Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6

Chen Ya Yang, Ruo Yah Lai, Nadia Amokrane, Chi Ying Lin, Karla P. Figueroa, Stefan M. Pulst, Susan Perlman, George Wilmot, Christopher M. Gomez, Jeremy D. Schmahmann, Henry Paulson, Vikram G. Shakkottai, Liana S. Rosenthal, Sarah H. Ying, Theresa Zesiewicz, Khalaf Bushara, Michael Geschwind, Guangbin Xia, S. H. Subramony, Tetsuo AshizawaMichelle S. Troche, Sheng Han Kuo

Research output: Contribution to journalArticle

Abstract

Background: Dysphagia is a common symptom and may be a cause of death in patients with spinocerebellar ataxias (SCAs). However, little is known about at which disease stage dysphagia becomes clinically relevant. Therefore, our study aims to investigate the prevalence of dysphagia in different disease stages of SCA 1, 2, 3 and 6. Methods: We studied 237 genetically confirmed patients with SCA 1, 2, 3, 6 from the Clinical Research Consortium for SCAs and investigated the prevalence of self-reported dysphagia and the association between dysphagia and other clinical characteristics. We further stratified ataxia severity and studied the prevalence of dysphagia at each disease stage. Results: Dysphagia was present in 59.9% of SCA patients. Patients with dysphagia had a longer disease duration and more severe ataxia than patients without dysphagia (patients with dysphagia vs. without dysphagia, disease duration (years): 14.51 ± 8.91 vs. 11.22 ± 7.82, p = .001, scale for the assessment and rating of ataxia [SARA]: 17.90 ± 7.74 vs. 13.04 ± 7.51, p = .000). Dysphagia was most common in SCA1, followed by SCA3, SCA 6, and SCA 2. Dysphagia in SCA1 and 3 was associated robustly with ataxia severity, whereas this association was less obvious in SCA2 and 6, demonstrating genotype-specific clinical variation. Conclusion: Dysphagia is a common clinical symptom in SCAs, especially in the severe disease stage. Understanding dysphagia in SCA patients can improve the care of these patients and advance knowledge on the roles of the cerebellum and brainstem control in swallowing.

Original languageEnglish (US)
Article number116878
JournalJournal of the Neurological Sciences
Volume415
DOIs
StatePublished - Aug 15 2020

Keywords

  • Aspiration
  • Deglutition
  • Neurodegenerative disease
  • Spinocerebellar ataxia

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Yang, C. Y., Lai, R. Y., Amokrane, N., Lin, C. Y., Figueroa, K. P., Pulst, S. M., Perlman, S., Wilmot, G., Gomez, C. M., Schmahmann, J. D., Paulson, H., Shakkottai, V. G., Rosenthal, L. S., Ying, S. H., Zesiewicz, T., Bushara, K., Geschwind, M., Xia, G., Subramony, S. H., ... Kuo, S. H. (2020). Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6. Journal of the Neurological Sciences, 415, [116878]. https://doi.org/10.1016/j.jns.2020.116878