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

• Type of Material: Article
• Authors: Chen-Ya Yang, Columbia University; Ruo-Yah Lai, Columbia University; Nadia Amokrane, Columbia University; Chi-Ying Lin, Vagelos College of Physicians and Surgeons; Karla P Figueroa, The University of Utah; Stefan M Pulst, The University of Utah; Susan Perlman, University of California, Los Angeles; George Wilmot, Emory University; Christopher M Gomez, The University of Chicago; Jeremy D Schmahmann, Harvard Medical School; Henry Paulson, University of Michigan, Ann Arbor; Vikram G Shakkottai, University of Michigan, Ann Arbor; Liana S Rosenthal, Johns Hopkins University; Sarah H Ying, Johns Hopkins University; Theresa Zesiewicz, University of South Florida, Tampa; Khalaf Bushara, University of Minnesota Twin Cities; Michael Geschwind, University of California, San Francisco; Guangbin Xia, The University of New Mexico; SH Subramony, University of Florida; Tetsuo Ashizawa, Houston Methodist; Michelle S Troche, Columbia University; Sheng-Han Kuo, Columbia University
• Language: English
• Date: 2020-08-15
• Publisher: Elsevier Inc.
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2020 Published by Elsevier B.V.
• License: Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1016/j.jns.2020.116878
• Title of Journal or Parent Work: Journal of the Neurological Sciences
• Volume: 415
• Start Page: 116878
• End Page: 116878
• Keywords: Aspiration; Spinocerebellar Ataxias; Humans; Deglutition; Brain Stem; Neurodegenerative disease; Deglutition Disorders; Spinocerebellar ataxia

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.