Research on spinocerebellar ataxia type 2 in Cuba: a bibliometric analysis
Palabras clave:
Análisis bibliométrico; Colaboración científica cubana; Investigación genética y clínica; Alianzas internacionales; Ataxia espinocerebelosa tipo 2 (SCA2)Resumen
Introduction: Spinocerebellar Ataxia Type 2 is a hereditary neurodegenerative disorder. Over the past three decades, Cuban researchers have significantly advanced in the understanding of it. Their contributions span epidemiological surveillance, genetic and molecular research, biomarker discovery, clinical characterization, and therapeutic strategies.
Objective: To provide a comprehensive bibliometric analysis of Spinocerebellar Ataxia Type 2 research in Cuba from 1996 to 2024.
Methods: The study utilized data from 71 articles and reviews on Spinocerebellar Ataxia Type 2, accessed through the Web of Science database. VOS viewer software was employed to analyze keyword co-occurrence, co-author, and institutional collaboration networks. Co-word analysis identified thematic shifts, while co-authorship and institutional networks mapped collaboration patterns across national and international partners.
Results: Results show an evolution in Cuban Spinocerebellar Ataxia Type 2 research from initial genetic studies focused on CAG repeat expansions in the ATXN2 gene to recent patient-centered clinical research, emphasizing diagnosis, biomarkers, and disease progression. Key institutions such as the Center for Research and Rehabilitation of Hereditary Ataxias, Cuban Academy of Sciences, and Cuban Center for Neurosciences emerged as primary research hubs, with longstanding collaborations involving German institutions. Newer partnerships with Latin American institutions, particularly the National Autonomous University of Mexico, reflect a regional focus on population-specific studies.
Conclusions: The thematic progression in Spinocerebellar Ataxia Type 2 research reflects a shift toward translational and patient-focused approaches. Cuban-led Spinocerebellar Ataxia Type 2 research exemplifies successful international and regional collaboration, providing a model for tackling complex, population-specific health issues. Continued efforts in biomarker discovery, therapeutic development, and clinical applications are essential for advancing patient care and research impact in Spinocerebellar Ataxia Type 2. This bibliometric study offers strategic insights for guiding future research directions in Spinocerebellar Ataxia Type 2.
Descargas
Citas
1. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, LopesCendes I, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet. 1996;14(3):269-76. Available from: https://doi.org/10.1038/ng1196-269
2. Magaña JJ, Velázquez-Pérez L, Cisneros B. Spinocerebellar Ataxia Type 2: Clinical Presentation, Molecular Mechanisms, and Therapeutic Perspectives. Mol Neurobiol. 2013;47(1):90-104. Available from: https://doi.org/10.1007/s12035-012-8348-8
3. Schols L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004;3(5):291-304. Available from: https://doi.org/10.1016/S1474-4422(04)00737-9
4. Velazquez Perez L, Cruz GS, Santos Falcon N, Enrique Almaguer Mederos L, Escalona Batallan K, Rodriguez Labrada R, et al. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin. Neurosci Lett. 2009;454(2):157-60. Available from: https://doi.org/10.1016/j.neulet.2009.03.015
5. Velázquez-Pérez L, Rodríguez-Labrada R, Gonzalez-Garcés Y, Canales-Ochoa N, Medrano-Montero J, Domínguez-Barrios Y, et al. COVID-19 Impacts the Mental Health and Speech Function in Spinocerebellar Ataxia Type 2: Evidences from a Follow-Up Study. Cerebellum. 2024;23(3):1101-11. Available from: https://doi.org/10.1016/j.neulet.2009.03.015
6. Dennis AG, Almaguer-Mederos LE, Raúl RA, Roberto RL, Luis VP, Dany CA, et al. Redox Imbalance Associates with Clinical Worsening in Spinocerebellar Ataxia Type 2. Oxidative Med Cell Longev. 2021;2021:9. Available from: https://doi.org/10.1155/2021/9875639
7. Cuello-Almarales DA, Almaguer-Mederos LE, Vázquez-Mojena Y, Almaguer-Gotay D, Zayas-Feria P, Laffita-Mesa JM, et al. Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2. Arch Med Res. 2017;48(3):297-302. Available from: https://doi.org/10.1016/j.arcmed.2017.06.008
8. Velázquez-Pérez L, Rodríguez-Labrada R, Torres-Vega R, Ortega-Sánchez R, Medrano-Montero J, González-Piña R, et al. Progression of corticospinal tract dysfunction in pre-ataxic spinocerebellar ataxia type 2: A two-years follow-up TMS study. Clin Neurophysiol. 2018;129(5):895-900. Available from: https://doi.org/10.1016/j.clinph.2018.01.066
9. Velázquez-Pérez L, Rodriguez-Labrada R, González-Garcés Y, Arrufat-Pie E, Torres-Vega R, Medrano-Montero J, et al. Prodromal Spinocerebellar Ataxia Type 2 Subjects Have Quantifiable Gait and Postural Sway Deficits. Mov Disord. 2021;36(2):471-80. Available from: https://doi.org/10.1002/mds.28343
10. Rodriguez-Graña T, Rodríguez-Labrada R, Santana-Porbén S, Reynaldo-Cejas L, Medrano-Montero J, Canales-Ochoa N, et al. Weight loss is correlated with disease severity in Spinocerebellar ataxia type 2: a cross-sectional cohort study. Nutr Neurosci. 2022;25(8):1747-55. Available from: https://doi.org/10.1080/1028415x.2021.1895479
11. Rodríguez-Labrada R, Canales-Ochoa N, Galicia-Polo MD, Cruz-Rivas E, Romanzetti S, Pena-Acosta A, et al. Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype. Cerebellum. 2024:9. Available from: https://doi.org/10.1007/s12311-024-01674-1
12. Velázquez-Pérez L, Rodríguez-Labrada R, Laffita-Mesa JM. Prodromal Spinocerebellar Ataxia Type 2: Prospects for Early Interventions and Ethical Challenges. Mov Disord. 2017;32(5):708-18. Available from: https://doi.org/10.1002/mds.26969
13. Velázquez-Pérez L, Rodríguez-Labrada R, González-Garcés Y, Vázquez-Mojena Y, Pérez-Rodríguez R, Ziemann U. Neurophysiological features in spinocerebellar ataxia type 2: Prospects for novel biomarkers. Clin Neurophysiol. 2022;135:1-12. Available from: https://doi.org/10.1016/j.clinph.2021.12.005
14. Rodríguez-Díaz JC, Velázquez-Pérez L, Labrada RR, Rodríguez RA, Pérez DL, Ochoa NC, et al. Neurorehabilitation Therapy in Spinocerebellar Ataxia Type 2: A 24-Week, Rater-Blinded, Randomized, Controlled Trial. Mov Disord. 2018;33(9):1481-7. Available from: https://doi.org/10.1002/mds.27437
15. Rodríguez-Labrada R, Galicia-Polo L, Canales-Ochoa N, Voss U, Tuin I, Peña-Acosta 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;60:188-96. Available from: https://doi.org/10.1016/j.sleep.2019.04.005
16. Rodríguez-Labrada R, Batista-Izquierdo A, González-Melix Z, Reynado-Cejas L, Vázquez-Mojena Y, Sanz YA, et al. Cognitive Decline Is Closely Associated with Ataxia Severity in Spinocerebellar Ataxia Type 2: a Validation Study of the Schmahmann Syndrome Scale. Cerebellum. 2022;21(3):391-403. Available from: https://doi.org/10.1007/s12311-021-01305-z
17. Almaguer-Mederos LE, Jorge-Sainz Y, Almaguer-Gotay D, Aguilera-Rodríguez R, Rodríguez-Labrada R, Velázquez-Pérez L, et al. One-carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2. J Neurol Sci. 2020;409:6. Available from: https://doi.org/10.1016/j.jns.2019.116586
18. Vázquez-Mojena Y, Rodríguez-Labrada R, Córdova-Rodríguez Y, Domínguez-Barrios Y, Fernández-Herrera ME, León-Arcia K, et al. Serum S100β Levels Are Linked with Cognitive Decline and Peripheral Inflammation in Spinocerebellar Ataxia Type 2. Cerebellum. 2024;23(4):1509-20. Available from: https://doi.org/10.1007/s12311-024-01665-2
19. Rodriguez-Labrada R, Ortega-Sanchez R, Casaña PH, Morales OS, Padrón-Estupiñan MD, Batista-Nuñez M, et al. Erythropoietin in Spinocerebellar Ataxia Type 2: Feasibility and Proof-of-Principle Issues from a Randomized Controlled Study. Mov Disord. 2022;37(7):1516-25. Available from: https://doi.org/10.1002/mds.29045
20. Alvarez-Cuesta JA, Mora-Batista C, Reyes-Carreto R, Carrillo-Rodes FJ, Fitz SJT, González-Zaldivar Y, et al. On the Cut-Off Value of the Anteroposterior Diameter of the Midbrain Atrophy in Spinocerebellar Ataxia Type 2 Patients. Brain Sci. 2024;14(1):12. Available from: https://doi.org/10.3390/brainsci14010053
21. Cruz-Marino T, Laffita-Mesa JM, Gonzalez-Zaldivar Y, Velazquez-Santos M, Aguilera-Rodriguez R, Estupinan-Rodriguez A, et al. Large normal and intermediate alleles in the context of SCA2 prenatal diagnosis. J Genet Couns. 2014;23(1):89-96. Available from: https://doi.org/10.1007/s10897-013-9615-1
22. Cruz-Marino T, Vazquez-Mojena Y, Velazquez-Perez L, Gonzalez-Zaldivar Y, Aguilera-Rodriguez R, Velazquez-Santos M, et al. SCA2 predictive testing in Cuba: challenging concepts and protocol evolution. J Community Genet. 2015;6(3):265-73. Available from: https://doi.org/10.1007/s12687-015-0226-4
23. Stoean C, Stoean R, Atencia M, Abdar M, Velázquez-Pérez L, Khosravi A, et al. Automated Detection of Presymptomatic Conditions in Spinocerebellar Ataxia Type 2 Using Monte Carlo Dropout and Deep Neural Network Techniques with Electrooculogram Signals. Sensors. 2020;20(11):16. Available from: https://doi.org/10.3390/s20113032
24. Callon M, Courtial JP, Laville F. Co-word analysis as a tool for describing the network of interactions between basic and technological research: The case of polymer chemsitry. Scientometrics. 1991;22(1):155-205. Available from: https://doi.org/10.1007/bf02019280
25. van Eck NJ, Waltman L, editors. VOS: A New Method for Visualizing Similarities Between Objects2007; Berlin, Heidelberg: Springer Berlin Heidelberg.
26. Ball D, Harper PS, Tyler A, Tibben A, Vegtervandervlis M, Cassiman JJ, et al. Ethical and Social Issues in Presymptomatic Testing for Huntingtons-Disease - A European-Community Collaborative Study Group. J Med Genet. 1993;30(12):1028-35. Available from: https://doi.org/10.1136/jmg.30.12.1028
27. Sequeiros J. Protocolo geral do Programa Nacional de Teste Preditivo e Aconselhamento Gen´etico na Doenc¸a de Machado-Joseph. In: Sequeiros J, editor. Porto: UnIGene, IBMC; 1996. p. 123-49.
28. Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet. 1996;14(3):277-84. Available from: https://doi.org/10.1038/ng1196-277
29. Cruz-Marino T, Velazquez-Perez L, Gonzalez-Zaldivar Y, Aguilera-Rodriguez R, Velazquez-Santos M, Vazquez-Mojena Y, et al. The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from. Clin Genet. 2013;83(6):518-24. Available from: https://doi.org/10.1111/cge.12142
30. Paneque HM, Prieto AL, Reynaldo RR, Cruz MT, Santos FN, Almaguer ML, et al. Psychological aspects of presymptomatic diagnosis of spinocerebellar ataxia type 2 in Cuba. Community Genet. 2007;10(3):132-9. Available from: https://doi.org/10.1159/000101754
31. Paneque HM, Reynaldo AR, Velázquez-Pérez L, Santos FN, Miranda HE, Real PN, et al. Type 2 spinocerebellar ataxia: An experience in psychological rehabilitation. Rev Neurologia. 2001;33(11):1001-5. Available from: https://doi.org/10.33588/rn.3310.2001322
Descargas
Publicado
Cómo citar
Número
Sección
Licencia
Derechos de autor 2025 Luis Clodoaldo Velázquez-Pérez, Guillermo Armando Ronda-Pupo
Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial 4.0.
La revista Anales de la Academia de Ciencias de Cuba protege los derechos de autor, y opera con una Licencia Creative Commons 4.0 (Licencia Creative Commons Reconocimiento-NoComerciall 4.0). Al publicar en ella los autores permiten copiar, reproducir, distribuir, comunicar públicamente su obra y generar obras derivadas, siempre y cuando se cite y reconozca al autor original. No permiten, sin embargo, utilizar la obra original con fines comerciales ni lucrativos.
Los autores autorizan la publicación de sus escritos conservando los derechos de autoría, y cediendo y transfiriendo a la revista todos los derechos protegidos por las leyes de propiedad intelectual que rigen en Cuba, que implican la edición para difundir la obra.
Los autores podrán establecer acuerdos adicionales para la distribución no exclusiva de la versión de la obra publicada en la revista (por ejemplo, situarla en un repositorio institucional o publicarla en un libro), con el reconocimiento de haber sido publicada primero en esta revista.
Para conocer más, véase https://creativecommons.org
