Clinical Autonomic Research, 2018, Vol.28(3), pp.341-346
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10286-018-0504-4 Byline: Elisabetta Indelicato (1), Alessandra Fanciulli (1), Jean Pierre Ndayisaba (1), Wolfgang Nachbauer (1), Roberta Granata (1), Julia Wanschitz (1), Michaela Wagner (2,3), Elke R. Gizewski (2,3), Werner Poewe (1), Gregor K. Wenning (1), Sylvia Boesch (1) Keywords: Spinocerebellar ataxia type 2; Olivo-ponto-cerebellar atrophy; Cardiovascular autonomic function testing; Orthostatic hypotension; Skin sympathetic reflex 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. Author Affiliation: (1) 0000 0000 8853 2677, grid.5361.1, Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria (2) 0000 0000 8853 2677, grid.5361.1, Department of Neuroradiology, Innsbruck Medical University, Innsbruck, Austria (3) 0000 0000 8853 2677, grid.5361.1, Neuroimaging Research Core Facility, Innsbruck Medical University, Innsbruck, Austria Article History: Registration Date: 16/01/2018 Received Date: 15/11/2017 Accepted Date: 16/01/2018 Online Date: 12/02/2018 Article note: Elisabetta Indelicato and Alessandra Fanciulli share first authorship. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10286-018-0504-4) contains supplementary material, which is available to authorized users.
Spinocerebellar ataxia type 2 ; Olivo-ponto-cerebellar atrophy ; Cardiovascular autonomic function testing ; Orthostatic hypotension ; Skin sympathetic reflex
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