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Neurology. 2018 Oct 2;91(14):e1307-e1311. doi: 10.1212/WNL.0000000000006290. Epub 2018 Aug 29.

An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up.

Author information

1
From the Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (C.G., I.L., R.S.-G), Centre de recherche Charles-Le Moyne-Saguenay-Lac-Saint-Jean, Faculté de médecine et des sciences de la santé, Université de Sherbrooke; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (C.L., I.C., J.M.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean; and Montreal Neurological Institute (B.B.), McGill University, Québec, Canada. cynthia.gagnon4@usherbrooke.ca.
2
From the Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (C.G., I.L., R.S.-G), Centre de recherche Charles-Le Moyne-Saguenay-Lac-Saint-Jean, Faculté de médecine et des sciences de la santé, Université de Sherbrooke; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (C.L., I.C., J.M.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean; and Montreal Neurological Institute (B.B.), McGill University, Québec, Canada.

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.

PMID:
30158165
PMCID:
PMC6177270
DOI:
10.1212/WNL.0000000000006290
[Indexed for MEDLINE]
Free PMC Article

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