Features of spinocerebellar ataxia type 17 in Yakutia (Clinical observation)
https://doi.org/10.25789/YMJ.2020.72.31
Abstract
A literature review of the disease spinocerebellar ataxia type 17 (SCA 17) was carried out. The clinical observation of SCA 17 was presented considering the absence of inverse correlation between a degree of expansion and age of manifestation of SCA 17 symptoms, as well as direct relationship between the degree of expansion of repeats and the severity of clinical manifestations. We also revealed differences in the clinical picture of SCA 17 in this case and SCA 1, which is widespread in Yakutia.
About the Authors
M. A. Varlamova
FSBSI "Yakutsk Scientific Center for Complex Medical Problems"
Russian Federation
Russian Federation
Varlamova Marina Alekseevna - Researcher, Laboratory of Neurodegenerative Diseases, neurologist
T. K. Davydova
FSBSI "Yakutsk Scientific Center for Complex Medical Problems"
Russian Federation
Russian Federation
Davydova Tatiana Kimovna - candidate of medical sciences, senior researcher - head of the laboratory
P. S. Nazarova
FSBSI "Yakutsk Scientific Center for Complex Medical Problems"
Russian Federation
Russian Federation
Nazarova Pelageya Svyatoslavovna - junior researcher, neurologist
O. G. Sidorova
FSBSI "Yakutsk Scientific Center for Complex Medical Problems"
Russian Federation
Russian Federation
Sidorova Oksana Gavrilievna - doctor geneticist of the Clinic of YSC KMP, - Researcher, Laboratory of Neurodegenerative Diseases
V. A. Zakharova
State Budgetary Institution of the Republic of Sakha (Yakutia), the Blood Transfusion Station
Russian Federation
Russian Federation
Zakharova Valentina Arkadyevna - Head of the Clinical Laboratory, Laboratory Assistant-Geneticist
References
1. Clinical-genealogical and molecular-genetic features in patients with spinocerebelly ataxy 1 type and dentatorubropallidolidis atrophy in Yakutia/ M.A.Varlamova, P.S.Nazarova, E. A. Ilyinova [et al.] // Modern problems of science and education. - 2018. - No. 6. - P. 7-9.
2. Spinocerebellar ataxia type 17: first observations in the Russian population / S.A.Klyushnikov, D.A.Prikhodko, N.Yu. Abramycheva [et al]. // Degenerative and Vascular Diseases of the Nervous System: All-Russian Scientific and Practical Conference, dedicated to the 180th anniversary of teaching neurology at the Military Medical Academy. CM. Kirov; ed. By I.V. Litvinenko. - SPb, 2016. – P. 37-39
3. A case of nocturnal frontal lobe epilepsy in a patient with spinocerebellar ataxia type 17/ M. Belluzzo, S. Musho-Ilbeh, F. Monti F. [et al.] // Seizure. -2012. - 21:805–806. doi: 10.1212/01.wnl.0000094123.09098.А0.
4. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? / R. Koide, S. Kobayashi, T. Shimohata [et al.] // Hum. Mol. Genet. – 1999. –Vol. 8. – P. 2047–2053. DOI: 10.1093/hmg/8.11.2047.
5. A patient with 41 CAG repeats in SCA17 presenting with parkinsonism and chorea / H. Park, B.S. Jeon, J.H Shin [et al.] // Parkinsonism Relat Disord. - 2016. – Vol. 22. – P. 106–107. doi: 10.1016/j.parkreldis.2015.11.011.
6. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis / L. Schols, P. Bauer, T. Schmidt [et al.] // Lancet Neurol. – 2004. –Vol. 3- P. 291–304. DOI: 10.1016/S1474-4422(04)00737-9
7. Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation / A.C. Bruni, J. Takahashi-Fujigasaki, F. Maltecca [et al.] // Arch. Neurol. - 2004. – Vol. – P. 1314–1320. DOI: 10.1001/archneur.61.8.1314
8. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia / H. Fujigasaki, J.J. Martin, P.P. De Deyn [et al.] // Brain. – 2001. – Vol. 124. – P. 1939-1947. DOI: 10.1093/brain/124.10.1939
9. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17) / A. Rolfs, A.H. Koeppen, I. Bauer [et al.] // Ann Neurol. – 2003. – Vol. 54. – P. 367-375. DOI: 10.1002/Ана.10676
10. Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia / C. Zuhlke, Y. Hellenbroich, A. Dalski [et al.] // Eur. J. Hum. Genet. - 2001. – Vol. – P. 160–164. DOI: 10.1038/sj.ejhg.5200617.
11. Doherty K.M. Late onset ataxia: MSA-C or SCA 17? A gene penetrance dilemma / K.M.Doherty, T.T.Warner, A.J.Lees // Mov. Disord. -2014. – Vol. 29. – P. 36-38. doi: 10.1002/mds.25770.
12. Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1 / F.A. Platonov, K. Tyryshkin, D.G. Tikhonov [et al.] // Neurogenetics. - 2016. - V.17(3). - Р.179-185. doi: 10.1007/s10048-016-0481-5.
13. Huntington’s disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes / G. Stearin, H. Fujigasaki, A.S. Lebre [et al.] // Brain. – 2003. – Vol. 126. – P. 1599-1603. DOI: 10.1093/brain/awg155
14. Intergenerational instability and marked anticipation in SCA-17 / F. Maltecca, A. Filla, I. Castaldo [et al.] // Neurology. – 2003. – Vol. 61. – P. 1441–1443. DOI: 10.1212/01.wnl.0000094123.09098.А0
15. Intergenerational instability and marked anticipation in SCA-17 / F. Maltecca, A. Filla, I. Castaldo [et al.] // Neurology. – 2003. –Vol. 61. – P. 1441–1443. doi: 10.1212/01.wnl.0000094123.09098.А0.
16. Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family / SA van de Schneider, BP. Warrenburg, TD. Hughes [et al.] // Neurology. - 2006. - Vol. 67. P. 1701–1703. DOI: 10.1212/01.wnl.0000242740.01273.00
17. SCA 17 phenotype with intermediate triplet repeat number / H. Herrema, T. Mikkelsen, A. Robin [et al.] // J. Neurol. Sci. - 2014. –Vol. 345. - P. 269–270. DOI: 10.1016/j.jns.2014.07.041
18. SCA17 homozygote showing Huntington’s disease-like phenotype / Y. Toyoshima, M. Yamada, O. Onodera [et al.] // Ann. Neurol. - 2004. – Vol. 55. – P. 281–286. doi: 10.1002/ana.10824.
19. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein / K. Nakamura, S.Y. Jeong, T. Uchihara [et al.] // Hum. Mol. Genet. - 2001. –Vol. 10. – P. 1441–1448. DOI: 10.1093/hmg/10.14.1441.
20. SCA 17 phenotype with intermediate triplet repeat number / H. Herrema, T. Mikkelsen, A. Robin [et al.] // J. Neurol. Sci. - 2014. – Vol. 345. – P. 269–270. DOI: 10.1016/j.jns.2014.07.041.
21. Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report / T.T. Nielsen, S. Mardosiene, A. Lokkegaard [et al.] // BMC Neurol. - 2012. - Vol. 12. - P. 73. DOI: 10.1186/1471-2377-12-73
22. Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients / C. Mariotti, D. Alpini, R. Fancellu [et al.] // J. Neurol. - 2007. –Vol. 254. – P. 1538–1546. DOI: 10.1007/s00415-007-0579-7
23. Spinocerebellar Ataxia Type 17 / Y. Toyoshima, O. Onodera, M. Yamada [et al.] // In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2005 Mar 29 [updated 2019 Sep 12]. - 1993–2020. PMID: 20301611.
24. The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment / I.S. Lin, R.M. Wu, G.J. Lee-Chen [et al.] // Parkinsonism Relat Disord. - 2007. –Vol. 13. – P. 246–249. DOI: 10.1016/j.parkreldis.
25. Toyoshima Y, Takahashi H. Spinocerebellar Ataxia Type 17 (SCA17). Adv Exp Med Biol. - 2018. –Vol. 1049. P. 219-231. doi: 10.1007/978-3-319-71779-1_10. PMID: 29427105.
26. Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype / P. Bauer, F. Laccone, A. [et al.] // J. Med. Genet. – 2004. –Vol. 41. – P. 230–232. doi: 10.1136/jmg.2003.015602
27. Wild E.J. Huntington’s disease phenocopy syndromes / E.J. Wild, S.J. Tabrizi // Curr Opin Neurol. - 2007. – Vol. 20. – P. 681–687. DOI: 10.1097/ВТО.0b013e3282f12074
Review
For citations:
Varlamova M.A., Davydova T.K., Nazarova P.S., Sidorova O.G., Zakharova V.A. Features of spinocerebellar ataxia type 17 in Yakutia (Clinical observation). Yakut Medical Journal. 2020;(4):125-130. https://doi.org/10.25789/YMJ.2020.72.31
Views:
2
Email this article 