10.1002/1531-8249(200009)48:3<354::AID-ANA10>3.0.CO;2-A "> 3.0.CO;2-A" target="_blank">https://doi.org/10.1002/1531-8249(200009)48:3<354::AID-ANA10>3.0.CO;2-A
  3. Ikeda Y, Dalton JC, Moseley ML, et al. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet. 2004;75(1):3-16.  https://doi.org/10.1086/422014
  4. Zeman A, Stone J, Porteous M, et al. Spinocerebellar ataxia type 8 in Scotland: Genetic and clinical features in seven unrelated cases and a review of published reports. J Neurol Neurosurg Psychiatry. 2004;75(3):459-465.  https://doi.org/10.1136/jnnp.2003.018895
  5. Silveira I, Alonso I, Guimaraes L, et al. High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. Am J Hum Genet. 2000;66(3):830-840.  https://doi.org/10.1086/302827
  6. Cellini E, Nacmias B, Forleo P, et al. Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy. Arch Neurol. 2001;58(11):1856-1859. https://doi.org/10.1001/archneur.58.11.1856
  7. Cintra VP, Lourenço CM, Marques SE, et al. Mutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxia. J Neurol Sci. 2014;347(1-2):375-379.  https://doi.org/10.1016/j.jns.2014.10.036
  8. Musova Z, Sedlacek Z, Mazanec R, et al. Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech Ataxic patients. Cerebellum. 2013;12(2):155-161.  https://doi.org/10.1007/s12311-012-0403-5
  9. Hu Y, Hashimoto Y, Ishii T, et al. Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects. J Neurol Sci. 2017;382:87-90.  https://doi.org/10.1016/j.jns.2017.08.3256
  10. Zhou Y, Yuan Y, Liu Z, et al. Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China. J Neurol. 2019;266(12):2979-2986. https://doi.org/10.1111/cge.12706
  11. Cleary JD, Subramony SH, Ranum LPW, et al. Spinocerebellar Ataxia Type 8. In: Adam M.P., Ardinger H.H., Pagon R.A., et al., editors. Gene Reviews. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
  12. Ikeda Y, Daughters RS, Ranum LP. Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. Cerebellum. 2008;7(2):150-158.  https://doi.org/10.1007/s12311-008-0010-7
  13. Moseley ML, Zu T, Ikeda Y, et al. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet. 2006;38(7):758-769.  https://doi.org/10.1038/ng1827
  14. Ivanova EO, Moskalenko AN, Fedotova EYu, et al. Myotonic dystrophy: genetics and clinical polymorphism. Annaly Klinicheskoy i Experimental’noy Nevrologii. 2019;13(1):15-25. (In Russ.). https://doi.org/10.25692/ACEN.2019.1.2
  15. Moseley ML, Schut LJ, Bird TD, et al. SCA8 CTG repeat: En masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. Hum Mol Genet. 2000;9(14):2125-2130. https://doi.org/10.1093/hmg/9.14.2125
  16. Mosemiller AK, Dalton JC, Day JW, Ranum LP. Molecular genetics of spinocerebellar ataxia type 8 (SCA8). Cytogenet Genome Res. 2003;100(1-4):175-183.  https://doi.org/10.1159/000072852
  17. Todd PK, Paulson HL. RNA-mediated neurodegeneration in repeat expansion disorders. Ann Neurol. 2010;67(3):291-300.  https://doi.org/10.1002/ana.21948
  18. Worth PF, Houlden H, Giunti P, et al. Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. Nat Genet. 2000;24(3):214-215.  https://doi.org/10.1038/73411
  19. Day JW, Schut LJ, Moseley ML, et al. Spinocerebellar ataxia type 8: Clinical features in a large family. Neurology. 2000;55(5):649-657.  https://doi.org/10.1212/wnl.55.5.649
  20. Swaminathan A. Epilepsy in spinocerebellar ataxia type 8: A case report. J Med Case Rep. 2019;13(1):333.  https://doi.org/10.1186/s13256-019-2270-x
  21. Kim JS, Son TO, Youn J, et al. Non-ataxic phenotypes of SCA8 mimicking amyotrophic lateral sclerosis and Parkinson disease. J Clin Neurol. 2013;9(4):274-279.  https://doi.org/10.3988/jcn.2013.9.4.274
  22. Smetcoren C, Weckhuysen D. SCA 8 mimicking MSA-C. Acta Neurol Belg. 2016;116(2):221-222.  https://doi.org/10.1007/s13760-015-0523-z
  23. Gupta A, Jankovic J. Spinocerebellar ataxia 8: variable phenotype and unique pathogenesis. Park Relat Disord. 2009;15(9):621-626.  https://doi.org/10.1016/j.parkreldis.2009.06.001
  24. Aydin G, Dekomien G, Hoffjan S, et al. Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes. BMC Neurol. 2018;18(1):3.  https://doi.org/10.1186/s12883-017-1009-9
  25. Sobrido MJ, Cholfin JA, Perlman S, et al. SCA8 repeat expansions in ataxia: a controversial association. Neurology. 2001;57(7):1310-1312. https://doi.org/10.1212/wnl.57.7.1310
  26. Munhoz RP, Teive HA, Raskin S, Werneck LC. CTA/CTG expansions at the SCA 8 locus in multiple system atrophy. Clin Neurol Neurosurg. 2009;111(2):208-210.  https://doi.org/10.1016/j.clineuro.2008.09.003
Contact the author
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.

Email Confirmation

An email was sent to test@gmail.com with a confirmation link. Follow the link from the letter to complete the registration on the site.

Email Confirmation

Submit Application

You can become an author of one of our magazines, send a request and we will consider it in during the day.

Name
Phone
E-mail
Message
Login
Registration
E-mail
Password
Forgot Password?

Log in to the site using your account in one of the services

Password recovery
E-mail
Login
Register

We use cооkies to improve the performance of the site. By staying on our site, you agree to the terms of use of cооkies. To view our Privacy and Cookie Policy, please. click here.