Subclinical motor dysfunction in Spinocerebellar Ataxias: a study based on inertial motion sensors
Keywords:
Spinocerebellar ataxias, polyglutamine disorders, subclinical stage, gait quantification, postural disturbances, biomarkersAbstract
Introduction: Technological development is an essential feature of the 21st century with a significant impact on neurodegenerative diseases where the identification of preclinical biomarkers is a challenge.
Objective: To identify preclinical biomarkers of gait disturbances in Spinocerebellar Ataxias, as well as to evaluate the progression patterns of prodromal gait disturbances.
Methods: A first cross-sectional study included 72 asymptomatic subjects carrying Spinocerebellar Ataxias types 1, 2, 3 and 6 mutations and 96 healthy controls. Of these, 27 subjects with spinocerebellar ataxia type 2 were studied longitudinally for 5 years. All subjects underwent gait cycle assessment using an automated system based on inertial sensors and clinical assessment using the Scale for Assessment and Rating of Ataxia.
Results: The quantitative analysis of the natural gait showed an increase in variability in the parameters swing period, foot take-off angle and lateral deviation, axial movement ranges of the trunk and lumbar region. These alterations increased during tandem gait. A significant increase in these variables was demonstrated in the longitudinal study for cases with the SCA2 mutation, as an expression of an increase in cerebellar degeneration from the preclinical stages of the disease. As a distinctive element, a statistically significant correlation was evidenced between the variability of these parameters with the clinical assessment, performed through the Scale for Assessment and Rating of Ataxia scale of these quantitative parameters.
Conclusions: There are preclinical alterations of gait, which is the initial clinical sign of the disease, suggesting that cerebellar syndrome has a subclinical stage, which is difficult to identify by standard clinical neurological examination. These parameters constitute new preclinical and progression biomarkers. Such subclinical abnormalities precede the onset of typical cerebellar syndrome by approximately 11.33 years and are sensitive biomarkers for the evaluation of clinical trial efficacy.
Downloads
Published
How to Cite
Issue
Section
License
The journal Anales de la Academia de Ciencias de Cuba protects copyright, and operates with a Creative Commons License 4.0 (Creative Commons Attribution-NonCommercial License 4.0). By publishing in it, authors allow themselves to copy, reproduce, distribute, publicly communicate their work and generate derivative works, as long as the original author is cited and acknowledged. They do not allow, however, the use of the original work for commercial or lucrative purposes.
The authors authorize the publication of their writings, retaining the authorship rights, and assigning and transferring to the magazine all the rights protected by the intellectual property laws that govern in Cuba, which imply editing to disseminate the work.
Authors may establish additional agreements for the non-exclusive distribution of the version of the work published in the journal (for example, placing it in an institutional repository or publishing it in a book), with recognition of having been first published in this journal.
To learn more, see https://creativecommons.org
