An exploratory natural history of ataxia of Charlevoix-Saguenay
A 2-year follow-up
Abstract
Objective
To document the decline of upper and lower limb functions, mobility, and independence in daily living activities in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) over a 2-year period.
Methods
An exploratory longitudinal design was used. Nineteen participants were assessed on 2 occasions 2 years apart. Assessments included the Standardized Finger Nose Test, Nine-Hole Peg Test, Lower Extremity Motor Coordination Test, Berg Balance Scale, 10-m walk test (10mWT), 6-minute walk test (6MWT), Scale for the Assessment and Rating of Ataxia (SARA), and Barthel Index.
Results
A significant decline was observed between baseline and follow-up for lower limb coordination, balance, walking abilities (10mWT and 6MWT), and overall disease severity (SARA). All differences were beyond measurement error documented in ARSACS. Results showed no significant decline for upper limb coordination and fine dexterity performance.
Conclusion
Although ARSACS is a slow, progressive disease, results showed that mobility, balance, and lower limb performance significantly decreased over the 2-year period and that selected outcome measures were able to capture this decline beyond measurement errors.
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Publication history
Received by Neurology March 27, 2018. Accepted in final form July 4, 2018.
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Copyright
© 2018 American Academy of Neurology.
Publication History
Received: March 27, 2018
Accepted: July 4, 2018
Published online: August 29, 2018
Published in print: October 2, 2018
Disclosure
The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.
Study Funding
Funded by the Canadian Institutes of Health Research in partnership with Fondation de l'Ataxie Charlevoix-Saguenay (Emerging Team Grant TR2-119189). C.G. holds career-grant funding from Fonds de recherche du Québec–santé (grants 22193 and 31011).
Authors
Author Contributions
Cynthia Gagnon: study concept and design, study supervision, analysis and interpretation of data. Isabelle Lessard: acquisition, analysis and interpretation of data, writing of the manuscript. Caroline Lavoie: acquisition of data, review of the manuscript. Isabelle Côté: analysis of data, statistical analysis, writing of the manuscript. Raphaël St-Gelais: interpretation of data, writing of the manuscript. Jean Mathieu and Bernard Brais: study concept and design, critical revision of manuscript for intellectual content.
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Cited By
- Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS), The AAPS Journal, 26, 3, (2024).https://doi.org/10.1208/s12248-024-00925-7
- A juvenile-onset case of autosomal recessive spastic ataxia of charlevoix–saguenay with a novel mutation in the SACS gene, Annals of Movement Disorders, 6, 1, (36-38), (2023).https://doi.org/10.4103/aomd.aomd_15_22
- Digital health metrics reveal upper limb impairment profiles in ARSACS, Journal of the Neurological Sciences, 448, (120621), (2023).https://doi.org/10.1016/j.jns.2023.120621
- Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study, The Cerebellum, 23, 4, (1377-1385), (2023).https://doi.org/10.1007/s12311-023-01646-x
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- Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients, Annals of Neurology, 94, 3, (470-485), (2023).https://doi.org/10.1002/ana.26712
- Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome, Orphanet Journal of Rare Diseases, 17, 1, (2022).https://doi.org/10.1186/s13023-022-02497-1
- Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay, Canadian Journal of Occupational Therapy, 89, 3, (315-325), (2022).https://doi.org/10.1177/00084174221088417
- First report of spastic ataxia of Charlevoix-Saguenay cases in Mexico. Novel SACS gene mutations identified, Neurology Perspectives, 2, 4, (214-223), (2022).https://doi.org/10.1016/j.neurop.2022.07.002
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