Spinocerebellar ataxia type 6 (SCA6), an autosomal dominant triplet repeat disease, predominantly affects the cerebellum with a late onset and generally good prognosis. Dysphagia is commonly associated with the outcomes of neurodegenerative diseases such as SCA6. Although the characteristics of dysphagia have been rarely reported in SCA6, our previous study indicated that dysphagia is generally milder in SCA6 than in SCA3, another inherited ataxia with multisystem involvement. However, abnormalities in the pharyngeal phase in SCA6 were indistinguishable from those in SCA3, with no explainable reason. To determine the reason, we repeatedly performed videofluoroscopic examinations (VF) in 14 patients with SCA6. The results showed that the gross progression of dysphagia was apparently slow, but four patients had progressive dysphagia at an early disease stage; dysphagia began within 10 years from the onset of ataxia and rapidly progressed. A common clinical feature of the four patients was a significantly older age at the onset of ataxia (74.0 vs. 60.3 years), associated with significantly shorter triplet repeats. This finding surprisingly indicated that patients who had shorter repeats and thereby later onset and potentially better prognoses were at risk for dysphagia-associated problems. Ischemic changes, homozygous mutation, and diabetes mellitus as well as aging might have contributed to the observed progressive dysphagia. We found that conventionally monitored somatosensory evoked potentials at least partly reflected progressive dysphagia. Despite the small study group, our findings suggest that clinicians should carefully monitor dysphagia in patients with SCA6 who are older at disease onset (>60 years).
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Relations between the total scores of dysphagia and the scores of activities of daily living according to the Barthel index score. Open circles, patients with late onset of dysphagia; crosses, patients with progressive dysphagia at an early stage of disease. (A) The total scores did not correlate with the Barthel index scores in the patients with SCA6 enrolled in this study. (B) The total scores and Barthel index scores were significantly related in patients with later onset of dysphagia. (C) The total scores did not correlate with the Barthel index scores in patients with progressive dysphagia at an early stage of disease. Supplementary material 2 (TIFF 9576 kb)
The amplitudes of N20 elicited by the right median nerve stimulation. The difference did not reach statistical significance (N.S.) between patients with late-onset dysphagia (Late) and those with progressive dysphagia at an early disease stage (Early). Symbols are the same as those used in Fig. 1. Supplementary material 3 (TIFF 10072 kb)
Auditory evoked potentials on left ear stimulation. The difference did not reach statistical significance (N.S.) between the patients with late-onset dysphagia (Late) and those with progressive dysphagia at an early disease stage (Early). Symbols are the same as those used in Fig. 1. Supplementary material 4 (TIFF 14032 kb)
VF results in a 74-year-old man who had SCA6 with progressive dysphagia at an early disease stage (Patient 4). The first video at age 70 shows moderate dysphagia, and the second shows dysphagia progression after 4 years. The patient’s evaluations are summarized in Supplemental Fig. 1. Supplementary material 5 (MP4 1882 kb)
VF results in a 74-year-old man who had SCA6 with progressive dysphagia at an early disease stage (Patient 4). The first video at age 70 shows moderate dysphagia, and the second shows dysphagia progression after 4 years. The patient’s evaluations are summarized in Supplemental Fig. 1. Supplementary material 6 (MP4 2965 kb)
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Isono, C., Hirano, M., Sakamoto, H. et al. Progression of Dysphagia in Spinocerebellar Ataxia Type 6. Dysphagia 32, 420–426 (2017). https://doi.org/10.1007/s00455-016-9771-1
- VF evaluation