Objective: To investigate the lower urinary tract symptoms (LUTS) and findings of the urodynamic study (UDS) in patients with spinocerebellar ataxia (SCA) and dentatorubral pallidoluysian atrophy (DRPLA).

Background: SCA shares cerebellar symptoms with MSA-C, patients with SCA without family history misdiagnosed as MSA-C when having autonomic dysfunction including orthostatic hypotension or urinary dysfunction. However, only a few studies have been done on LUTS, in patients with SCA and most. Published studies have focused on a single or a small number of specific subtypes.

Methods: We retrospectively reviewed the medical records of 143 patients with genetically confirmed SCA including SCA 1, 2, 3, 6, 7, 17 and DRPLA. Among the 143 patients, the number of patients with SCA 1, 2, 3, 6, 7, 17 and DRPLA was 11, 51, 26, 20, 4, 26 and 5, respectively. 22 (9 men and 13 women) who had LUTS were included in this study. Ten of these 22 patients also visited urology or gynecology clinic, of which 6 patients UDS and 2 patients underwent only uroflowmetry (UFM). Results are presented in a descriptive manner.

Results: The mean age of the 22 patients was 62.1 (±10.9) years. The mean disease duration of SCA was 8.2 (±2.9) years. LUTS was present in 1 (9.0%) out of 11 patients with SCA 1, 4 (7.8%) out of 51 SCA2, 2 (7.7%) out of 26 SCA3, 3 (15.0%) out of 20 SCA6, 2 (50.0%) out of 4 SCA7, 8 (30.7%) out of 26 SCA17 and 2 (40.0%) out of 5 DRPLA. Among the 6 patients who underwent UDS, SCA2 was 2 patients, SCA6 was 2, and SCA 17 was 2. The duration from onset of SCA to the UDS performance was 5.8 (±2.9) years. In 3 (50%) patients, post-micturition residuals was >100 ml. Detrusor overactivity was noted in 3 (75.0%). Detrusor areflexia was observed in 1 (25.0%). Neurogenic MUP in the sphincter EMG was not seen in any patients. According to the results of UDS, 4 of these 6 patients were diagnosed with a neurogenic bladder, 3 with the storage problem, and 1 with both storage and voiding problem.

Conclusions: In this study, 22 (15.1%) out of 143 patients with genetically confirmed SCA had LUTS, and SCA 2 and 3 had less frequency than previous studies. There is no previous report in SCA7 with LUTS, but interestingly, this study showed that LUTS were the most frequency in SCA 7. However, since 75% of SCA patients diagnosed with neurogenic bladder had the storage problem in UDS like MSA, it is difficult to distinguish between MSA and SCA by clinical findings and UDS alone.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/urinary-symptoms-and-urodynamic-findings-in-patients-with-scas-and-drpla/