Cynthia Gagnon1, Isabelle Lessard2, Caroline Lavoie2, Isabelle Côté2, Raphaël St-Gelais2, Jean Mathieu2, Bernard Brais2. 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.
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.
Authors: J C Engert; P Bérubé; J Mercier; C Doré; P Lepage; B Ge; J P Bouchard; J Mathieu; S B Melançon; M Schalling; E S Lander; K Morgan; T J Hudson; A Richter Journal: Nat Genet Date: 2000-02 Impact factor: 38.330
Authors: Cynthia Gagnon; Olivier Lambercy; Christoph M Kanzler; Isabelle Lessard; Roger Gassert; Bernard Brais Journal: Ann Clin Transl Neurol Date: 2022-02-27 Impact factor: 4.511
Authors: Andreas Traschütz; Tommaso Schirinzi; Lucia Laugwitz; Nathan H Murray; Craig A Bingman; Selina Reich; Jan Kern; Anna Heinzmann; Gessica Vasco; Enrico Bertini; Ginevra Zanni; Alexandra Durr; Stefania Magri; Franco Taroni; Alessandro Malandrini; Jonathan Baets; Peter de Jonghe; Willem de Ridder; Matthieu Bereau; Stephanie Demuth; Christos Ganos; A Nazli Basak; Hasmet Hanagasi; Semra Hiz Kurul; Benjamin Bender; Ludger Schöls; Ute Grasshoff; Thomas Klopstock; Rita Horvath; Bart van de Warrenburg; Lydie Burglen; Christelle Rougeot; Claire Ewenczyk; Michel Koenig; Filippo M Santorelli; Mathieu Anheim; Renato P Munhoz; Tobias Haack; Felix Distelmaier; David J Pagliarini; Hélène Puccio; Matthis Synofzik Journal: Ann Neurol Date: 2020-06-10 Impact factor: 11.274