Seizures in patients with spinocerebellar ataxias: insights from a specialized institute in Peru

Authors

  • Alonso Abad Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. https://orcid.org/0000-0001-8552-8792
  • Ana Saldarriaga-Mayo Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. / Instituto Nacional de Ciencias Neurológicas, Neurogenetics Research Center. Lima, Perú. https://orcid.org/0000-0002-1150-6715
  • Ismael Araujo-Aliaga Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. / Instituto Nacional de Ciencias Neurológicas, Neurogenetics Research Center. Lima, Perú. https://orcid.org/0000-0002-8661-9351
  • Andrea Rivera-Valdivia Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. / Instituto Nacional de Ciencias Neurológicas, Neurogenetics Research Center. Lima, Perú.
  • Elison Sarapura-Castro Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. / Instituto Nacional de Ciencias Neurológicas, Neurogenetics Research Center. Lima, Perú. https://orcid.org/0000-0002-1562-3062
  • Mario Cornejo-Olivas Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. / Instituto Nacional de Ciencias Neurológicas, Neurogenetics Research Center. Lima, Perú. https://orcid.org/0000-0001-6313-5680

DOI:

https://doi.org/10.20453/rnp.v89i1.6332

Keywords:

seizures, ataxia, spinocerebellar ataxia, SCA10, SCA

Abstract

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

Download data is not yet available.

Author Biographies

Alonso Abad, Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú.

Estudiante de medicina

 

Ana Saldarriaga-Mayo, Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. / Instituto Nacional de Ciencias Neurológicas, Neurogenetics Research Center. Lima, Perú.

Bachiller en genética y biotecnología

Ismael Araujo-Aliaga, Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. / Instituto Nacional de Ciencias Neurológicas, Neurogenetics Research Center. Lima, Perú.

Biólogo genetista

Andrea Rivera-Valdivia, Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. / Instituto Nacional de Ciencias Neurológicas, Neurogenetics Research Center. Lima, Perú.

Médico neurólogo

Elison Sarapura-Castro, Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. / Instituto Nacional de Ciencias Neurológicas, Neurogenetics Research Center. Lima, Perú.

Médico neurólogo

Mario Cornejo-Olivas, Universidad Científica del Sur, Neurogenetics Working Group. Lima, Perú. / Instituto Nacional de Ciencias Neurológicas, Neurogenetics Research Center. Lima, Perú.

Médico neurólogo

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

Published

2026-04-20

How to Cite

1.
Abad A, Saldarriaga-Mayo A, Araujo-Aliaga I, Rivera-Valdivia A, Sarapura-Castro E, Cornejo-Olivas M. Seizures in patients with spinocerebellar ataxias: insights from a specialized institute in Peru. Rev Neuropsiquiatr [Internet]. 2026 Apr. 20 [cited 2026 Apr. 23];89(2):107-15. Available from: https://revistas.upch.edu.pe/index.php/RNP/article/view/6332

Issue

Section

ORIGINAL ARTICLE

Most read articles by the same author(s)

1 2 > >>