Autonomic function testing in spinocerebellar ataxia type 2.

ABSTRACT: PURPOSE:To assess whether autonomic failure belongs to the clinical spectrum of spinocerebellar ataxia type 2 (SCA2), an autosomal dominant genetic disorder showing progressive cerebellar and brainstem dysfunction. METHODS:We evaluated cardiovascular autonomic function in 8 patients with SCA2 and 16 age- and gender-matched healthy controls. Other autonomic domains were examined through standardized questionnaires and by testing the skin sympathetic reflex. RESULTS:Patients with SCA2 showed normal responses to cardiovascular autonomic function tests, with the exception of lower baroreflex sensitivity upon standing compared to controls. In questionnaires, 7 out of 8 patients reported bladder disturbances, while 3 out of 6 tested patients had no skin sympathetic reflex. CONCLUSIONS:We did not observe clinically overt cardiovascular autonomic failure in patients with SCA2. Other autonomic domains (i.e., bladder and sudomotor function) may be affected in the disease.

SUBMITTER: Indelicato E 

PROVIDER: S-EPMC5995979 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature