Abstract
Urinary dysfunctions are not considered symptoms of spinocerebellar ataxias (SCAs). However, given that a patient with SCAs without a family history might be misdiagnosed as MSA-C when having urinary dysfunctions, characterization of urinary dysfunctions in SCAs is needed not only to understand SCAs but also to correctly diagnosis patients with ataxia. We retrospectively reviewed medical records of 143 patients with genetically confirmed SCA1, 2, 3, 6, 7, 17, and DRPLA. Twenty-two patients (men n = 9; age 62.1 ± 10.9; disease duration 8.2 ± 2.9 years) who had lower urinary track symptoms (LUTS) were included in this study. Six patients underwent urodynamic study (UDS), and 2 underwent uroflowmetry. LUTS was present in 1 of 11 patients with SCA1, in 4 of 51 with SCA2, in 2 of 26 with SCA3, in 3 of 20 with SCA6, in 2 of 4 with SCA7, in 8 of 26 with SCA17, and in 2 of 5 with DRPLA. Overall, urinary frequency was the most common symptom (16 patients, 72.7%) followed by voiding difficulty. In three of the 6 patients with UDS, post-micturition residuals were > 100 ml. Detrusor overactivity was noted in three patients. Detrusor areflexia was observed in one. Four patients were diagnosed with a neurogenic bladder, 3 with a storage problem, and 1 with both storage and voiding problems. Fifteen percent of the patients with SCAs had LUTS, and LUTS occurred in various types of SCAs. Our results indicate that SCAs should be considered in patients with progressive cerebellar ataxia and urinary dysfunctions.
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MHJ and HJK conceived and organized the research project. MHJ, HJK, and BJ collected the data. MHJ, HJK, ARK, and BSJ analyzed the data. MHJ and HJK wrote the draft of the manuscript. ARK and BSJ made critiques for the draft. Finally, all authors approved the final version of the manuscript.
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All patients provided written informed consent according to the Declaration of Helsinki. The objectives and procedures of the study were approved by the institutional review board (Seoul National University Hospital: reference number C-1712-142-909).
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Jang, M., Kim, HJ., Kim, A. et al. Urinary Symptoms and Urodynamic Findings in Patients with Spinocerebellar Ataxia. Cerebellum 19, 483–486 (2020). https://doi.org/10.1007/s12311-020-01126-6
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DOI: https://doi.org/10.1007/s12311-020-01126-6