Motor decline in clinically presymptomatic spinocerebellar ataxia type 2 gene carriers - PubMed (original) (raw)

Motor decline in clinically presymptomatic spinocerebellar ataxia type 2 gene carriers

Luis Velázquez-Perez et al. PLoS One. 2009.

Abstract

Background: Motor deficits are a critical component of the clinical characteristics of patients with spinocerebellar ataxia type 2. However, there is no current information on the preclinical manifestation of those motor deficits in presymptomatic gene carriers. To further understand and characterize the onset of the clinical manifestation in this disease, we tested presymptomatic spinocerebellar ataxia type 2 gene carriers, and volunteers, in a task that evaluates their motor performance and their motor learning capabilities.

Methods and findings: 28 presymptomatic spinocerebellar ataxia type 2 gene carriers and an equal number of control volunteers matched for age and gender participated in the study. Both groups were tested in a prism adaptation task known to be sensible to both motor performance and visuomotor learning deficits. Our results clearly show that although motor learning capabilities are intact, motor performance deficits are present even years before the clinical manifestation of the disease start.

Conclusions: The results show a clear deficit in motor performance that can be detected years before the clinical onset of the disease. This motor performance deficit appears before any motor learning or clinical manifestations of the disease. These observations identify the performance coefficient as an objective and quantitative physiological biomarker that could be useful to assess the efficiency of different therapeutic agents.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1

Figure 1. Motor performance coefficient of the control (black) and the pre-SCA2 (grey) groups.

Error bars are SEM. * = p<0.01.

Figure 2

Figure 2. Adaptation, aftereffect, and trial-by-trial distance to target.

(A) Adaptation (left) and aftereffect (AE) (right) distance measures for the control (black) and the pre-SCA2 (grey) groups. (B) Trial-by-trial distance to target in PRE, PRISM, and POS conditions for the control (black) and the pre-SCA2 (grey) groups. Error bars are SEM. Note the lack of differences between groups in A and B.

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