Skip to main content
SpringerLink
Log in

Quality of Life Changes Following the Onset of Cerebellar Ataxia: Symptoms and Concerns Self-reported by Ataxia Patients and Informants

  • Original Article
  • Published:
The Cerebellum Aims and scope Submit manuscript

Abstract

Semi-structured interviews of patient accounts and caregiver, or informant, perspectives are a beneficial resource for patients suffering from diseases with complex symptomatology, such as cerebellar ataxia. The aim of this study was to identify, quantify, and compare the ways in which cerebellar ataxia patients’ and informants’ quality of life had changed as a result of living with ataxia. Using a semi-structured interview, responses were collected from patients and informants regarding motor, cognitive, and psychosocial variables. Responses were also collected from patients and informants to open-ended questions that were subsequently categorized into 15 quality of life themes that best represented changes experienced by the patients and informants. Ataxia patients and informants agreed as to the severity of posture/gait, daily activities/fine motor tasks, speech/feeding/swallowing, and oculomotor/vision impairment. It was also demonstrated that severity ratings for specific motor-related functions strongly correlated with corresponding functions within the International Cooperative Ataxia Rating Scale (ICARS), and that this interview identified frequency associations between motor impairments and specific psychosocial difficulties, which could be useful for prognostic purposes. Overall, the information obtained from this study characterized the symptoms and challenges to ataxia patients and their caregivers, which could serve as a useful educational resource for those affected by ataxia, clinicians, and researchers.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

References:

  1. Paulson H. Repeat expansion diseases. Handb Clin Neurol. 2018;147:105–23. https://doi.org/10.1016/B978-0-444-63233-3.00009-9.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Opal P, Ashizawa T. Spinocerebellar Ataxia Type 1. In: M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirzaa and A. Amemiya, editors. GeneReviews(®). Seattle (WA), University of Washington, Seattle. Copyright © 1993–2021, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993.

  3. Jayadev S, Bird TD. Hereditary ataxias: overview. Genet Med. 2013;15:673–83. https://doi.org/10.1038/gim.2013.28.

    Article  CAS  PubMed  Google Scholar 

  4. Ashizawa T, Xia G. Ataxia Continuum (Minneap Minn). 2016;22:1208–26. https://doi.org/10.1212/CON.0000000000000362.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Maas RPPWM, Killaars S, van de Warrenburg BPC, Schutter DJLG. The cerebellar cognitive affective syndrome scale reveals early neuropsychological deficits in SCA3 patients. J Neurol. 2021;268:3456–66. https://doi.org/10.1007/s00415-021-10516-7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Liszewski CM, O'Hearn E, Leroi I. Lisa Gourley, M.A. ,, Christopher A. Ross, M.D., Ph.D. , and and Russell L. Margolis, M.D. Cognitive Impairment and Psychiatric Symptoms in 133 Patients With Diseases Associated With Cerebellar Degeneration. J Neuropsychiatry Clin Neurosci. 2004: 16:109–12. https://doi.org/10.1176/jnp.16.1.109

  7. Bolton C, Lacy M. Comparison of cognitive profiles in spinocerebellar ataxia subtypes: a case series. Cerebellum Ataxias. 2019;6:13. https://doi.org/10.1186/s40673-019-0107-4.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Morgan OP, Slapik MB, Iannuzzelli KG, LaConte SM, Lisinski JM, Nopoulos PC, Cochran AM, Kronemer SI, Rosenthal LS, Marvel CL. The Cerebellum and Implicit Sequencing: Evidence from Cerebellar Ataxia. Cerebellum. 2021;20:222–45. https://doi.org/10.1007/s12311-020-01206-7.

    Article  CAS  PubMed  Google Scholar 

  9. Slapik M, Kronemer SI, Morgan O, Bloes R, Lieberman S, Mandel J, Rosenthal L, Marvel C. Visuospatial Organization and Recall in Cerebellar Ataxia. Cerebellum. 2019;18:33–46. https://doi.org/10.1007/s12311-018-0948-z.

    Article  PubMed  Google Scholar 

  10. Timmann D, Drepper J, Maschke M, Kolb FP, Böring D, Thilmann AF, Diener HC. Motor deficits cannot explain impaired cognitive associative learning in cerebellar patients. Neuropsychologia. 2002;40:788–800. https://doi.org/10.1016/S0028-3932(01)00181-6.

    Article  PubMed  Google Scholar 

  11. Cooper FE, Grube M, Elsegood KJ, Welch JL, Kelly TP, Chinnery PF, Griffiths TD. The contribution of the cerebellum to cognition in Spinocerebellar Ataxia Type 6. Behav Neurol. 2010;23:3–15. https://doi.org/10.3233/BEN-2010-0265.

    Article  PubMed  PubMed Central  Google Scholar 

  12. Ravizza SM, McCormick CA, Schlerf JE, Justus T, Ivry RB, Fiez JA. Cerebellar damage produces selective deficits in verbal working memory. Brain. 2006;129:306–20. https://doi.org/10.1093/brain/awh685.

    Article  PubMed  Google Scholar 

  13. Schmahmann JD, Caplan D. Cognition, emotion and the cerebellum. Brain. 2006;129:290–2. https://doi.org/10.1093/brain/awh729.

    Article  PubMed  Google Scholar 

  14. Bostan AC, Dum RP, Strick PL. The basal ganglia communicate with the cerebellum. Proc Natl Acad Sci. 2010;107:8452. https://doi.org/10.1073/pnas.1000496107.

    Article  PubMed  PubMed Central  Google Scholar 

  15. Manto M, Gandini J, Feil K and Strupp M. Cerebellar ataxias: an update. Curr Opin Neurol. 2020: 33.

  16. Middleton FA, Strick PL. Anatomical evidence for cerebellar and basal ganglia involvement in higher cognitive function. Science. 1994;266:458–61. https://doi.org/10.1126/science.7939688.

    Article  CAS  PubMed  Google Scholar 

  17. Kronemer SI, Slapik MB, Pietrowski JR, Margron MJ, Morgan OP, Bakker CC, Rosenthal LS, Onyike CU, Marvel CL. Neuropsychiatric Symptoms as a Reliable Phenomenology of Cerebellar Ataxia. Cerebellum. 2021;20:141–50. https://doi.org/10.1007/s12311-020-01195-7.

    Article  PubMed  Google Scholar 

  18. Liszewski CM, O’Hearn E, Leroi I, Gourley L, Ross CA, Margolis RL. Cognitive Impairment and Psychiatric Symptoms in 133 Patients With Diseases Associated With Cerebellar Degeneration. J Neuropsychiatry Clin Neurosci. 2004;16:109–12. https://doi.org/10.1176/jnp.16.1.109.

    Article  PubMed  Google Scholar 

  19. Hoche F, Guell X, Vangel MG, Sherman JC, Schmahmann JD. The cerebellar cognitive affective/Schmahmann syndrome scale. Brain. 2018;141:248–70. https://doi.org/10.1093/brain/awx317.

    Article  PubMed  Google Scholar 

  20. Hoche F, Guell X, Sherman JC, Vangel MG, Schmahmann JD. Cerebellar Contribution to Social Cognition. Cerebellum. 2016;15:732–43. https://doi.org/10.1007/s12311-015-0746-9.

    Article  PubMed  PubMed Central  Google Scholar 

  21. Schmitz-Hübsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, Giunti P, Globas C, Infante J, Kang JS, Kremer B, Mariotti C, Melegh B, Pandolfo M, Rakowicz M, Ribai P, Rola R, Schöls L, Szymanski S, van de Warrenburg BP, Dürr A, Klockgether T. Scale for the assessment and rating of ataxia. Neurology. 2006;66:1717. https://doi.org/10.1212/01.wnl.0000219042.60538.92.

    Article  PubMed  Google Scholar 

  22. Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, Bryer A, Diener HC, Massaquoi S, Gomez CM, Coutinho P, Ben Hamida M, Campanella G, Filla A, Schut L, Timann D, Honnorat J, Nighoghossian N, Manyam B. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci. 1997;145:205–11. https://doi.org/10.1016/s0022-510x(96)00231-6.

    Article  CAS  PubMed  Google Scholar 

  23. Podsiadlo D, Richardson S. The timed “Up & Go”: a test of basic functional mobility for frail elderly persons. J Am Geriatr Soc. 1991;39:142–8. https://doi.org/10.1111/j.1532-5415.1991.tb01616.x.

    Article  CAS  PubMed  Google Scholar 

  24. Berg KO, Wood-Dauphinee SL, Williams JI, Maki B. Measuring balance in the elderly: validation of an instrument. Can J Public Health. 1992;83(Suppl 2):S7-11.

    PubMed  Google Scholar 

  25. Schmahmann JD, Pierce S, MacMore J, L’Italien GJ. Development and Validation of a Patient-Reported Outcome Measure of Ataxia. Mov Disord. 2021. https://doi.org/10.1002/mds.28670.

    Article  PubMed  Google Scholar 

  26. Trace K, Palaty C, Hagen S and Compton A. The Voice of the Patient: Living with Polyglutamine Spinocerebellar Ataxias (SCA) and Dentatorubal-Pallidoluysian Atrophy (DRPLA). National Ataxia Foundation (NAF) and Cure DRPLA; 2021.

  27. Cella D, Lai J-S, Nowinski CJ, Victorson D, Peterman A, Miller D, Bethoux F, Heinemann A, Rubin S, Cavazos JE, Reder AT, Sufit R, Simuni T, Holmes GL, Siderowf A, Wojna V, Bode R, McKinney N, Podrabsky T, Wortman K, Choi S, Gershon R, Rothrock N, Moy C. Neuro-QOL. Brief measures of health-related quality of life for clinical research in neurology. Neurology. 2012;78:1860–7. https://doi.org/10.1212/WNL.0b013e318258f744.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Krupp LB, LaRocca NG, Muir-Nash J, Steinberg AD. The fatigue severity scale. Application to patients with multiple sclerosis and systemic lupus erythematosus. Arch Neurol. 1989;46:1121–3. https://doi.org/10.1001/archneur.1989.00520460115022.

    Article  CAS  PubMed  Google Scholar 

  29. WordArt.com. https://wordart.com/.

  30. Klockgether T, Lüdtke R, Kramer B, Abele M, Bürk K, Schöls L, Riess O, Laccone F, Boesch S, Lopes-Cendes I, Brice A, Inzelberg R, Zilber N, Dichgans J. The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain. 1998;121:589–600. https://doi.org/10.1093/brain/121.4.589.

    Article  PubMed  Google Scholar 

  31. RStudio Team. RStudio: Integrated Development for R. Boston, RStudio, PBC; 2018.

  32. Gelbard R, Goldman O, Spiegler I. Investigating diversity of clustering methods: An empirical comparison. Data Knowl Eng. 2007;63:155–66. https://doi.org/10.1016/j.datak.2007.01.002.

    Article  Google Scholar 

  33. Kent P, Jensen RK, Kongsted A. A comparison of three clustering methods for finding subgroups in MRI, SMS or clinical data: SPSS TwoStep Cluster analysis, Latent Gold and SNOB. BMC Med Res Methodol. 2014;14:113. https://doi.org/10.1186/1471-2288-14-113.

    Article  PubMed  PubMed Central  Google Scholar 

  34. Kang SL, Shaikh AG, Ghasia FF. Vergence and Strabismus in Neurodegenerative Disorders. Front Neurol. 2018: 9. https://doi.org/10.3389/fneur.2018.00299

  35. Stoodley CJ, Schmahmann JD. Functional topography in the human cerebellum: a meta-analysis of neuroimaging studies. Neuroimage. 2009;44:489–501. https://doi.org/10.1016/j.neuroimage.2008.08.039.

    Article  PubMed  Google Scholar 

  36. Marvel CL, Morgan OP, Kronemer SI. How the motor system integrates with working memory. Neurosci Biobehav Rev. 2019;102:184–94. https://doi.org/10.1016/j.neubiorev.2019.04.017.

    Article  PubMed  PubMed Central  Google Scholar 

  37. Baumann O, Borra RJ, Bower JM, Cullen KE, Habas C, Ivry RB, Leggio M, Mattingley JB, Molinari M, Moulton EA, Paulin MG, Pavlova MA, Schmahmann JD, Sokolov AA. Consensus paper: the role of the cerebellum in perceptual processes. Cerebellum. 2015;14:197–220. https://doi.org/10.1007/s12311-014-0627-7.

    Article  PubMed  Google Scholar 

  38. Marvel CL, Desmond JE. The contributions of cerebro-cerebellar circuitry to executive verbal working memory. Cortex. 2010;46:880–95. https://doi.org/10.1016/j.cortex.2009.08.017.

    Article  PubMed  Google Scholar 

  39. du Pont A, Rhee SH, Corley RP, Hewitt JK, Friedman NP. Rumination and executive functions: Understanding cognitive vulnerability for psychopathology. J Affect Disord. 2019;256:550–9. https://doi.org/10.1016/j.jad.2019.06.026.

    Article  PubMed  PubMed Central  Google Scholar 

  40. Amir I, Ruimi L, Bernstein A. Simulating thoughts to measure and study internal attention in mental health. Sci Rep. 2021;11:2251. https://doi.org/10.1038/s41598-021-81756-w.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  41. Mackie M-A, Van Dam NT, Fan J. Cognitive control and attentional functions. Brain Cogn. 2013;82:301–12. https://doi.org/10.1016/j.bandc.2013.05.004.

    Article  PubMed  PubMed Central  Google Scholar 

  42. Lackner RJ, Fresco DM. Interaction effect of brooding rumination and interoceptive awareness on depression and anxiety symptoms. Behav Res Ther. 2016;85:43–52. https://doi.org/10.1016/j.brat.2016.08.007.

    Article  PubMed  PubMed Central  Google Scholar 

  43. Schmahmann JD. Disorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome. J Neuropsychiatry Clin Neurosci. 2004;16:367–78. https://doi.org/10.1176/jnp.16.3.367.

    Article  PubMed  Google Scholar 

  44. Tamura I, Takei A, Hamada S, Soma H, Nonaka M, Homma S, Moriwaka F. Executive dysfunction in patients with spinocerebellar ataxia type 3. J Neurol. 2018;265:1563–72. https://doi.org/10.1007/s00415-018-8883-y.

    Article  PubMed  Google Scholar 

  45. Bürk K, Globas C, Bösch S, Gräber S, Abele M, Brice A, Dichgans J, Daum I, Klockgether T. Cognitive deficits in spinocerebellar ataxia 2. Brain. 1999;122:769–77. https://doi.org/10.1093/brain/122.4.769.

    Article  PubMed  Google Scholar 

  46. Bürk K, Bösch S, Globas C, Zühlke C, Daum I, Klockgether T, Dichgans J. Executive Dysfunction in Spinocerebellar Ataxia Type 1. Eur Neurol. 2001;46:43–8. https://doi.org/10.1159/000050755.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

Jessica Pietrowski, Ryan Bloes, Jasmine Dixon assisted with interviews. We would like to thank the patients at the Ataxia Center at Johns Hopkins for their participation. We thank our volunteers, with and without ataxia, who contributed their valuable time and effort to this research. Finally, we thank and extend our gratitude towards the National Ataxia Foundation for providing resources for testing at the 2017 Annual Ataxia Conference.

Author information

Authors and Affiliations

  1. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA

    Michelle R. Joyce, Prianca A. Nadkarni, Sharif I. Kronemer, Mitchell B. Slapik, Owen P. Morgan, Liana S. Rosenthal & Cherie L. Marvel

  2. Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA

    Michael J. Margron, Chiadi U. Onyike & Cherie L. Marvel

Authors
  1. Michelle R. Joyce
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Prianca A. Nadkarni
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Sharif I. Kronemer
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Michael J. Margron
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Mitchell B. Slapik
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Owen P. Morgan
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Liana S. Rosenthal
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Chiadi U. Onyike
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Cherie L. Marvel
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

Sharif Kronemer, Chiadi Onyike, and Cherie Marvel contributed to the study conceptualization and design. Material preparation and data collection were performed by Sharif Kronemer, Michael Margron, Mitchell Slapik, Owen Morgan, and Cherie Marvel. Analyses were performed by Michelle Joyce, Prianca Nadkarni, and Cherie Marvel. The first draft of the manuscript was written by Michelle Joyce, Prianca Nadkarni, and Cherie Marvel, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Cherie L. Marvel.

Ethics declarations

The authors have no relevant financial or non-financial interests to disclose.

Conflict of Interest

The authors declare that they have no conflict of interest.

Additional information

Publisher's Note

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

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (DOCX 52 KB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Joyce, M.R., Nadkarni, P.A., Kronemer, S.I. et al. Quality of Life Changes Following the Onset of Cerebellar Ataxia: Symptoms and Concerns Self-reported by Ataxia Patients and Informants. Cerebellum 21, 592–605 (2022). https://doi.org/10.1007/s12311-022-01393-5

Download citation

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12311-022-01393-5

Keywords

Search

Navigation