Abstract
Friedrich’s ataxia is an early onset hereditary condition that causes progressive neurologic decline. Common urologic symptoms include urinary frequency, urgency, and incontinence. Elevated post-void residuals are also not uncommon. Urodynamic testing may demonstrate detrusor overactivity and detrusor sphincter dyssynergia but usually the bladder compliance is normal. Urologic treatment goals revolve around emptying the bladder completely via intermittent catheterization or indwelling catheter and managing overactive bladder symptoms with medications or onabotulinum injections. Friedrich’s ataxia patients have a potentially high risk of surgical complications due to underlying respiratory weakness and cardiac pathologies.
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References
Vankan P. Prevalence gradients of Friedreich’s ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge. J Neurochem. 2013;126(Suppl):11–20.
Parkinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P. Clinical features of Friedreich’s ataxia: classical and atypical phenotypes. J Neurochem. 2013;126:103–17.
Campuzano V, et al. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271:1423–7.
Dürr A, et al. Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med. 1996;335:1169–75.
Cossée M, et al. Friedreich’s ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol. 1999;45:200–6.
Evans-Galea MV, et al. FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Ann Neurol. 2012;71:487–97.
Branda SS, Yang ZY, Chew A, Isaya G. Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae. Hum Mol Genet. 1999;8:1099–110.
Cnop M, Mulder H, Igoillo-Esteve M. Diabetes in Friedreich ataxia. J Neurochem. 2013;126(Suppl):94–102.
Regner SR, et al. Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia. Am J Cardiol. 2012;109:401–5.
Tsou AY, et al. Mortality in Friedreich ataxia. J Neurol Sci. 2011;307:46–9.
Cook A, Giunti P. Friedreich’s ataxia: clinical features, pathogenesis and management. Br Med Bull. 2017;124:19–30.
Reetz K, et al. Biological and clinical characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. Lancet Neurol. 2015;14:174–82.
Dogan I, et al. Structural characteristics of the central nervous system in Friedreich ataxia: an in vivo spinal cord and brain MRI study. J Neurol Neurosurg Psychiatry. 2018;1(3) https://doi.org/10.1136/jnnp-2018-318422.
Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB. Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis. 2014;9:1–12.
Vezina JG, Bouchard JP, Bouchard R. Urodynamic evaluation of patients with hereditary ataxias. Can J Neurol Sci. 1982;9:127–9.
Diez Rodríguez JM, et al. Clinico-urodynamic correlation in the hereditary ataxias. Arch Esp Urol. 2003;56:915–25.
Musegante AFA, Almeida PNS, Monteiro RTM, Barroso U. Urinary symptoms and urodynamics findings in patients with Friedreich’s Ataxia. Int Braz J Urol. 2013;39:867–74.
Lad M, et al. Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia. Orphanet J Rare Dis. 2017;12:1–6.
Stoffel JT, et al. AUA white paper on nonneurogenic chronic urinary retention: consensus definition, treatment algorithm, and outcome end points. J Urol. 2017;198:153–60.
Dray E, et al. Does post-void residual volume predict worsening urological symptoms in patients with multiple sclerosis? J Urol. 2018;200:868–74.
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Dray, E.V. (2020). Urologic Complications of Friedreich’s Ataxia. In: Stoffel, J.T., Dray, E.V. (eds) Urological Care for Patients with Progressive Neurological Conditions. Springer, Cham. https://doi.org/10.1007/978-3-030-23277-1_15
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DOI: https://doi.org/10.1007/978-3-030-23277-1_15
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