Currently, the evaluation of cognitive disorders in Spinocerebellar Ataxia Type 2 is of great interest, given that the identification of its neuropsychological characteristics allows for a deeper understanding of the disease. However, its approach from the field of study of neuropsychology, based on the integration of the cognitive, affective and behavioral state, is insufficient. The objective of study is characterized from a neuropsychological point of view, a series of cases with Spinocerebellar Ataxia Type 2 in stage I. A multiple case study was carried out with four patients with diagnosis of Spinocerebellar Ataxia Type 2 in stage I genetically confirmed and intentionally chosen. Psychological and neurocognitive tests were applied to evaluate the cognitive, affective and behavioral spheres. Patients with SCA2 stage I presented cognitive impairment in the neuropsychological examination, only one of the subjects showed normal global cognitive functioning, although in the evaluation by specific domains he evidenced various cognitive deficits. Anxiety and depression at pathological levels were not identified in the patients. They showed satisfaction and self-actualization with their lifestyles. The neuropsychological characterization of the cases studied with SCA2 in stage I contributed to a greater understanding of the disease. The identified deficits speak in favor of carrying out a neuropsychological evaluation from the initial stages, to project more effective neuropsychological rehabilitation strategies, which is of interest to the scientific community in the field of Neurosciences.
Published in | International Journal of Neurologic Physical Therapy (Volume 10, Issue 1) |
DOI | 10.11648/j.ijnpt.20241001.11 |
Page(s) | 1-7 |
Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
Copyright |
Copyright © The Author(s), 2024. Published by Science Publishing Group |
Spinocerebellar Ataxia Type 2, Neuropsychology, Cognitive Impairment, Lifestyle
[1] | Alonso Álvarez, A. (2004). Main Alterations of Psychic Activity and Techniques for its Determination. University of Havana, Faculty of Psychology. |
[2] | Bolton, C. & Lacy, M. (2019). Comparison of cognitive profiles in spinocerebellar ataxia subtypes: a case series. Cerebellum & Ataxias, 6(13), 2-4. https://doi.org/10.1186/s40673-019-0107-4 |
[3] | Bürk, K.; Globas, C.; Bösch, S.; Klockgether, T.; Zühlke, C.; Daum, I. & Dichgans, J. (2003). Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3. J Neurol, 250, 207–211. https://doi.org/10.1007/s00415-003-0976-5 |
[4] | Caballero, A., Velázquez, L., & Pérez, A. (2021). Clinical-cognitive characterization of spinocerebellar ataxia type 2. Annals of the Cuban Academy of Sciences, 11(3), 243-254. |
[5] | Cruickshank, T., Bartlett, D., Govus, A., Hannan, A., Wei-Peng, T., Mason, S., Lo, J. & Ziman, M. (2020). The relationship between lifestyle and serum neurofilament light protein in Huntington’s disease. Brain and Behavior, 10(5), 1-7. https://doi.org/10.1002/brb3.1578 |
[6] | Fragoso-Benítez, M. & Rasmussen, A. (2002). Neuropsychological aspects of autosomal dominant spinocerebellar ataxias. Mental Health, 25(5): 40-49. |
[7] | González, Y., Vázquez, Y., Torres, R., & Rodríguez, R. (2020). Cerebellar ataxias and viral infections: clinical characterization and neuropathogenic mechanisms. Revista Cubana de Medicina Tropical, 72(1), e476. https://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0375-07602020000100009 |
[8] | Gonzalez, F. M. (2007). Psychological Assessment Instruments. Medical Sciences Editorial. |
[9] | Golden, C. J. (Eds.). (2020). STROOP Handbook. Color and Word Test. Madrid: TEA Editions. |
[10] | Kawai, Y., Suenaga, M., Watanabe, H. & Sobue, G. (2009). Cognitive Impairment in Spinocerebellar Degeneration. EurNeurol, 61, 257–268. https://doi.org/10.1159/000206850 |
[11] | Karamazovova, S., Matuskova, V., Ismail, Z. & Vyhnalek, M. (2023). Neuropsychiatric symptoms in spinocerebellar ataxias and Friedreich ataxia. Neuroscience and Biobehavioral Reviews 150. https://doi.org/10.1016/j.neubiorev.2023.105205 |
[12] | Lozano, M., Hernández-Ferrándiz, M., Turró-Garriga, O., Inmaculada, Nierga., López-Pousa, S., y Franch, J. (2009). Validacióndel Montreal Cognitive Assessment (MoCA). Alzheimer Real Invest Demenc, 43, 4-11. |
[13] | Le Pira, F., Zappala, G., Saponara, R. Domina, I., Restivo, D. A., Regio, E., Nicoletti, A., & Giuffrida, S. (2002). Cognitive findings in spinocerebellar ataxia type 2: relationship to genetic and clinical variables. Revista de CienciasNeurológicas, 201(1-2), 53–57. https://doi.org/10.1016/S0022-510X(02)00194-6 |
[14] | Lindsay, E. & Storey, E. (2017). Cognitive Changes in the Spinocerebellar Ataxias Due to Expanded Polyglutamine Tracts: A Survey of the Literature. Brain Sci, 7 (83), 2-20. https://doi.org/10.3390/brainsci7070083 |
[15] | Mastammanavar, V., Kamble, N., Yadav, R., Netravathi, M., Jain, S., Kumar, K. & Kumar, P. (2020) Non-motor Symptoms in Patients with Autosomal dominant Spinocerebellar Ataxia, REVISTA 142(4), 368-376. https://doi.org/10.1111/ane.13318 |
[16] | Magaña, J. J., Velázquez-Pérez, L. & Cisneros, B. (2012). Spinocerebellar Ataxia Type 2: Clinical Presentation, Molecular Mechanisms, and Therapeutic Perspectives. MolNeurobiol, 47(1), 90-104. https://doi.org/10.1007/s12035-012-8348-8 |
[17] | Mayo, I. (2021). Lifestyle and Personality: An Approach to the Personological Study of Lifestyle (1st ed.). Anabasis Editions. |
[18] | Mónaco, M., Costa, A., Caltagirone, C., & Carlesimo, G. A. (2012). Forwardand backward span for verbal and visuo-spatial data: Standardization and normative data from an Italian adult population. NeurolSci, 36(34), 749-754. https://doi10.1007/s10072-012-1130-x |
[19] | Mir-Caballero, G. (2008). Preliminary Validation of the Neuropsychological Assessment Battery in Patients with Cerebrovascular Disease [Bachelor's Thesis in Psychology Universidad de Oriente]. Institutional Repository. |
[20] | Olivito, G., Cercignani, M., Lupo, M., Iacobacci, C., Clausi, S., Romano, S., Masciullo, M., Molinari, M., Bozzali, M. & Leggio, M. (2017). Neural substrates of motor and cognitive dysfunctions in SCA2 patients: Anetwork based statistics analysis. NeuroImage: Clinical, 14, 719–725. http://dx.doi.org/10.1016/j.nicl.2017.03.009 |
[21] | Orsi, L., D'Agata, F., Caroppo, P., Franco, A., Caglio, M. M., Avidano, F., Manzone, C. & Mortara, P. (2011). Neuropsychological picture of 33 spinocerebellarataxia cases. Journal of Clinical and Experimental Neuropsychology, 33(3), 315-325. http://dx.doi.org/10.1080/13803395.2010.518139 |
[22] | Ojeda, M. (2015). Cognitive and neuropsychiatric manifestations of spinocerebellar ataxias at the National Institute of Neurology and Neurosurgery. Arch Neurocien, 20(3), 182-189. |
[23] | Olabarrieta-Landa, L., Rivera, D., Galarza-del-Ángel, J., Garza, M. T., Saracho, C. P., Rodríguez, W., Chávez-Oliveros, M., Rábago, B., Leibach, G., Schebela, S., Martínez, C., Luna, M., Longoni, M., Ocampo-Barba, N., Rodríguez, G., Aliaga, A., Esenarro, L. García de la Cadena, C., Perrin, P. B., yArango-Lasprilla, J. C. (2015). Pruebas de fluidez verbal: datosnormativospara la poblaciónadultalatinoamericana de hablahispana. NeuroRehabilitación, 37, 515–561. https://doi.org/10.3233/NRE-151279 |
[24] | Ostrosky, F., Gómez, E., Matute, E., Rosselli, M., Ardila, A., & Pineda, D. (2019). Neuropsi. Attention and Memory (3rd ed.). Modern Manual. |
[25] | Reyes Herrera, M. L., & Roja Guerra, Y. (2014). Preliminary normalization of the Holguín Neuropsychological Battery in supposedly healthy subjects. Holguín Municipality, 2013-2014 [Bachelor's Thesis in Psychology, mention in Health, University of Medical Sciences of Holguín]. Institutional Repository. |
[26] | Román Lapuente, F., Sánchez López, M. P. & Rabadán Pardo, M. J. (Ed.). (2010). Neuropsychology. European Higher Education Area. |
[27] | Stezin, A., Venkatesh, S. D., Thennarasu. K., Purushottam, M., Jain, S., Yadav, R. & Kumar Pal, P. (2018). Non-ataxic manifestations of Spinocerebellar ataxia-2, their determinants and predictors. Journal of the Neurological Sciences, 15(394), 14-18. https://doi.org/10.1016/j.jns.2018.08.024 |
[28] | Spires, T. L. & Hannan A. J. (2005). Nature, nurture and neurology: gene-environment interactions in neurodegenerative disease. The FEBS Journal, 272(10), 2347-2361. https://doi.org/10.1111/j.1742-4658.2005.04677.x |
[29] | Stern, Y. (2009). Cognitive reserve. Neuropsychologia, 47(10), 2015-208. https://doi.org/10.1016/j.neuropsychologia.2009.03.003 |
[30] | Sumowski, J. F., Wylie, G. R., & Deluca, J. (2010). Intellectual enrichment is linked to cerebral efficiency in multiple sclerosis: functional magnetic resonance imaging evidence for cognitive reserve. Brain, 133(2), 362-374. https://doi.org/10.1093/brain/awp307 |
[31] | Sanchez, L. (2011). Evaluation of executive functions in patients with stage spinocerebellar ataxia type 2. [Diploma Thesis, Eastern University]. |
[32] | Vaca-Palomares, I., Díaz, R., Rodríguez-Labrada, R., Medrano-Montero, Y., Aguilera-Rodríguez, R., Vázquez-Mojena, Y., Fernandez-Ruiz, J., & Velázquez-Pérez, L. (2015). Strategy Use, Planning, and Rule Acquisition Deficits in Spinocerebellar Ataxia Type 2 Patients. Journal of the International Neuropsychological Society, 21(3), 1-7. https://doi.org/10.1017/S1355617715000132 |
[33] | Velázquez, L., Medrano, J., Rodríguez, R., Canales, N., Campins, J., Carrillo, F. J., Rodríguez, T., Hernández, M. O., Gámez, O., Aguilera, R., Domínguez, Y., Torres, R., Flores, L., Cordero, N. Y., Sigler, A. A., Sagaró, I., Navas, N. Y., García, J., Serrano, O. R…. Leyva-Mérida, Y. (2020). Hereditary Ataxias in Cuba: A Nationwide Epidemiologicaland Clinical Study in 1001 Patients. Cerebellum, 19(2), 252-264. https://doi.org/10.1007/s12311-020-01107-9 |
[34] | Velázquez, L., Rodríguez, R., Medrano, J., Fernández, J., Vázquez, Y., Cruz, E. M., & Estupiñán, A. (2016). Description of the prodromal stage of spinocerebellar ataxia type 2: implications for early diagnosis, pathogenesis and therapies. Annals of the Cuban Academy of Sciences, 6(3). |
APA Style
Martinola, D. R. H., Alvarez, A. K. G., Fernández, Y. M., Reyes, M. G., Jover, M. V. G. (2024). Neuropsychology of Spinocerebellar Ataxia Type 2, a Case Study in Stage I Disease. International Journal of Neurologic Physical Therapy, 10(1), 1-7. https://doi.org/10.11648/j.ijnpt.20241001.11
ACS Style
Martinola, D. R. H.; Alvarez, A. K. G.; Fernández, Y. M.; Reyes, M. G.; Jover, M. V. G. Neuropsychology of Spinocerebellar Ataxia Type 2, a Case Study in Stage I Disease. Int. J. Neurol. Phys. Ther. 2024, 10(1), 1-7. doi: 10.11648/j.ijnpt.20241001.11
AMA Style
Martinola DRH, Alvarez AKG, Fernández YM, Reyes MG, Jover MVG. Neuropsychology of Spinocerebellar Ataxia Type 2, a Case Study in Stage I Disease. Int J Neurol Phys Ther. 2024;10(1):1-7. doi: 10.11648/j.ijnpt.20241001.11
@article{10.11648/j.ijnpt.20241001.11, author = {Diana Rosa Hidalgo Martinola and Ana Karina Gutiérrez Alvarez and Yarily Martínez Fernández and Mairelys Guillén Reyes and María Victoria González Jover}, title = {Neuropsychology of Spinocerebellar Ataxia Type 2, a Case Study in Stage I Disease}, journal = {International Journal of Neurologic Physical Therapy}, volume = {10}, number = {1}, pages = {1-7}, doi = {10.11648/j.ijnpt.20241001.11}, url = {https://doi.org/10.11648/j.ijnpt.20241001.11}, eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijnpt.20241001.11}, abstract = {Currently, the evaluation of cognitive disorders in Spinocerebellar Ataxia Type 2 is of great interest, given that the identification of its neuropsychological characteristics allows for a deeper understanding of the disease. However, its approach from the field of study of neuropsychology, based on the integration of the cognitive, affective and behavioral state, is insufficient. The objective of study is characterized from a neuropsychological point of view, a series of cases with Spinocerebellar Ataxia Type 2 in stage I. A multiple case study was carried out with four patients with diagnosis of Spinocerebellar Ataxia Type 2 in stage I genetically confirmed and intentionally chosen. Psychological and neurocognitive tests were applied to evaluate the cognitive, affective and behavioral spheres. Patients with SCA2 stage I presented cognitive impairment in the neuropsychological examination, only one of the subjects showed normal global cognitive functioning, although in the evaluation by specific domains he evidenced various cognitive deficits. Anxiety and depression at pathological levels were not identified in the patients. They showed satisfaction and self-actualization with their lifestyles. The neuropsychological characterization of the cases studied with SCA2 in stage I contributed to a greater understanding of the disease. The identified deficits speak in favor of carrying out a neuropsychological evaluation from the initial stages, to project more effective neuropsychological rehabilitation strategies, which is of interest to the scientific community in the field of Neurosciences. }, year = {2024} }
TY - JOUR T1 - Neuropsychology of Spinocerebellar Ataxia Type 2, a Case Study in Stage I Disease AU - Diana Rosa Hidalgo Martinola AU - Ana Karina Gutiérrez Alvarez AU - Yarily Martínez Fernández AU - Mairelys Guillén Reyes AU - María Victoria González Jover Y1 - 2024/03/07 PY - 2024 N1 - https://doi.org/10.11648/j.ijnpt.20241001.11 DO - 10.11648/j.ijnpt.20241001.11 T2 - International Journal of Neurologic Physical Therapy JF - International Journal of Neurologic Physical Therapy JO - International Journal of Neurologic Physical Therapy SP - 1 EP - 7 PB - Science Publishing Group SN - 2575-1778 UR - https://doi.org/10.11648/j.ijnpt.20241001.11 AB - Currently, the evaluation of cognitive disorders in Spinocerebellar Ataxia Type 2 is of great interest, given that the identification of its neuropsychological characteristics allows for a deeper understanding of the disease. However, its approach from the field of study of neuropsychology, based on the integration of the cognitive, affective and behavioral state, is insufficient. The objective of study is characterized from a neuropsychological point of view, a series of cases with Spinocerebellar Ataxia Type 2 in stage I. A multiple case study was carried out with four patients with diagnosis of Spinocerebellar Ataxia Type 2 in stage I genetically confirmed and intentionally chosen. Psychological and neurocognitive tests were applied to evaluate the cognitive, affective and behavioral spheres. Patients with SCA2 stage I presented cognitive impairment in the neuropsychological examination, only one of the subjects showed normal global cognitive functioning, although in the evaluation by specific domains he evidenced various cognitive deficits. Anxiety and depression at pathological levels were not identified in the patients. They showed satisfaction and self-actualization with their lifestyles. The neuropsychological characterization of the cases studied with SCA2 in stage I contributed to a greater understanding of the disease. The identified deficits speak in favor of carrying out a neuropsychological evaluation from the initial stages, to project more effective neuropsychological rehabilitation strategies, which is of interest to the scientific community in the field of Neurosciences. VL - 10 IS - 1 ER -