Seizures in patients with spinocerebellar ataxias: insights from a specialized institute in Peru
DOI:
https://doi.org/10.20453/rnp.v89i1.6332Keywords:
seizures, ataxia, spinocerebellar ataxia, SCA10, SCAAbstract
Objective: To compare the frequency of seizures between patients with SCA10 and other SCA in a sample of the Peruvian population. Materials and methods: Observational study with a retrospective component through medical record review and a prospective component with interviews after prior informed consent. Patients with a genetic diagnosis of SCA attended between January 2014 and December 2023 in a national referral center in Peru were recruited. Results: We identified 125 cases from 87 families diagnosed with six types of SCA (SCA1, SCA2, MJD/SCA3, SCA6, SCA7 and SCA10), with an overall seizure frequency of 11.2%. Seizures predominated in the SCA10 subgroup (16%), contrasting with the other SCA subgroup (4%), which had only two cases of seizures in SCA2. Conclusions: Seizures are significantly more frequent in SCA10 compared to other SCA subgroup in the studied population. Tonic-clonic of unknown onset seizures are common in SCA10, while focal onset motor seizures were described in SCA2, most of them with good response with antiseizure medications.
Downloads
References
Fisher RS, Cross JH, French JA, et al. Operational classification of seizure types by the International League Against Epilepsy: position paper of the ILAE commission for classification and terminology. Epilepsia. 2017;58(4):522-30. doi:10.1111/epi.13670
Vercueil L. Epilepsy and neurodegenerative diseases in adults: a clinical review. Epileptic Disord. 2006;8(S1):S44-54. doi:10.1684/j.1950-6945.2006.tb00199.x
Sullivan R, Yau WY, O’Connor E, et al. Spinocerebellar ataxia: an update. J Neurol. 2019;266:533-44. doi:10.1007/s00415-018-9076-4
Van de Warrenburg BP, van Gaalen J, Boesch S, et al. EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. Eur J Neurol. 2014;21(4):552-62. doi:10.1111/ene.12341
Ruano L, Melo C, Silva MC, et al. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014;42(3):174-83. doi:10.1159/000358801
Teive HA, Meira AT, Camargo CH, et al. The geographic diversity of spinocerebellar ataxias (SCAs) in the Americas: a systematic review. Mov Disord Clin Pract. 2019;6(7):531-40. doi:10.1002/mdc3.12822
Cornejo-Olivas M, Inca-Martinez M, Castilhos RM, et al. Genetic analysis of hereditary ataxias in Peru identifies SCA10 families with incomplete penetrance. Cerebellum. 2020;19(2):208-15. doi:10.1007/s12311-019-01098-2
Rasmussen A, Matsuura T, Ruano L, et al. Clinical and genetic analysis of 4 Mexican families with spinocerebellar ataxia type 10. Ann Neurol. 2001;50(2):234-9. doi:10.1002/ana.1081
Teive HA, Munhoz RP, Raskin S, et al. Spinocerebellar ataxia type 10: frequency of epilepsy in a large sample of Brazilian patients. Mov Disord. 2010;25(16):2875-8. doi:10.1002/mds.23324
De Castilhos RM, Furtado GV, Gheno TC, et al. Spinocerebellar ataxias in Brazil-frequencies and modulating effects of related genes. Cerebellum. 2014;13(1):17-28. doi:10.1007/s12311-013-0510-y
Tan NC, Zhou Y, Tan AS, et al. Spinocerebellar ataxia type 2 with focal epilepsy-an unusual association. Ann Acad Med Singap [Internet]. 2004;33(1):103-6. Disponible en: https://www.annals.edu.sg/pdf200401/V33N1p103.pdf
Le Roux M, Barth M, Gueden S, et al. CACNA1A-associated epilepsy: electroclinical findings and treatment response on seizures in 18 patients. Eur J Paediatr Neurol. 2021;33:75-85. doi:10.1016/j.ejpn.2021.05.010
Swaminathan A. Epilepsy in spinocerebellar ataxia type 8: a case report. J Med Case Reports. 2019;13:333. doi:10.1186/s13256-019-2270-x
Bürk K, Strzelczyk A, Reif PS, et al. Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13). Int J Neurosci. 2013;123(4):278-82. doi:10.3109/00207454.2012.755180
De Michele G, Maltecca F, Carella M, et al. Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17. Neurol Sci. 2003;24:166-7. doi:10.1007/s10072-003-0112-4
De Souza PV, Batistella GN, Pinto WB, et al. Teaching NeuroImages: Leukodystrophy and progressive myoclonic epilepsy disclosing DRPLA. Neurology. 2016;86(6):e58-9. doi:10.1212/wnl.0000000000002356
Mazzetti P, Inca-Martínez M, Tirado-Hurtado I, et al. Neurogenética en el Perú, ejemplo de investigación traslacional. Rev Peru Med Exp Salud Pública. 2015;32(4):787-93. doi:10.17843/rpmesp.2015.324.1773
Cornejo-Olivas M, Espinoza-Huertas K, Velit-Salazar MR, et al. Neurogenetics in Peru: clinical, scientific and ethical perspectives. J Community Genet. 2015;6:251-7. doi:10.1007/s12687-015-0239-z
Schmitz-Hübsch T, du Montcel ST, Baliko L, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66(11):1717-20. doi:10.1212/01.wnl.0000219042.60538.92
Kieling C, Rieder CR, Silva AC, et al. A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3). Eur J Neurol. 2008;15(4):371-6. doi:10.1111/j.1468-1331.2008.02078.x
Galecio-Castillo M, Gutierrez-Arratia J, Abad-Murillo A, et al. Epidemiology of autosomal dominant spinocerebellar ataxias in Latin America: a systematic review and meta-analysis. Cerebellum. 2025;24(3):75. doi:10.1007/s12311-025-01826-x
Bushara K, Bower M, Liu J, et al. Expansion of the spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry. PLoS ONE. 2013;8(11):e81342. doi:10.1371/journal.pone.0081342
Wang K, McFarland KN, Liu J, et al. Spinocerebellar ataxia type 10 in Chinese Han. Neurol Genet. 2015;1(3):e26. doi:10.1212/NXG.0000000000000026
Naito H, Takahashi T, Kamada M, et al. First report of a Japanese family with spinocerebellar ataxia type 10: the second report from Asia after a report from China. PLoS ONE. 2017;12(5):e0177955. doi:10.1371/journal.pone.0177955
Fujigasaki H, Tardieu S, Camuzat A, et al. Spinocerebellar ataxia type 10 in the French population. Ann Neurol. 2002;51(3):408. doi:10.1002/ana.10126
Sułek-Piątkowska A, Zdzienicka E, Rakowicz M, et al. The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients. Neurol Neurochir Pol. 2010;44(3):238-45. doi:10.1016/S0028-3843(14)60037-2
Teive HA, Munhoz RP, Arruda WO, et al. Spinocerebellar ataxia type 10: a review. Parkinsonism Relat Disord. 2011;17(9):655-61. doi:10.1016/j.parkreldis.2011.04.001
Velázquez L, Sánchez G, Santos N, et al. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin. Neurosci Lett. 2009;454(2):157-60. doi:10.1016/j.neulet.2009.03.015
Rodríguez-Quiroga SA, Cordoba M, González-Morón D, et al. Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic. Genet Res. 2015;97:e10. doi:10.1017/s0016672315000087
Magaña JJ, Tapia‐Guerrero YS, Velázquez‐Pérez L, et al. Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect. Clin Genet. 2014;85(2):159-65. doi:10.1111/cge.12114
Figueroa-Ildefonso E, Milla-Neyra K, Inca-Martinez M, et al. Spinocerebellar ataxia type 2: the second most frequent dominant ataxia in Peru. Neurology. 2018;90(Suppl 15):P1.076. doi:10.1212/WNL.90.15_supplement.P1.076
Harris DN, Song W, Shetty AC, et al. Evolutionary genomic dynamics of Peruvians before, during, and after the Inca Empire. Proc Natl Acad Sci USA. 2018;115(28):E6526-35. doi:10.1073/pnas.1720798115
Cornejo-Olivas M, Solis-Ponce L, Araujo-Aliaga I, et al. Machado Joseph-disease is rare in the Peruvian population. Cerebellum. 2023;22(6):1192-9. doi:10.1007/s12311-022-01491-4
Friedman JE. Anticipation in hereditary disease: the history of a biomedical concept. Hum Genet. 2011;130(6):705-14. doi:10.1007/s00439-011-1022-9
Rossi M, Perez-Lloret S, Doldan L, et al. Autosomal dominant cerebellar ataxias: a systematic review of clinical features. Eur J Neurol. 2014;21(4):607-15. doi:10.1111/ene.12350
Linnemann C, Tezenas du Montcel S, Rakowicz M, et al. Peripheral neuropathy in spinocerebellar ataxia type 1, 2, 3, and 6. Cerebellum. 2016;15(2):165-73. doi:10.1007/s12311-015-0684-6
Teive HA, Arruda WO. Cognitive dysfunction in spinocerebellar ataxias. Dement Neuropsychol. 2009;3(3):180-7. doi:10.1590/S1980-57642009DN30300002
Schöls L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004;3(5):291-304. doi:10.1016/s1474-4422(04)00737-9
McFarland KN, Liu J, Landrian I, et al. Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics. 2014;15(1):59-64. doi:10.1007/s10048-013-0385-6
McFarland KN, Liu J, Landrian I, et al. Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. Eur J Hum Genet. 2013;21(11):1272-6. doi:10.1038/ejhg.2013.32
Gheno TC, Furtado GV, Saute JA, et al. Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil. Eur J Neurol. 2017;24(7):892-901. e36. doi:10.1111/ene.13281
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2026 Alonso Abad, Ana Saldarriaga-Mayo, Ismael Araujo-Aliaga, Andrea Rivera-Valdivia, Elison Sarapura-Castro, Mario Cornejo-Olivas

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.















RNP is distributed under a