A familial case of spinocerebellar attack type I. Clinical and diagnostic parallels
https://doi.org/10.21886/2712-8156-2025-6-1-88-94
Abstract
Spinocerebellar ataxia is a neurodegenerative disease with an autosomal dominant type of inheritance, rapid progression of clinical manifestations with onset at a young age. The clinical case of a 34-year-old patient with spinocerebellar ataxia type I, burdened by a hereditary history and the formation of the anticipation phenomenon, is considered. It was noted that
clinical symptoms preceded neuroimaging data.
About the Authors
N. A. Fomina-ChertousovaRussian Federation
Neonila A. Fomina-Chertousova, Cand. Sci. (Med.), Associate Professor
Department of Nervous Diseases and Neurosurgery
Rostov-on-Don
E. S. Pivacheva
Russian Federation
Elena S. Pivacheva, 2nd year resident
Department of Nervous Diseases and Neurosurgery
Rostov-on-Don
A. M. Domracheva
Russian Federation
Anastasia M. Domracheva, neurologist
neurological department No. 1
Rostov-on-Don
D. I. Sozaeva
Russian Federation
Diana I. Sozaeva, Dr. Sci. (Med.), Associate Professor
Department of Neurology, Rehabilitation Medicine and Osteopathy
Rostov-on-Don
References
1. Kerkhof LMC, van de Warrenburg BPC, van Roon-Mom WMC, Buijsen RAM. Therapeutic Strategies for Spinocerebellar Ataxia Type 1. Biomolecules. 2023;13(5):788. DOI: 10.3390/biom13050788
2. Jin DK, Oh MR, Song SM, Koh SW, Lee M, Kim GM, et al. Frequency of spinocerebellar ataxia types 1,2,3,6,7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia. J Neurol. 1999;246(3):207-210. DOI: 10.1007/s004150050335
3. Tikhonov D.G., Goldfarb L.G., Neustroeva T.S., Yakovleva N.V., Timofeev L.F., Luckan I.P., et al. The analysis of life span and mortality of patients with spinocerebellar ataxia type I. Problems of social hygiene, public health and history of medicine. 2015;23(6):31-34. (In Russ.) eLIBRARY ID: 25304718 EDN: VHTIDV
4. Opal P., Ashizawa T. Spinocerebellar Ataxia Type 1. In: Adam M.P., Feldman J., Mirzaa G.M., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.
5. Platonov FA, Tyryshkin K, Tikhonov DG, Neustroyeva TS, Sivtseva TM, Yakovleva NV, et al. Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1. Neurogenetics. 2016;17(3):179-185. DOI: 10.1007/s10048-016-0481-5
6. Tejwani L, Lim J. Pathogenic mechanisms underlying spinocerebellar ataxia type 1. Cell Mol Life Sci. 2020;77(20):4015-4029. DOI: 10.1007/s00018-020-03520-z
7. Donato SD, Mariotti C, Taroni F. Spinocerebellar ataxia type 1. Handb Clin Neurol. 2012;103:399-421. DOI: 10.1016/B978-0-444-51892-7.00025-5
8. Matilla-Dueñas A, Goold R, Giunti P. Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum. 2008;7(2):106-114. DOI: 10.1007/s12311-008-0009-0
9. Lebranchu P, Le Meur G, Magot A, David A, Verny C, Weber M, et al. Maculopathy and spinocerebellar ataxia type 1: a new association? J Neuroophthalmol. 2013;33(3):225-231. DOI: 10.1097/WNO.0b013e31828d4add
10. Oertel FC, Zeitz O, Rönnefarth M, Bereuter C, Motamedi S, Zimmermann HG, et al. Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1. Mov Disord Clin Pract. 2020;7(5):502-508. DOI: 10.1002/mdc3.12949
11. Vaclavik V, Borruat FX, Ambresin A, Munier FL. Novel maculopathy in patients with spinocerebellar ataxia type 1 autofluorescence findings and functional characteristics. JAMA Ophthalmol. 2013;131(4):536-538. DOI: 10.1001/jamaophthalmol.2013.1127
12. Fancellu R, Paridi D, Tomasello C, Panzeri M, Castaldo A, Genitrini S, et al. Longitudinal study of cognitive and psychiatric functions in spinocerebellar ataxia types 1 and 2. J Neurol. 2013;260(12):3134-3143. DOI: 10.1007/s00415-013-7138-1
13. Klinke I, Minnerop M, Schmitz-Hübsch T, Hendriks M, Klockgether T, Wüllner U, et al. Neuropsychological features of patients with spinocerebellar ataxia (SCA) types 1, 2, 3, and 6. Cerebellum. 2010;9(3):433-442. DOI: 10.1007/s12311-010-0183-8
14. Ma J, Wu C, Lei J, Zhang X. Cognitive impairments in patients with spinocerebellar ataxia types 1, 2 and 3 are positively correlated to the clinical severity of ataxia symptoms. Int J Clin Exp Med. 2014;7(12):5765-5771. PMID: 25664104; PMCID: PMC4307551.
15. Moriarty A, Cook A, Hunt H, Adams ME, Cipolotti L, Giunti P. A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7. Orphanet J Rare Dis. 2016;11(1):82. DOI: 10.1186/s13023-016-0447-6
16. Olmos V, Gogia N, Luttik K, Haidery F, Lim J. The extra-cerebellar effects of spinocerebellar ataxia type 1 (SCA1): looking beyond the cerebellum. Cell Mol Life Sci. 2022;79(8):404. DOI: 10.1007/s00018-022-04419-7
17. Tichanek F, Salomova M, Jedlicka J, Kuncova J, Pitule P, Macanova T, et al. Hippocampal mitochondrial dysfunction and psychiatric-relevant behavioral deficits in spinocerebellar ataxia 1 mouse model. Sci Rep. 2020;10(1):5418. DOI: 10.1038/s41598-020-62308-0
18. Linnemann C, Tezenas du Montcel S, Rakowicz M, Schmitz-Hübsch T, Szymanski S, Berciano J, et al. Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6. Cerebellum. 2016;15(2):165-173. DOI: 10.1007/s12311-015-0684-6
19. Jhunjhunwala K, Netravathi M, Purushottam M, Jain S, Pal PK. Profile of extrapyramidal manifestations in 85 patients with spinocerebellar ataxia type 1, 2 and 3. J Clin Neurosci. 2014;21(6):1002-1006. DOI: 10.1016/j.jocn.2013.10.021
20. Döhlinger S, Hauser TK, Borkert J, Luft AR, Schulz JB. Magnetic resonance imaging in spinocerebellar ataxias. Cerebellum. 2008;7(2):204-214. DOI: 10.1007/s12311-008-0025-0
21. Ginestroni A, Della Nave R, Tessa C, Giannelli M, De Grandis D, Plasmati R, Salvi F, Piacentini S, Mascalchi M. Brain structural damage in spinocerebellar ataxia type 1 : a VBM study. J Neurol. 2008;255(8):1153-1158. DOI: 10.1007/s00415-008-0860-4
22. Goel G, Pal PK, Ravishankar S, Venkatasubramanian G, Jayakumar PN, Krishna N, et al. Gray matter volume deficits in spinocerebellar ataxia: an optimized voxel based morphometric study. Parkinsonism Relat Disord. 2011;17(7):521-527. DOI: 10.1016/j.parkreldis.2011.04.008
23. Guerrini L, Lolli F, Ginestroni A, Belli G, Della Nave R, Tessa C, et al. Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study. Brain. 2004;127(Pt 8):1785-1795. DOI: 10.1093/brain/awh201
24. Pedroso JL, Barsottini OG. Spinal cord atrophy in spinocerebellar ataxia type 1. Arq Neuropsiquiatr. 2013;71(12):977. DOI: 10.1590/0004-282X20130187
25. Bhandari J., Thada P.K., Samanta D. Spinocerebellar Ataxia. Treasure Island (FL): StatPearls Publishing; 2023.
Review
For citations:
Fomina-Chertousova N.A., Pivacheva E.S., Domracheva A.M., Sozaeva D.I. A familial case of spinocerebellar attack type I. Clinical and diagnostic parallels. South Russian Journal of Therapeutic Practice. 2025;6(1):88-94. (In Russ.) https://doi.org/10.21886/2712-8156-2025-6-1-88-94