Skip to main content

Urologic Complications of Friedreich’s Ataxia

  • Chapter
  • First Online:
Urological Care for Patients with Progressive Neurological Conditions
  • 341 Accesses

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.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 79.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 99.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  1. 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.

    Article  CAS  PubMed  Google Scholar 

  2. 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.

    Article  CAS  PubMed  Google Scholar 

  3. Campuzano V, et al. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271:1423–7.

    Article  CAS  PubMed  Google Scholar 

  4. Dürr A, et al. Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med. 1996;335:1169–75.

    Article  PubMed  Google Scholar 

  5. Cossée M, et al. Friedreich’s ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol. 1999;45:200–6.

    Article  PubMed  Google Scholar 

  6. Evans-Galea MV, et al. FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Ann Neurol. 2012;71:487–97.

    Article  CAS  PubMed  Google Scholar 

  7. 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.

    Article  CAS  PubMed  Google Scholar 

  8. Cnop M, Mulder H, Igoillo-Esteve M. Diabetes in Friedreich ataxia. J Neurochem. 2013;126(Suppl):94–102.

    Article  CAS  PubMed  Google Scholar 

  9. Regner SR, et al. Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia. Am J Cardiol. 2012;109:401–5.

    Article  PubMed  Google Scholar 

  10. Tsou AY, et al. Mortality in Friedreich ataxia. J Neurol Sci. 2011;307:46–9.

    Article  PubMed  Google Scholar 

  11. Cook A, Giunti P. Friedreich’s ataxia: clinical features, pathogenesis and management. Br Med Bull. 2017;124:19–30.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. 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.

    Article  PubMed  Google Scholar 

  13. 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.

  14. 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.

    Article  Google Scholar 

  15. Vezina JG, Bouchard JP, Bouchard R. Urodynamic evaluation of patients with hereditary ataxias. Can J Neurol Sci. 1982;9:127–9.

    Article  CAS  PubMed  Google Scholar 

  16. Diez Rodríguez JM, et al. Clinico-urodynamic correlation in the hereditary ataxias. Arch Esp Urol. 2003;56:915–25.

    PubMed  Google Scholar 

  17. 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.

    Article  PubMed  Google Scholar 

  18. 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.

    Article  Google Scholar 

  19. 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.

    Article  PubMed  Google Scholar 

  20. Dray E, et al. Does post-void residual volume predict worsening urological symptoms in patients with multiple sclerosis? J Urol. 2018;200:868–74.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

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

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-23277-1_15

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-23276-4

  • Online ISBN: 978-3-030-23277-1

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics