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
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
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Original abstract
Abstract Background Neuropsychological deficits have been observed in patients with cerebellar damage, but never thoroughly investigated in autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS). Objectives The goal is the characterization of presence, severity, and profile of neuropsychological deficits in ARSACS using the cerebellar cognitive‐affective syndrome (CCAS) scale. Methods 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). Results 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). Conclusions 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.