Disautonomic features in presyntomatic subjects and patients with type 2 spinocerebellar ataxia

Background: Patients with type 2 spinocerebellar ataxias (E-SCA2) frequently complaint about symptoms of the autonomous nervous system (ANS). Nowadays, it is not clear if these patients present abnormalities in the regulation of the ANS during the presymptomatic stage of the disease (PS-SCA2). Objective: To determine the presence of autonomic dysfunction in E-SCA2 and PS-SCA2. We hypothesized that the rate of autonomic symptoms in carriers of the SCA2-gene mutation is higher than in healthy control subjects. Patients and methods: Ninety seven E-SCA2 and forty eight PS-SCA2 genetically diagnosed patients were assessed using the standardized clinical autonomic Scale for Outcomes in Parkinson's disease (SCOPA-AUT). The markers were compared with healthy subjects, similar in age and sex. Results: The patients and PS-SCA2 showed an increase in the rate and severity of the disautonomic symptoms than those of the control group, predominating symptoms related to the urinary (39.7%) and gastrointestinal (30.6%) system; where constipation (19.3%) and pollakiunia (17.7%) were frequent in PS-SCA2 and pollakiunia (19%), nicturia (12.7%) and dysphagia (12.1%) in E-SCA2 group. No symptoms were reported by 23 (47.9%) PSSCA2 and 32 (33%) E-SCA2. A weak but significant correlation (< 0.35) were found between the total score of SCOPA-AUT and CAG, the motor scale (ICARS) and illness duration. Conclusion: The carries of the SCA2gen mutation shows progressive symptoms from the presymptomatic stage. This is the first report that shows clinical autonomic dysfunction in PS-SCA2 subjects.