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Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia

The Cerebellum volume 13, pages 677–688 (2014)Cite this article

Abstract

Friedreich ataxia (FRDA) is an autosomal recessive disease with gait ataxia being the main source of morbidity. Mobility progressively declines, from initial symptom onset at approximately 10–15 years of age to being unable to ambulate 10–15 years later. Here, we sought to investigate the relationship between spatiotemporal gait parameters and clinical markers of disease severity. Thirteen people with FRDA walked along an 8.3-m GAITRite® mat six times each at their preferred fast and slow speeds. Relationships between spatiotemporal gait parameters and a range of clinical and disease characteristics were examined. Significant correlations were found between spatiotemporal gait characteristics at each of the walking speeds and Friedreich Ataxia Rating Scale (FARS) score and disease duration. During the fast-walking condition, gait speed and cadence decreased with an increase in disease duration and the FARS score. GAA1 repeat expansion negatively correlated with double-support percentage of the gait cycle in all speed conditions demonstrating a relationship between the genetic mutation and compensatory strategies for impaired dynamic balance. In all speed conditions, there were correlations between a range of spatiotemporal gait characteristics and the timed 25-ft walk test, a well-established measure of gait mobility. These findings suggest that spatiotemporal gait parameters are a sensitive measure of gait decline in individuals with FRDA and should be considered for inclusion in intervention studies whilst participants are still ambulant.

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Acknowledgments

The authors would like to thank all the participants who gave their time for this project. We would also like to thank the Friedreich Ataxia Research Association (Australasia), the Friedreich Ataxia Research Alliance (USA) and Murdoch Childrens Research Institute for their ongoing financial support. The authors would also like to thank the Kingston Centre Physiotherapy Department for its support. LAC is an Early Career Fellow; MBD is a Practitioner Fellow of the National Health and Medical Research Council. DRH was supported by a Monash Research Fellowship.

Conflict of Interest

Ms Sarah Milne reports no disclosures or conflict of interest related to this manuscript.

Dr. Darren Hocking reports no disclosures or conflict of interest related to this manuscript.

Professor Nellie Georgiou-Karistianis reports no disclosures or conflict of interest related to this manuscript.

Dr. Anna Murphy reports no disclosures or conflict of interest related to this manuscript.

Professor Martin Delatycki receives research support from National Health and Medical Research Council, Friedreich Ataxia Research Alliance and Friedreich Ataxia Research Association and is a consultant for Healthscope Pathology.

Dr. Louise Corben reports no disclosures or conflict of interest related to this manuscript.

Author information

Affiliations

  1. Physiotherapy Department, Kingston Centre, Monash Health, Cheltenham, VIC, Australia

    Sarah C. Milne

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

    Sarah C. Milne, Nellie Georgiou-Karistianis, Martin B. Delatycki & Louise A. Corben

  3. Bruce Lefroy Centre, Murdoch Childrens Research Institute, Flemington Road, Parkville, VIC, 3052, Australia

    Sarah C. Milne, Martin B. Delatycki & Louise A. Corben

  4. Community Rehabilitation Program, Peter James Centre, Eastern Health, Burwood East, VIC, Australia

    Sarah C. Milne

  5. Olga Tennison Autism Research Centre, School of Psychological Science, La Trobe University, Bundoora, VIC, Australia

    Darren R. Hocking

  6. MONARC, Faculty of Medicine, Nursing and Health Sciences, Monash University, Cheltenham, VIC, Australia

    Anna Murphy

  7. Clinical Research Centre for Movement Disorders and Gait, Kingston Centre, Monash Health, Cheltenham, VIC, Australia

    Anna Murphy

  8. Clinical Genetics, Austin Health, Heidelberg, VIC, Australia

    Martin B. Delatycki

  9. Monash Medical Centre, Monash Health, Clayton, VIC, Australia

    Louise A. Corben

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  1. Sarah C. Milne
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  2. Darren R. Hocking
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  3. Nellie Georgiou-Karistianis
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Correspondence to Louise A. Corben.

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Sarah C. Milne and Darren R. Hocking are joint first authors

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Milne, S.C., Hocking, D.R., Georgiou-Karistianis, N. et al. Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia. Cerebellum 13, 677–688 (2014). https://doi.org/10.1007/s12311-014-0583-2

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Keywords

  • Friedreich ataxia
  • Gait analysis
  • Cerebellum
  • Spatiotemporal
  • Neurodegenerative diseases
  • Outcome measure