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The Cerebellum

, Volume 12, Issue 6, pp 916–922 | Cite as

Routine Clinical Testing Underestimates Proprioceptive Deficits in Friedreich’s Ataxia

  • Svenja Borchers
  • Matthis Synofzik
  • Elizabeth Kiely
  • Marc HimmelbachEmail author
Original Paper

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.

Keywords

Proprioception Position sense Friedreich’s ataxia Diagnosis Kinaesthesia 

Notes

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.

Supplementary material

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ESM 1 (DOCX 2563 kb)

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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Svenja Borchers
    • 1
  • Matthis Synofzik
    • 2
    • 3
  • Elizabeth Kiely
    • 1
  • Marc Himmelbach
    • 1
    Email author
  1. 1.Division of Neuropsychology, Hertie-Institute for Clinical Brain Research, Centre for Integrative NeuroscienceEberhard Karls UniversityTübingenGermany
  2. 2.Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain ResearchUniversity of TübingenTübingenGermany
  3. 3.German Research Center for Neurodegenerative Diseases (DZNE)University of TübingenTübingenGermany

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