Funding agencies: This work was supported by the National Institutes of Health (U54NS065736 to Horacio Kaufmann and Lucy J. Norcliffe-Kaufmann) and the Dysautonomia Foundation, Inc. (to Felicia B. Axelrod and Horacio Kaufmann).
Relationship between proprioception at the knee joint and gait ataxia in HSAN III
Article first published online: 16 MAY 2013
Copyright © 2013 Movement Disorder Society
Volume 28, Issue 6, pages 823–827, June 2013
How to Cite
Macefield, V. G., Norcliffe-Kaufmann, L. J., Axelrod, F. B. and Kaufmann, H. (2013), Relationship between proprioception at the knee joint and gait ataxia in HSAN III. Mov. Disord., 28: 823–827. doi: 10.1002/mds.25482
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.
- Issue published online: 25 JUN 2013
- Article first published online: 16 MAY 2013
- Manuscript Accepted: 10 MAR 2013
- Manuscript Revised: 13 FEB 2013
- Manuscript Received: 10 AUG 2012
- congenital insensitivity to pain;
- familial dysautonomia;
- joint sense;
- hereditary sensory and autonomic neuropathy;
- muscle spindles;
- Riley–Day syndrome
Hereditary sensory and autonomic neuropathy type III features marked ataxic gait that progressively worsens over time. We assessed whether proprioceptive disturbances can explain the ataxia.
Proprioception at the knee joint was assessed using passive joint angle matching in 18 patients and 14 age-matched controls; 5 patients with cerebellar ataxia were also studied. Ataxia was quantified using the Brief Ataxia Rating Score, which ranged from 7 to 26 of 30.
Neuropathy patients performed poorly in judging joint position: mean absolute error was 8.7° ± 1.0°, and the range was very wide (2.8°–18.1°); conversely, absolute error was only 2.7° ± 0.3° (1.6°–5.5°) in the controls and 3.0° ± 0.2° (2.1°–3.4°) in the cerebellar patients. This error was positively correlated to the degree of ataxia in the neuropathy patients but not the cerebellar patients.
These results suggest that poor proprioceptive acuity at the knee joint is a major contributor to the ataxic gait associated with hereditary sensory and autonomic neuropathy type III. © 2013 Movement Disorder Society