Journal Article

DZNE-2026-00375

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png 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.

Fortin, J. ; Synofzik, M.DZNE* ; Pedneault-Tremblay, É.-A. ; Hermle, D. ; Thieme, A. ; Timmann, D. ; La Piana, R. ; Brais, B. ; Dolbec, J. ; Côté, I. ; Gagnon, C. ; Traschütz, A. (Last author)DZNE*

2026
Wiley New York, NY

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Please use a persistent id in citations: doi:10.1002/mds.70201

Abstract: Neuropsychological deficits have been observed in patients with cerebellar damage, but never thoroughly investigated in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).The goal is the characterization of presence, severity, and profile of neuropsychological deficits in ARSACS using the cerebellar cognitive-affective syndrome (CCAS) scale.Prospective 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).All 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).Neuropsychological 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.

Keyword(s): Humans (MeSH) ; Female (MeSH) ; Male (MeSH) ; Spinocerebellar Ataxias: complications (MeSH) ; Spinocerebellar Ataxias: congenital (MeSH) ; Spinocerebellar Ataxias: physiopathology (MeSH) ; Middle Aged (MeSH) ; Adult (MeSH) ; Muscle Spasticity: complications (MeSH) ; Muscle Spasticity: physiopathology (MeSH) ; Cross-Sectional Studies (MeSH) ; Neuropsychological Tests (MeSH) ; Young Adult (MeSH) ; Prospective Studies (MeSH) ; Severity of Illness Index (MeSH) ; Cognition Disorders: etiology (MeSH) ; Cognition Disorders: diagnosis (MeSH) ; Disease Progression (MeSH) ; Cognitive Dysfunction: etiology (MeSH) ; cerebellar cognitive‐affective syndrome ; cognition ; movement disorders ; neuropsychology ; spastic ataxia of Charlevoix‐Saguenay

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Contributing Institute(s):

1. Parkinson Genetics (AG Gasser)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2026

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Database coverage:
; ; ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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