Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia

Meher Lad, Michael H Parkinson, Myriam Rai, Massimo Pandolfo, Petya Bogdanova-Mihaylova, Richard A Walsh, Sinéad Murphy, Anton Emmanuel, Jalesh Panicker, Paola Giunti, Meher Lad, Michael H Parkinson, Myriam Rai, Massimo Pandolfo, Petya Bogdanova-Mihaylova, Richard A Walsh, Sinéad Murphy, Anton Emmanuel, Jalesh Panicker, Paola Giunti

Abstract

Background: Pelvic symptoms are distressing symptoms experienced by patients with Friedreich's Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual symptoms in FRDA.

Methods: Questionnaire scores measuring LUTS, bowel and sexual symptoms were analysed with descriptive statistics as a cohort and as subgroups (Early/Late-onset and Early/Late-stage FRDA) They were also correlated with validated measures of disease severity including those of ataxia severity, non-ataxic symptoms and activities of daily living.

Results: 80% (n = 46/56) of patients reported LUTS, 64% (n = 38/59) reported bowel symptoms and 83% (n = 30/36) reported sexual symptoms. Urinary and bowel or sexual symptoms were significantly likely to co-exist among patients. Late-onset FRDA patients were also more likely to report LUTS than early-onset ones. Patients with a longer disease duration reported higher LUTS scores and poorer quality of life scores related to urinary symptoms.

Conclusions: A high proportion of FRDA have symptoms suggestive of LUTS, bowel and sexual dysfunction. This is more marked with greater disease duration and later disease onset. These symptoms need to be addressed by clinicians as they can have a detrimental effect on patients.

Trial registration: ClinicalTrials.gov NCT02069509.

Keywords: Bladder; Bowel; Friedreich’s ataxia; Sexual function; Urinary.

Conflict of interest statement

Ethics approval and consent to participate

This was gained from the UCLH Research Ethics Committee as a service evaluation.

Consent for publication

Informed consent was obtained from all patients.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

References

    1. Filla A, DeMichele G, Caruso G, Marconi R, Campanella G. Genetic data and natural history of Friedreich's disease: a study of 80 Italian patients. J Neurol. 1990;237(6):345–351. doi: 10.1007/BF00315657.
    1. Schulz JB, Boesch S, Burk K, Durr A, Giunti P, Mariotti C, Pousset F, Schols L, Vankan P, Pandolfo M. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol. 2009;5(4):222–234. doi: 10.1038/nrneurol.2009.26.
    1. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271(5254):1423–1427. doi: 10.1126/science.271.5254.1423.
    1. Abeti R, Parkinson MH, Hargreaves IP, Angelova PR, Sandi C, Pook MA, Giunti P, Abramov AY. Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia. Cell Death Dis. 2016;7:e2237. doi: 10.1038/cddis.2016.111.
    1. Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain. 1981;104(3):589–620. doi: 10.1093/brain/104.3.589.
    1. Hewer RL. Study of fatal cases of Friedreich's ataxia. Br Med J. 1968;3(5619):649–652. doi: 10.1136/bmj.3.5619.649.
    1. Hewer RL, Robinson N. Diabetes mellitus in Friedreich's ataxia. J Neurol Neurosurg Psychiatry. 1968;31(3):226–231. doi: 10.1136/jnnp.31.3.226.
    1. Parkinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P. Clinical features of Friedreich's ataxia: classical and atypical phenotypes. J Neurochem. 2013;126(Suppl 1):103–117. doi: 10.1111/jnc.12317.
    1. Nieto A, Correia R, de Nobrega E, Monton F, Hess S, Barroso J. Cognition in Friedreich ataxia. Cerebellum. 2012;11(4):834–844. doi: 10.1007/s12311-012-0363-9.
    1. Andermann E, Remillard GM, Goyer C, Blitzer L, Andermann F, Barbeau A. Genetic and family studies in Friedreich's ataxia. Can J Neurol Sci. 1976;3(4):287–301. doi: 10.1017/S0317167100025476.
    1. Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, MacMillan JC, Collins V, Williamson R, Forrest SM. Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet. 1999;87(2):168–174. doi: 10.1002/(SICI)1096-8628(19991119)87:2<168::AID-AJMG8>;2-2.
    1. Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, Bouchard JP. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci. 1976;3(4):279–286. doi: 10.1017/S0317167100025464.
    1. McCabe DJ, Ryan F, Moore DP, McQuaid S, King MD, Kelly A, Daly K, Barton DE, Murphy RP. Typical Friedreich's ataxia without GAA expansions and GAA expansion without typical Friedreich's ataxia. J Neurol. 2000;247(5):346–355. doi: 10.1007/s004150050601.
    1. Musegante AF, Almeida PN, Monteiro RT, Barroso U., Jr Urinary symptoms and urodynamics findings in patients with Friedreich's ataxia. Int Braz J Urol. 2013;39(6):867–874. doi: 10.1590/S1677-5538.IBJU.2013.06.14.
    1. Burk K, Malzig U, Wolf S, Heck S, Dimitriadis K, Schmitz-Hubsch T, Hering S, Lindig TM, Haug V, Timmann D, et al. Comparison of three clinical rating scales in Friedreich ataxia (FRDA) Mov Disord. 2009;24(12):1779–1784. doi: 10.1002/mds.22660.
    1. Schmitz-Hubsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, Giunti P, Globas C, Infante J, Kang JS, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66(11):1717–1720. doi: 10.1212/01.wnl.0000219042.60538.92.
    1. Jacobi H, Rakowicz M, Rola R, Fancellu R, Mariotti C, Charles P, Durr A, Kuper M, Timmann D, Linnemann C, et al. Inventory of non-ataxia signs (INAS): validation of a new clinical assessment instrument. Cerebellum. 2013;12(3):418–428. doi: 10.1007/s12311-012-0421-3.
    1. Subramony SH, May W, Lynch D, Gomez C, Fischbeck K, Hallett M, Taylor P, Wilson R, Ashizawa T, Cooperative Ataxia G. Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale. Neurology. 2005;64(7):1261–1262. doi: 10.1212/01.WNL.0000156802.15466.79.
    1. Sudarsky LR. Validation of a neurological-exam-based rating scale (FARS) for Friedreich's ataxia. Nat Clin Pract Neurol. 2007;3(3):138–139. doi: 10.1038/ncpneuro0423.
    1. Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, 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(2):174–182. doi: 10.1016/S1474-4422(14)70321-7.
    1. Haab F, Richard F, Amarenco G, Coloby P, Arnould B, Benmedjahed K, Guillemin I, Grise P. Comprehensive evaluation of bladder and urethral dysfunction symptoms: development and psychometric validation of the urinary symptom profile (USP) questionnaire. Urology. 2008;71(4):646–656. doi: 10.1016/j.urology.2007.11.100.
    1. Bonniaud V, Bryant D, Parratte B, Guyatt G. Development and validation of the short form of a urinary quality of life questionnaire: SF-Qualiveen. J Urology. 2008;180(6):2592–2598. doi: 10.1016/j.juro.2008.08.016.
    1. Krogh K, Christensen P, Sabroe S, Laurberg S. Neurogenic bowel dysfunction score. Spinal Cord. 2006;44(10):625–631. doi: 10.1038/sj.sc.3101887.
    1. McGahuey CA, Gelenberg AJ, Laukes CA, Moreno FA, Delgado PL, McKnight KM, Manber R. The Arizona sexual experience scale (ASEX): reliability and validity. J Sex Marital Ther. 2000;26(1):25–40. doi: 10.1080/009262300278623.
    1. Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M. Clinical and genetic abnormalities in patients with Friedreich's ataxia. New Engl J Med. 1996;335(16):1169–1175. doi: 10.1056/NEJM199610173351601.
    1. Diez Rodriguez JM, Salinas Casado J, Fernandez del Busto E, Mora Durban M, Manas Pelillo A, Munoz Delgado B, Arrizabalaga Moreno M, Paniagua Andres P. Clinico-urodynamic correlation in the hereditary ataxias. Arch Esp Urol. 2003;56(8):915–925.
    1. Nardulli R, Monitillo V, Losavio E, Fiore P, Nicolardi G, Megna G. Urodynamic evaluation of 12 ataxic subjects: neurophysiopathologic considerations. Funct Neurol. 1992;7(3):223–225.
    1. Diez Rodriguez JM, Salinas Casado J, Fernandez del Busto E, Navarro Sebastian J, Mora Durban M, Manas Pelillo A, Arrizabalaga Moreno M. Urogenital alterations in hereditary and sporadic neurodegenerative ataxias. Neurologia. 2005;20(1):17–23.
    1. Panicker JN, Fowler CJ, Kessler TM. Lower urinary tract dysfunction in the neurological patient: clinical assessment and management. Lancet Neurol. 2015;14(7):720–732. doi: 10.1016/S1474-4422(15)00070-8.
    1. Koeppen AH, Mazurkiewicz JE. Friedreich ataxia: neuropathology revised. J Neuropathol Exp Neurol. 2013;72(2):78–90. doi: 10.1097/NEN.0b013e31827e5762.
    1. Panicker JN. Uroneurology. In: Clarke CHR, Rossor M, Shorvon SD, editors. Neurology: a Queen Square textbook. Second ed: Chichester: John Wiley & Sons; 2016. p. 967–84.
    1. Emmanuel A. Managing neurogenic bowel dysfunction. Clin Rehabil. 2010;24(6):483–488. doi: 10.1177/0269215509353253.
    1. Purves DA, G J, Fitzpatrick D. Autonomic regulation of sexual function. In: Neuroscience. Second ed. Sunderland: Sinauer Associates; 2001.

Source: PubMed

Sponzoři a spolupracovníci

Zdravotní podmínky

Drogové intervence

3
Předplatit