The profile of bladder and bowel complaints in patients with heredodegenerative Spinocerebellar Ataxia

Uchiyama T1, Ribeiro J2, Giunti P3, Georgopoulos P4, Pakzad M H4, Yamanishi T5, Sakakibara R6, Kuwabara S7, Hirata K8, Panicker J N4

Research Type

Clinical

Abstract Category

Neurourology

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Abstract 38
Neurogenic Bladder
Scientific Podium Short Oral Session 4
Wednesday 29th August 2018
11:22 - 11:30
Hall A
Overactive Bladder Bowel Evacuation Dysfunction Neuropathies: Central
1. Department of Uro-Neurology, University College London (UCL) Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neurology, School of Medicine, International University of Health and Welfare/ International University of Health and Welfare Ichikawa Hospital, Chiba, Japan; Neuro-urology and Continence Center, Dokkyo Medical University, Tochigi, Japan, 2. Department of Uro-Neurology, University College London (UCL) Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Ataxia Centre, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology and The National Hospital for Neurology and Neurosurgery; Neurology Department, Coimbra's University and Hospital Center, Coimbra, Portugal, 3. Ataxia Centre, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom, 4. Department of Uro-Neurology, University College London (UCL) Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom, 5. Neuro-urology and Continence Center, Dokkyo Medical University, Tochigi, Japan, 6. Neurology Division, Department of Internal Medicine, Sakura Medical Center, Toho University, Chiba, Japan, 7. Department of Neurology, Chiba University Graduate School of Medicine, Chiba, Japan, 8. Department of Neurology, Dokkyo Medical University, Tochigi, Japan
Presenter
T

Tomoyuki Uchiyama
Department of Uro-Neurology, University College London (UCL) Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neurology, School of Medicine, International University of Health and Welfare/ International University of Health and Welfare Ichikawa Hospital, Chiba, Japan; Neuro-urology and Continence Center, Dokkyo Medical University, Tochigi, Japan
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Abstract

Hypothesis / aims of study 
Spinocerebellar ataxia (SCA) is a group of genetic neurodegenerative conditions characterized by cerebellar ataxia and variable neurological signs that result in progressive motor disability and wheelchair dependence. Pathological changes affect regions of the brain responsible for motor control such as the cerebellum, brainstem, spinal cord and peripheral nerves. There are many different sub-types of SCAs according to the genetic mutation, and SCA1, 2, 3, 6 and 7 are most common, though the prevalence of each type varies country-wise. 
Preliminary reports suggest that lower urinary tract (LUT) dysfunction may occur in SCAs. LUT dysfunction is likely to be a result of neurological damage. Bowel symptoms have been anecdotally reported in all SCAs, although it is thought that those symptoms may be not rare in SCAs.
LUT symptoms increases the risk for falls and fractures in this vulnerable cohort of neurological patients, and the aim of this study was to prospectively characterize LUT and bowel symptoms in a large cohort of patients with SCA.
Study design, materials and methods 
Consecutive patients with genetically confirmed SCA and attending a dedicated tertiary-level academic Ataxia Centre were prospectively approached over the period of 2012-2018. Fifty-one patients with SCAs were included in this Service Evaluation registered with the Divisional governance board. Subjects were evaluated using scales for the assessment and rating of ataxia (SARA), LUT symptom questionnaires- Urinary Symptom Profile (USP), IPSS, SF-Qualiveen questionnaire, and bowel dysfunction- neurogenic bowel dysfunction (NBD) questionnaire.
Results 
The numbers of patients with SCA1 are 4, SCA2 are 11, SCA3 are 13, SCA6 are 17, and SCA7 are 6. Average SARA in all patients is 13.75 (SD 7.937); SCA1: 10.88 (SD 10.71), SCA2: 11.41 (SD 5.732), SCA3: 17.04 (SD 8.902), SCA6: 12.79 (SD 10.71), SCA7: 15.9 (SD 4.317). Average stress urinary incontinence score of USP in all patients is 2.784 (SD 13.855); SCA1: 0.500 (SD 1.000), SCA2: 0.091 (SD 0.032), SCA3: 8.692 (SD 27.17), SCA6: 1.235 (SD 2.658), SCA7: 0.833 (SD 0.983). OAB symptoms are reported in 21 (41.2%) of all patients. Average OAB score of USP in all patients is 6.633 (SD 14.05); SCA1: 5.500 (SD 1.915), SCA2: 2.400 (SD 2.875), SCA3: 13.54 (SD 26.123), SCA6: 4.824 (SD 3.972), SCA7: 4.667 (SD 3.724). Average low stream score of USP in all patients is 1.060 (SD 1.834); SCA1: 2.250 (SD 2.630), SCA2: 1.000 (SD 1.483), SCA3: 1.538 (SD 2.727), SCA6: 0.412 (SD 0.795), SCA7: 1.167 (SD 1.169). Average IPSS in all patients is 9.600 (SD 18.94); SCA1: 8.500 (SD 3.786), SCA2: 4.909 (SD 6.204), SCA3: 13.92 (SD 25.85), SCA6: 4.941 (SD 3.132), SCA7: 21.67 (SD 38.17). Average SF-Qualiveen overall score in all patients is 3.049 (SD 14.22); SCA1: 3.031 (SD 3.659), SCA2: 0.450 (SD 0.872), SCA3: 8.933 (SD 27.087), SCA6: 0.703 (SD 0.801), SCA7: 1.104 (SD 1.288). Average NBD total score in all patients is 0.878 (SD 1.666); SCA1: 0.750 (SD 1.500), SCA2: 0.600 (SD 1.265), SCA3: 1.385 (SD 2.256), SCA6: 0.588 (SD 1.460), SCA7: 1.000 (SD 1.549). Average general satisfaction with bowel management in all patients is 8.641 (SD 2.006); SCA1: 7.667 (SD 1.528), SCA2: 9.000 (SD 2.646), SCA3: 8.222 (SD 2.539), SCA6: 8.714 (SD 1.541), SCA7: 9.400 (SD 0.894).
Interpretation of results 
Interpretation of results
LUT symptoms are prevalent in patients with genetically confirmed SCAs. OAB symptoms are reported in nearly half of all patients. LUT symptoms across different SCAs differ significantly. The prevalence of stress urinary incontinence was particularly high in patients with SCA3 and may be due to neurogenic pelvic floor denervation. A low stream score across different groups suggest that voiding dysfunction is relatively minor problem. A low average NBD total score suggests that bowel dysfunction is mild.
Concluding message 
OAB symptoms are commonly reported across different subtypes of SCAs, associated with significant impact on quality of life. Stress incontinence is particularly common in SCA3 compared to other SCAs. Bowel dysfunction is uncommonly reported.
Disclosures
Funding No funding or grant Clinical Trial No Subjects Human Ethics Committee University College London Helsinki Yes Informed Consent Yes
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