Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2.

Abstract

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant degenerative disease. Pathological studies have demonstrated not only cerebellar and brainstem atrophy, but substantia nigra, motoneurons, basal ganglia, thalamus, and peripheral nerves involvement. These findings may explain non-motor and extra-cerebellar features in SCA2. We accessed the non-motor symptoms and extra-cerebellar signs in SCA2 patients in order to provide a better understanding on pathophysiological mechanisms and natural history of brain degeneration in the disease. Thirty-three SCA2 patients were evaluated and compared with 26 healthy subjects. We investigated the following variables: sleep disorders, cognitive deficit, olfactory impairment, urinary dysfunction, psychiatric symptoms, cramps, pain, movement disorders, and weight loss. SCA2 had a high frequency of REM sleep behavior disorder (48.48%, N = 16) as well as excessive daytime sleepiness (42.42%, N = 14). Chorea was present in 15.15% (N = 5), dystonia in 27.27% (N = 9), and parkinsonism in 27.27% (N = 9). Slow saccadic pursuit was present in 87.87% (N = 29) and ophtalmoparesis in 78.78% (N = 26) of patients. Regarding sleep disorders, 18.18% (N = 6) of patients had restless leg syndrome. Dysphagia was present in 39.39% (N = 13), weight loss 24.24% (N = 8), and urinary dysfunction 27.27% (N = 9). Cramps was present in only 6% of patients (N = 2). This study highlighted the high frequency of non-motor symptoms and extra-cerebellar signs in SCA2. Our findings demonstrate the widespread of nervous system involvement in SCA2 patients and contribute to better understand the natural history of brain degeneration in this genetic condition.