Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6

Authors

  • Lynn Rochester PhD,

    Corresponding author
    1. Institute for Ageing and Health, Clinical Ageing Research Unit, Newcastle University, Newcastle upon Tyne, United Kingdom
    • Correspondence to: Dr. Lynn Rochester, Professor of Human Movement Science, Institute for Ageing and Health, Newcastle University, Clinical Ageing Research Unit, Campus for Ageing and Vitality, Newcastle upon Tyne, NE4 5PL, UK; lynn.rochester@ncl.ac.uk

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  • Brook Galna PhD,

    1. Institute for Ageing and Health, Clinical Ageing Research Unit, Newcastle University, Newcastle upon Tyne, United Kingdom
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  • Sue Lord PhD,

    1. Institute for Ageing and Health, Clinical Ageing Research Unit, Newcastle University, Newcastle upon Tyne, United Kingdom
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  • Dadirayi Mhiripiri MSc,

    1. Institute for Ageing and Health, Clinical Ageing Research Unit, Newcastle University, Newcastle upon Tyne, United Kingdom
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  • Gail Eglon,

    1. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
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  • Patrick F. Chinnery PhD, FMedSci

    1. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
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  • Funding agencies: National Institute for Health Research (NIHR) Newcastle Biomedical Research Centre and Unit based at Newcastle upon Tyne Hospitals NHS Foundation Trust and Newcastle University; Research Capability Funding from Newcastle upon Tyne Hospitals NHS Foundation Trust; NIHR Newcastle CRF Infrastructure funding. The views expressed are those of the authors and not necessarily those of the NHS or NIHR or the Department of Health.

  • Relevant conflicts of interest/financial disclosures: Nothing to report.

  • Full financial disclosures and author roles may be found in the online version of this article.

ABSTRACT

Background

Spinocerebellar ataxia type 6 (SCA6) is an inherited ataxia with no established treatment. Gait ataxia is a prominent feature causing substantial disability. Understanding the evolution of the gait disturbance is a key step in developing treatment strategies.

Methods

We studied 9 gait variables in 24 SCA6 (6 presymptomatic; 18 symptomatic) and 24 controls and correlated gait with clinical severity (presymptomatic and symptomatic).

Results

Discrete gait characteristics precede symptoms in SCA6 with significantly increased variability of step width and step time, whereas a more global gait deficit was evident in symptomatic individuals. Gait characteristics discriminated between presymptomatic and symptomatic individuals and were selectively associated with disease severity.

Conclusions

This is the largest study to include a detailed characterization of gait in SCA6, including presymptomatic subjects, allowing changes across the disease spectrum to be compared. Selective gait disturbance is already present in SCA6 before clinical symptoms appear and gait characteristics are also sensitive to disease progression. Early gait disturbance likely reflects primary pathology distinct from secondary changes. These findings open the opportunity for early evaluation and sensitive measures of therapeutic efficacy using instrumented gait analysis which may have broader relevance for all degenerative ataxias. © 2013 International Parkinson and Movement Disorder Society

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