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Routine Clinical Testing Underestimates Proprioceptive Deficits in Friedreich’s Ataxia

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Abstract

Friedreich’s ataxia (FA) is the most common recessive ataxia in the Western world with degeneration of dorsal root ganglia neurons as its major neuropathological hallmark. The sensitivity of clinical tools commonly used for the assessment of the proprioceptive component of FA is currently unknown. We hypothesised that current clinical testing underestimates proprioceptive deficits in FA patients. Such an underestimation would hamper our understanding of the components of FA, the monitoring of disease progression, and the detection of deficits in the current advent of drug trials. We compared clinical tests for joint position sense (JPS) and vibration sense (VS) to a test of spatial position sense (SPS) that examines localisation of both hands across a horizontal 2D space. We tested 22 healthy controls to derive a cut-off for the SPS. Eleven patients with genetically confirmed FA participated in this study. All 11 FA patients were impaired in the SPS test. Two patients showed unimpaired JPS and VS. Two additional patients showed unimpaired JPS, while two other patients unimpaired VS. The SPS test was more sensitive and revealed deficits potentially earlier than clinical screening tests. Only the SPS showed a positive correlation with ataxia severity. The SPS was more sensitive than the commonly used JPS and VS. Thus, our results indicate that proprioceptive deficits in FA start earlier and are more severe than indicated by routine standard clinical testing. The contribution of proprioceptive deficits to the impairment of FA patients might therefore indeed be underestimated today.

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Acknowledgments

We are grateful to the Nathalie Mandel and Alexandra Taylor for their support in data acquisition, and to Dr. Julia Schicks (Dept. of Neurodegeneration, Hertie-Institute for Clinical Brain Research, Tuebingen) for patient referral. This work was supported by the European Union (ERC StG 211078), the DFG (Ka 1258/10-1) and the Volkswagen Stiftung (VW II/85 158 to M.S.).

Conflict of Interest

The authors have no conflict of interest to disclose.

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Authors and Affiliations

  1. Division of Neuropsychology, Hertie-Institute for Clinical Brain Research, Centre for Integrative Neuroscience, Eberhard Karls University, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany

    Svenja Borchers, Elizabeth Kiely & Marc Himmelbach

  2. Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany

    Matthis Synofzik

  3. German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany

    Matthis Synofzik

Authors
  1. Svenja Borchers
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  2. Matthis Synofzik
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  4. Marc Himmelbach
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Correspondence to Marc Himmelbach.

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Borchers, S., Synofzik, M., Kiely, E. et al. Routine Clinical Testing Underestimates Proprioceptive Deficits in Friedreich’s Ataxia. Cerebellum 12, 916–922 (2013). https://doi.org/10.1007/s12311-013-0508-5

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