Skip to main content

Advertisement

SpringerLink
Log in

How does performance of the Friedreich Ataxia Functional Composite compare to rating scales?

  • Original Communication
  • Published:
Journal of Neurology Aims and scope Submit manuscript

Abstract

Progression of Friedreich ataxia (FRDA) is often measured using neurological rating scales such as the Friedreich Ataxia Rating Scale (FARS). Performance scales comprising functional measures have been used in other conditions due to their increased sensitivity and reproducibility and may replace examination-based measures. The aims of this study were to examine the relationship between the Friedreich Ataxia Functional Composite (FAFC) measures and characteristics of FRDA to determine if the FAFC is more sensitive to clinical change over time compared to its components. One hundred and twenty-two individuals completed the timed 25-foot walk (T25FW), 9-Hole Peg Test (9HPT) and the low-contrast letter acuity (LCLA) test at baseline, 63 at year 1, 34 at year 2 and 25 at year 3. Composite scores, Z2 (T25FW and 9HPT) and Z3 (T25FW, 9HPT and LCLA) were created. Correlation analyses were conducted. Change in FAFC components were examined over 1, 2, and 3 years. The FARS, Z2, Z3 and 9HPT showed significant change over all time points compared to baseline. The T25FW only demonstrated significant change over 3 years. The LCLA demonstrated no significant change over any of the time points. The FAFC shows significant change over time and indicates disease progression, however, this may result from individual components driving the differences. The LCLA showed no change over time, rendering Z3 redundant. The FAFC is of limited value in cohorts with non-ambulant individuals as it leads to skewing of the dataset and is better suited to less affected populations.

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

Similar content being viewed by others

References

  1. Cossee M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel J, Koenig M (1997) Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci USA 94:7452–7457

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Delatycki M, Williamson R, Forrest S (2000) Friedreich ataxia: an overview. J Med Genet 37:1–8

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M (1996) Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med 335:1169–1175

    Article  CAS  PubMed  Google Scholar 

  4. Campuzano V, Montermini L, Molto M, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani S, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel P, Di Donato S, Mandel J, Cocozza S, Koenig M, Pandolfo M (1996) Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423–1427

    Article  CAS  PubMed  Google Scholar 

  5. Subramony SH, May W, Lynch DR, Gomez CM, Fischbeck KH, Hallett M, Taylor P, Wilson RB, Ashizawa T (2005) Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology 64:1261–1262

    Article  CAS  PubMed  Google Scholar 

  6. 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 (1997) 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 145:205–211

    Article  CAS  PubMed  Google Scholar 

  7. Schmitz-Hubsch 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, Schols L, Szymanski S, van de Warrenburg BP, Durr A, Klockgether T, Fancellu R (2006) Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 66:1717–1720

    Article  CAS  PubMed  Google Scholar 

  8. Delatycki MB (2009) Evaluating the progression of Friedreich ataxia and its treatment. J Neurol 256(Suppl 1):36–41

    Article  PubMed  Google Scholar 

  9. Lynch DR, Farmer JM, Wilson RL, Balcer LJ (2005) Performance measures in Friedreich ataxia: potential utility as clinical outcome tools. Mov Disord 20:777–782

    Article  PubMed  Google Scholar 

  10. Amato MP, Portaccio E (2007) Clinical outcome measures in multiple sclerosis. J Neurol Sci 259:118–122

    Article  PubMed  Google Scholar 

  11. Lynch DR, Farmer JM, Tsou AY, Perlman S, Subramony SH, Gomez CM, Ashizawa T, Wilmot GR, Wilson RB, Balcer LJ (2006) Measuring Friedreich ataxia: complementary features of examination and performance measures. Neurology 66:1711–1716

    Article  CAS  PubMed  Google Scholar 

  12. Cutter GR, Baier ML, Rudick RA, Cookfair DL, Fischer JS, Petkau J, Syndulko K, Weinshenker BG, Antel JP, Confavreux C, Ellison GW, Lublin F, Miller AE, Rao SM, Reingold S, Thompson A, Willoughby E (1999) Development of a multiple sclerosis functional composite as a clinical trial outcome measure. Brain 122:871–882

    Article  PubMed  Google Scholar 

  13. Cohen JA, Fischer JS, Bolibrush DM, Jak AJ, Kniker JE, Mertz LA, Skaramagas TT, Cutter GR (2000) Intrarater and interrater reliability of the MS functional composite outcome measure. Neurology 54:802–806

    Article  CAS  PubMed  Google Scholar 

  14. Rudick RA, Cutter G, Reingold S (2002) The multiple sclerosis functional composite: a new clinical outcome measure for multiple sclerosis trials. Mult Scler 8:359–365

    Article  CAS  PubMed  Google Scholar 

  15. Fischer JS, Jak AJ, Kniker JE, Rudick RA, Cutter GR (2001) Multiple sclerosis functional composite (MSFC): administration and scoring manual (online). http://main.nationalmssociety.org/docs/HOM/MSFC_Manual_and_Forms.pdf. Accessed Dec 2016

  16. Lynch DR, Farmer JM, Rochestie D, Balcer LJ (2002) Contrast letter acuity as a measure of visual dysfunction in patients with Friedreich ataxia. J Neuroophthalmol 22:270–274

    Article  PubMed  Google Scholar 

  17. Balcer L, Baier M, Cohen J, Kooijmans M, Sandrock A, Nano-Schiavi M, Pfohl D, Mills M, Bowen J, Ford C, Heidenreich F, Jacobs D, Markowitz C, Stuart W, Ying G, Galetta S, Maguire M, Cutter G (2003) Contrast letter acuity as a visual component for the multiple sclerosis functional composite. Neurology 61:1367–1373

    Article  CAS  PubMed  Google Scholar 

  18. Friedman LS, Farmer JM, Perlman S, Wilmot G, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Balcer LJ, Wilson RB, Lynch DR (2010) Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord 25:426–432

    Article  PubMed  PubMed Central  Google Scholar 

  19. Patel M, Isaacs CJ, Seyer L, Brigatti KW, Gelbard S, Strawser C, Foerster D, Shinnick J, Schadt K, Yiu E, Delatycki M, Perlman S, Wilmot G, Zesiewicz TA, Mathews K, Gomez CM, Yoon G, Subramony SH, Brocht A, Farmer J, Lynch DR (2016) Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol 3:684–694

    Article  PubMed  PubMed Central  Google Scholar 

  20. Oxford Grice K, Vogel KA, Le V, Mitchell A, Muniz S, Vollmer MA (2003) Adult norms for a commercially available Nine Hole Peg Test for finger dexterity. Am J Occup Ther 57:570–573

    Article  PubMed  Google Scholar 

  21. Corben LA, Tai G, Wilson C, Collins V, Churchyard AJ, Delatycki MB (2010) A comparison of three measures of upper limb function in Friedreich ataxia. J Neurol 257:518–523

    Article  CAS  PubMed  Google Scholar 

  22. Reetz K, Dogan I, Hilgers R-D, Giunti P, Mariotti C, Durr A, Boesch S, Klopstock T, Rodriguez de Rivera FJ, Schols L, Klockgether T, Burk K, Rai M, Pandolfo M, Schulz JB (2016) Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study. Lancet Neurol 15:1345–1354

    Article  Google Scholar 

  23. Polman C, Rudick RA (2010) The multiple sclerosis functional composite: a clinically meaningful measure of disability. Neurology 74:S8–15

    Article  PubMed  Google Scholar 

  24. Fox R, Lee J, Rudick RA (2007) Optimal reference population for the multiple sclerosis functional composite. Mult Scler 13:909–914

    Article  CAS  PubMed  Google Scholar 

  25. Rosti-Otajarvi E, Hamalainen P, Koivisto K, Hokkanen L (2008) The reliability of the MSFC and its components. Acta Neurol Scand 117:421–427

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

The authors would like to thank all the participants involved in this study and the Collaborative Clinical Research Network in Friedreich ataxia. The authors also acknowledge the Friedreich Ataxia Research Association (Australasia), the Friedreich Ataxia Research Alliance (United States of America) and Murdoch Childrens Research Institute for their ongoing financial support.

Author information

Authors and Affiliations

  1. Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Rd, Parkville, VIC, 3052, Australia

    Geneieve Tai, Eppie M. Yiu, Martin B. Delatycki & Louise A. Corben

  2. Faculty of Medicine, Nursing and Health Sciences, School of Psychological Science, Monash University, Clayton, VIC, 3168, Australia

    Martin B. Delatycki & Louise A. Corben

  3. Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia

    Eppie M. Yiu, Martin B. Delatycki & Louise A. Corben

  4. Department of Occupational Therapy, Monash Health, Clayton, VIC, 3086, Australia

    Louise A. Corben

  5. Department of Neurology, Royal Children’s Hospital, Parkville, VIC, 3052, Australia

    Eppie M. Yiu

  6. Victorian Clinical Genetics Services, Parkville, VIC, 3052, Australia

    Martin B. Delatycki

Authors
  1. Geneieve Tai
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Eppie M. Yiu
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Martin B. Delatycki
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Louise A. Corben
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Louise A. Corben.

Ethics declarations

Conflicts of interest

The authors declare that they have no conflict of interest.

Ethical standards

Approval for this study was obtained from the Monash Health Human Research Ethics Committee (HREC 02114A). All participants gave informed, written consent in accordance with the Declaration of Helsinki.

Financial disclosures of all authors

This study was supported by the Victorian Government’s Operational Infrastructure Support Program. GT reports no disclosures. EMY is supported by a National Health Medical Research Council (NHMRC) Early Career Fellowship. MBD receives grant support from NHMRC. LAC reports no disclosures.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Tai, G., Yiu, E.M., Delatycki, M.B. et al. How does performance of the Friedreich Ataxia Functional Composite compare to rating scales?. J Neurol 264, 1768–1776 (2017). https://doi.org/10.1007/s00415-017-8566-0

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-017-8566-0

Keywords

Search

Navigation