Cerebellar cognitive affective syndrome in patients with spinocerebellar ataxia type 10

Abstract

Background Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant cerebellar ataxia, characterized by epilepsy, ataxic symptoms, and cognitive impairments linked to Cerebellar Cognitive Affective Syndrome (CCAS). The Cerebellar Cognitive Affective Syndrome Scale (CCAS-S) has been developed to identify CCAS across various cerebellar pathologies. Objective To determine whether patients with SCA10 exhibit CCAS using the CCAS-S, and to compare its effectiveness with the Montreal Cognitive Assessment (MoCA). A secondary objective was to evaluate the effect of demographic and clinical data on CCAS-S performance. Method Fifteen patients with SCA10 and fifteen matched controls underwent assessments using the CCAS-S, the MoCA, the Scale for the Assessment and Rating of Ataxia (SARA), and the Center for Epidemiologic Studies Depression Scale (CES-D). Diagnostic accuracy was analyzed using ROC curve analysis, comparing total and subcategory scores between groups. Demographic and clinical data were examined for relations with CCAS-S scores. Results The CCAS-S effectively distinguished cognitive impairments in SCA10 patients, showing satisfactory sensitivity and specificity (AUC of 0.83). Although no significant differences were found in the AUCs between CCAS-S and MoCA (p =  0.45), the CCAS-S demonstrated a significantly larger effect size in the comparison between patients and control group (d =  2.33). Cognitive performance was poorer in patients than in controls (p =  < 0.001), with depressive symptoms and age having a significant impact on CCAS-S outcomes. Conclusions Patients with the SCA10 mutation exhibit CCAS. Besides the significant cognitive impairment, also detected by MoCA, the CCAS-S score was significantly affected by indicators of depressive mood and age, highlighting the importance of considering these variables during outcome analyses.