Non-motor Symptoms in Patients with Autosomal dominant Spinocerebellar Ataxia

Objective: The non-motor manifestations of motor predominant disorders has been area of active interest in recent times. The objective of the study was to determine the prevalence of non-motor symptoms in patients with genetically confirmed spinocerebellar ataxia (SCA).

Materials and methods: Forty-one patients of SCA and 48 age, gender and education matched controls were included. The severity of ataxia was evaluated using the international cooperative ataxia rating scale (ICARS) and cognitive impairment using a neuropsychological battery. Non-motor features was assessed using standardized scales (HAM-A, HAM-D, Modified fatigue severity scale, RLS questionnaire, ESS, PSQI, WHOQOL, RBDSQ and BPI). The data was compared with controls and correlated with the severity of ataxia.

Results: There were 17 SCA-1, 14 SCA-2, 10 SCA-3 patients. The mean age of presentation was 35.7±7.9 years for SCA1, 31.1±7.9 years for SCA2 and 30.5±9.5 years for SCA3 patients. Neuropsychological evaluation showed severe impairment of attention, executive functions, visuospatial, motor speed, response speed and memory. The severity of ataxia was more for SCA 2 patients (ICARS of 39.5±24.4). Ataxia severity correlated with MMSE, fatigue scale, depression scale and REM sleep behavior disorder in SCA 1 individuals and global cognition, fatigue, anxiety and depression scales, RLS in SCA 3 patients. All patients reported quality of life as dissatisfied. These patients also had sleep disturbances in form of RBD, RLS and EDS.

Conclusions: In addition to the motor symptoms, patients with SCA have several non-motor symptoms that impair the quality of life.

Keywords: Cognition; Neuropsychology; Non-motor symptoms; Quality of life; Spinocerebellar ataxia.