ArticleMovement disorders : official journal of the Movement Disorder Society2026
The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study.
Julie Fortin, Matthis Synofzik, Élyse-Anne Pedneault-Tremblay, Dominik Hermle, Andreas Thieme, Dagmar Timmann, Roberta La Piana, Bernard Brais, Justine Dolbec, Isabelle Côté and 2 more
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5 · Who and what moneyAuthors and funding
12 authors.
Julie FortinGroupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-St-Jean, Hôpital de Jonquière, Saguenay, Québec, Canada.ORCID https://orcid.org/0000-0003-1957-8518 Matthis SynofzikDivision Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.ORCID https://orcid.org/0000-0002-2280-7273 Élyse-Anne Pedneault-TremblayGroupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-St-Jean, Hôpital de Jonquière, Saguenay, Québec, Canada.ORCID https://orcid.org/0009-0001-4612-9008 Dominik HermleDivision Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.ORCID https://orcid.org/0009-0006-3266-2203 Andreas ThiemeDepartment of Neurology and Center for Translational Neuro- and Behavioral StudiesSciences (C-TNBS), Essen University Hospital Essen, University of Duisburg-Essen, Essen, Germany.ORCID https://orcid.org/0000-0001-6221-8601 Dagmar TimmannDepartment of Neurology and Center for Translational Neuro- and Behavioral StudiesSciences (C-TNBS), Essen University Hospital Essen, University of Duisburg-Essen, Essen, Germany.ORCID https://orcid.org/0000-0003-1935-416X Justine DolbecGroupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-St-Jean, Hôpital de Jonquière, Saguenay, Québec, Canada.
Isabelle CôtéGroupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-St-Jean, Hôpital de Jonquière, Saguenay, Québec, Canada.ORCID https://orcid.org/0000-0002-8360-9086 Cynthia GagnonGroupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-St-Jean, Hôpital de Jonquière, Saguenay, Québec, Canada.ORCID https://orcid.org/0000-0003-2829-8470 Andreas TraschützDivision Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.ORCID https://orcid.org/0000-0002-8165-5898 Funding
Clinician Scientist program "PRECISE.net"Consortium international, including the Canadian Institutes of Health Research, Ataxia Charlevoix-Saguenay Foundation and Muscular Dystrophy CanadaEJP RD consortium TREAT-ARCA 01GM2005European Joint Programme on Rare Diseases 825575European Union, project European Rare Disease Research Alliance (ERDERA) 101156595HORIZON-HLTH-2023-DISEASE-07
6 · The paper itselfAbstract
backgroundNeuropsychological deficits have been observed in patients with cerebellar damage, but never thoroughly investigated in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
objectivesThe goal is the characterization of presence, severity, and profile of neuropsychological deficits in ARSACS using the cerebellar cognitive-affective syndrome (CCAS) scale.
methodsProspective study including a discovery cohort from Saguenay/Canada (n = 31, median [inter-quartile range] age: 57 [54-62] years), and a validation cohort from Tübingen, Germany (n = 17, 35 [21-43] years) with matched controls (n = 19).
resultsAll ARSACS patients failed in multiple CCAS-related subtests and exceeded cutoffs for "definite CCAS." Even the younger validation cohort failed more subtests than controls (5 [3-7] vs. 1 [1-2], P < 0.001) and had lower CCAS total scores (81 [67-86] vs. 101 [91-106], P < 0.001). Total scores worsened in the older discovery cohort (40 [25-52], P < 0.001) and correlated with age/disease duration (ρ = -0.575, P < 0.001) and ataxia severity (Scale for the Assessment and Rating of Ataxia: ρ = -0.527, P = 0.003).
conclusionsNeuropsychological deficits consistent with CCAS are consistent in ARSACS, present early, and progress in the disease course. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Indexed as
Cerebellar Cognitive Affective SyndromeMuscle SpasticitySpinocerebellar AtaxiasAdultCross-Sectional StudiesDisease ProgressionFemaleHumansMaleMiddle AgedNeuropsychological TestsProspective StudiesSeverity of Illness IndexYoung Adultcerebellar cognitive‐affective syndromecognitionmovement disordersneuropsychologyspastic ataxia of Charlevoix‐Saguenay
Identifiers
PMID41669957
PMCPMC13067325
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