medigraphic.com
SPANISH

Neurología, Neurocirugía y Psiquiatría

ISSN 0028-3851 (Print)
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

2024, Number 2-3

<< Back Next >>

Rev Neurol Neurocir Psiquiat 2024; 52 (2-3)

Associated factors with motor impairment in patients with spinocerebellar ataxia

Medina HL, Guevara RM, Hernández OMO, Bosch RBB
Full text How to cite this article 10.35366/122633

DOI

DOI: 10.35366/122633
URL: https://dx.doi.org/10.35366/122633

Language: Spanish
References: 19
Page: 49-54
PDF size: 248.58 Kb.


Key words:

spinocerebellar ataxias, motor deterioration, clinical stages.

ABSTRACT

Introduction: spinocerebellar ataxias (ScAs) are neurodegenerative, progressive, disabling and fatal diseases, characterized by great clinical and molecular heterogeneity. Objective: to determine factors associated with motor deterioration in patients with ScAs. Material and methods: observational, analytical, transversal study in 23 patients diagnosed with ScAs, in the province of Villa Clara, Cuba, during September-2019 and March-2021. The Epidemiological Survey for subjects with Ataxia was applied. For clinical evaluation, the Scale for the Assessment and Rating of Ataxias (SARA) was used. Descriptive statistical analysis was performed for each study variable, in a frequency distribution. To compare means of a variable corresponding to two independent groups, the Student's t-test (t) was used and for the multivariate analysis, an ANOVA variance study (F) was performed. The data was processed in SPSS v.22 for Windows. Results: the mean SARA score ± standard deviation (SD) was 24.93 ± 14.25 in women; 22.50 ± 11.19 in men; 28.20 ± 15.27 in non-white patients and 22.94 ± 12.62 in whites. The ANOVA analysis indicated higher mean SARA ± SD score values for: patients with age of first manifestations at 10 years or less (32.50 ± 14.34), patients with ScA2 (35.00) and ScA3 (20.33 ± 15.31) and patients with more than 30 years of evolution. The mean SARA score values were significantly different between patients in different clinical stages (p = 0.000). Conclusion: ScAs represent a major health problem; several factors are associated with the progression of the disease, and imply a marked motor deterioration.


REFERENCES

  1. Castro-Montesino D, Iglesias-Rojas MB, Ramos-Fernández O, Rojas-Concepción AA. Caracterización clínica genética de pacientes con ataxias hereditarias en el estado de Portuguesa-Venezuela. Rev Peru Investig Salud. 2021; 5 (3): 207-211.

  2. Robinson KJ, Watchon M, Laird AS. Aberrant cerebellar circuitry in the spinocerebellar ataxias. Front Neurosci. 2020; 14: 707.

  3. Ortega-Suero G, Abenza-Abildúa MJ, Serrano-Munuera C, Rouco-Axpe I. Arpa-Gutiérrez FJ, Adarmes-Gómez AD et al. Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España. Neurología: Publicación oficial de la Sociedad Española de Neurología. 2021; 38 (6): 379-386.

  4. Rodríguez-Quiroga S. Ataxias cerebelosas de herencia autosómica dominante. Neurología. 2018.

  5. Velázquez-Pérez L, Cruz GS, Santos-Falcón N, Enrique-Almaguer-Mederos L, Escalona-Batallan K, Rodríguez-Labrada R et al Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin. Neurosci Lett. 2009; 454 (2): 157-160.

  6. Sullivan R, Yau WY, O'Connor E, Houlden H. Spinocerebellar ataxia: an update. Journal of Neurology. 2019; 266: 533-544.

  7. Schmitz-Hübsch T, Tezenas-du-Montcel S, Baliko L, Berciano J, Boesch S, Depondt C et al. Scale for the assessment and rating of ataxia. Development of a new clinical scale. Neurology. 2006; 66 (11): 1717-1720.

  8. Laguna-Caballero A, Pérez-Velázquez L, Marrero-Pérez A. Caracterización clínico-cognitiva de la ataxia espinocerebelosa tipo 2. Rev. Finlay. 2021; 11 (3): 243-254.

  9. Coarelli G, Brice A, Durr A. Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view [version 1; peer review: 3 approved]. F1000Research. 2018; 7 (F1000 Faculty Rev): 1781.

  10. Rodríguez R, Galicia L, Canales N, Voss U, Tuin I, Peña A et al. Sleep spindles and K-complex activities are decreased in spinocerebellar ataxia type 2: relationship to memory and motor performances. Sleep Med. 2019; 60 (1): 188-196.

  11. Vásquez-Cerdas M, Fernández-Morales H. Ataxias espinocerebelosas de herencia autosómica dominante (SCAs): características, clasificación y diagnóstico. Neuroeje. 2012; 25 (1): 9-19.

  12. Paulson H. Repeat expansion diseases. Handb Clin Neurol. 2018; 147: 105-123.

  13. Miller BF, Baehr LM, Musci RV, Reid JJ, Peelor FF 3rd, Hamilton KL, Bodine SC. Muscle-specific changes in protein synthesis with aging and reloading after disuse atrophy. J Cachexia Sarcopenia Muscle. 2019; 10 (6): 1195-1209.

  14. Velázquez-Pérez L, Fernández-Ruiz J, Díaz R, González RP, Ochoa NC, Cruz GS et al. Spinocerebellar ataxia type 2 olfactory impairment shows a pattern similar to other major neurodegenerative diseases. J Neurol. 2006; 253 (9): 1165-1169.

  15. Jacobi H, Du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R et al. Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Lancet Neurol. 2015; 14 (11): 1101-1108.

  16. Orozco DG, Estrada R, Perry T, Araña J, Fernández R. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological and biochemimical findings. J Neurol Sci. 1989; 93: 37-50.

  17. Lalic NM, Dragasevic N, Stefanova E, Jotic A, Lalic K, Milicic T et al. Impaired insulin sensitivity and secretion in normoglycemic patients with spinocerebellar ataxia type 1. Mov Disord. 2010; 25 (12): 1976-1980.

  18. Cruz MMS, Leite CMBA, Schieferdecker MEM, Teive HAG, Vieira BD, Moro A. Estimation of skeletal muscle mass in patients with spinocerebellar ataxia type 3 and 10. Int J Neurosci. 2019; 129 (7): 698-702.

  19. Rodríguez GT, Velázquez PL, Santana PS. Sobre los trastornos nutricionales en las ataxias espinocerebelosas, la enfermedad de Huntington y otras afecciones poliglutamínicas. RCAN. 2019; 29 (1): 191-124.




Table 1
Table 2

2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Rev Neurol Neurocir Psiquiat. 2024;52