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Cerebellar cognitive affective syndrome in Friedreich ataxia: causes and consequences

Paul Arya

With a pattern of impairment that falls under the cerebellar cognitive affective syndrome, people with Friedreich Ataxia (FRDA) exhibit significantly lower performances in many cognitive domains. Using multiple variable regression models, determine the primary predictor of the CCAS in a large cohort of people with FRDA. 39 FRDA patients participated in this monocentric observational study. The SARA was used to assess ataxic motor symptoms, and the CCAS-Scale was used to assess cognitive abilities (CCAS-S). Age, SARA, GAA1, Age of onset of Symptoms (ASO), Age, and Disease Duration (DD) were selected as covariates in a logistic regression model to predict CCAS-S failed items, a linear regression model using CCAS and covariates is used. Patients' median ages, SARA scores, ASO, DD, and GAA1 scores were 29.14, 22.10, 14.11, 15.9, and 712.238, respectively (4 point-mutations). The average CCAS-S raw score was 86/16, with an average of 2.9/1.6 failed items. There were 23 people with definite CCAS. This result justifies screening for CCAS, especially in patients with SARA>20, and supports the idea that cognitive and motor symptoms in FRDA share a common core cerebellar pathophysiology.

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