Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity§

Authors

  • Cecilia Marelli MD,

    1. Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle epiniere, UMR-S975, Paris, France
    2. Inserm, U975, Paris, France
    3. Cnrs, UMR 7225, Paris, France
    4. P-HP, Hôpital Pitié-Salpêtrière, Department of Genetics and Cytogenetics, Paris, France
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  • Julie Figoni MS,

    1. AP-HP, Department of Biostatistics and Medical Informatics and Pitié-Salpêtrière Charles-Foix Clinical Research Unit, Paris, France
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  • Perrine Charles MD, PhD,

    1. P-HP, Hôpital Pitié-Salpêtrière, Department of Genetics and Cytogenetics, Paris, France
    2. AP-HP, Pitié-Salpêtrière Hospital, Federation of the Nervous System Diseases, Paris, France
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  • Mathieu Anheim MD, PhD,

    1. P-HP, Hôpital Pitié-Salpêtrière, Department of Genetics and Cytogenetics, Paris, France
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  • Maya Tchikviladze MD,

    1. P-HP, Hôpital Pitié-Salpêtrière, Department of Genetics and Cytogenetics, Paris, France
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  • Carlo-Maria Vincitorio MD,

    1. P-HP, Hôpital Pitié-Salpêtrière, Department of Genetics and Cytogenetics, Paris, France
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  • Sophie Tezenas du Montcel MD, PhD,

    1. AP-HP, Department of Biostatistics and Medical Informatics and Pitié-Salpêtrière Charles-Foix Clinical Research Unit, Paris, France
    2. Université Pierre et Marie Curie-Paris6, ER4 (formerly EA 3974), Modeling in Clinical Research, Paris, France
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  • Alexis Brice MD,

    1. Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle epiniere, UMR-S975, Paris, France
    2. Inserm, U975, Paris, France
    3. Cnrs, UMR 7225, Paris, France
    4. P-HP, Hôpital Pitié-Salpêtrière, Department of Genetics and Cytogenetics, Paris, France
    5. AP-HP, Pitié-Salpêtrière Hospital, Federation of the Nervous System Diseases, Paris, France
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  • Jean Louis Golmard MD, PhD,

    1. AP-HP, Department of Biostatistics and Medical Informatics and Pitié-Salpêtrière Charles-Foix Clinical Research Unit, Paris, France
    2. Université Pierre et Marie Curie-Paris6, ER4 (formerly EA 3974), Modeling in Clinical Research, Paris, France
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  • Alexandra Dürr MD, PhD

    Corresponding author
    1. Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle epiniere, UMR-S975, Paris, France
    2. Inserm, U975, Paris, France
    3. Cnrs, UMR 7225, Paris, France
    4. P-HP, Hôpital Pitié-Salpêtrière, Department of Genetics and Cytogenetics, Paris, France
    • INSERM UMRS975 and Department of Genetics and Cytogenetic Hôpital Pitié-Salpêtrière, 47, Boulevard de l'Hôpital 75651 Paris Cedex 13, France
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  • Funding agencies: This study was funded by EuroSca (contract LSHM-CT-2004-503304).

  • 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:

The objective of the study was to evaluate the sensitivity to change of the Scale for the Assessment and Rating of Ataxia (score, 0–40) in Friedreich's ataxia.

Methods:

This was a follow-up study in adult patients with genetically confirmed Friedreich's ataxia evaluated at least twice (minimum interval, 6 months). Participants were outpatients at the Center for Neurogenetics of the Pitie-Salpêtrière Hospital in Paris.

Results:

We included 84 patients; 60% had 3 or more evaluations. The mean score on first assessment was 22.7 ± 9, and the mean follow-up was 1.84 ± 1.10 years. The mean increase was 1.36 ± 2.3 points/year; this variation was not significantly linked to factors known to influence disease severity such as age at onset, disease duration, GAA expansion length, and wheelchair use.

Conclusions:

In adult Friedreich's ataxia patients the Scale for the Assessment and Rating of Ataxia can detect annual changes independently of disease severity. In future therapeutic trials no patient stratification is globally required. © 2011 Movement Disorder Society

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