Title |
Autonomic function testing in spinocerebellar ataxia type 2
|
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Published in |
Clinical Autonomic Research, February 2018
|
DOI | 10.1007/s10286-018-0504-4 |
Pubmed ID | |
Authors |
Elisabetta Indelicato, Alessandra Fanciulli, Jean Pierre Ndayisaba, Wolfgang Nachbauer, Roberta Granata, Julia Wanschitz, Michaela Wagner, Elke R. Gizewski, Werner Poewe, Gregor K. Wenning, Sylvia Boesch |
Abstract |
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. 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. 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. 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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Argentina | 1 | 33% |
United States | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
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Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Members of the public | 1 | 33% |
Science communicators (journalists, bloggers, editors) | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 25 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 7 | 28% |
Lecturer | 3 | 12% |
Student > Postgraduate | 3 | 12% |
Professor > Associate Professor | 3 | 12% |
Student > Master | 2 | 8% |
Other | 4 | 16% |
Unknown | 3 | 12% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 8 | 32% |
Biochemistry, Genetics and Molecular Biology | 3 | 12% |
Neuroscience | 2 | 8% |
Unspecified | 1 | 4% |
Agricultural and Biological Sciences | 1 | 4% |
Other | 3 | 12% |
Unknown | 7 | 28% |