Cognitive and Psychiatric Manifestations of Spinocerebellar Ataxia: Impact on Quality of Life

Abstract

Spinocerebellar ataxia (SCA) is a relatively rare subset of Cerebellar Ataxia disease and inherited disease due to an autosomal dominant mutation. This results in a progressive neurodegeneration of the cerebellum, leading to a variety of health factors such as (but not limited to) saccadic visual pursuit, coordination alterations, hyperreflexia, weakness of extremities and more. These symptoms of disease vary between individuals and types of ataxia with more than 40 known forms of spinocerebellar ataxia. The effects of SCA are not only limited to physiological effects but also include cognitive and psychiatric impairments that impact quality of life (QoL). While often overlooked, the cognitive and psychiatric manifestations of SCA are essential parts of delivering comprehensive care to patients. Neuroimaging studies showed functional and structural changes in brain regions beyond the cerebellum to include the frontal and temporal lobes, which may contribute to these manifestations. Additionally, genetic factors and disease-specific pathophysiological mechanisms may underlie the observed cognitive and psychiatric profiles in SCA. The article presents an overview of the cognitive deficits and highlights the complex interplay between these manifestations, disease progression, and the overall well-being of patients. The article underscores the need for comprehensive assessment, early detection, and multidisciplinary interventions to improve the QoL of individuals living with SCA.