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.
Fortin et al. (Wed,) studied this question.
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