Autonomic symptoms in patients and pre-manifest mutation carriers of Huntington’s disease
Article first published online: 24 FEB 2010
© 2010 The Author(s). Journal compilation © 2010 EFNS
European Journal of Neurology
Volume 17, Issue 8, pages 1068–1074, August 2010
How to Cite
Aziz, N. A., Anguelova, G. V., Marinus, J., Van Dijk, J. G. and Roos, R. A. C. (2010), Autonomic symptoms in patients and pre-manifest mutation carriers of Huntington’s disease. European Journal of Neurology, 17: 1068–1074. doi: 10.1111/j.1468-1331.2010.02973.x
- Issue published online: 13 JUL 2010
- Article first published online: 24 FEB 2010
- Received 8 October 2009 Accepted 7 January 2010
- autonomic nervous system;
- Huntington’s disease;
- pre-manifest mutation carrier;
- symptoms and signs
Background and purpose: Although autonomic function tests have revealed abnormalities of the autonomic nervous system in Huntington’s disease (HD), autonomic symptoms and their association with other symptoms and signs of HD have not yet been assessed in large groups of patients or pre-manifest mutation carriers. Therefore, we aimed at delineating the characteristics and correlates of autonomic symptoms in HD.
Methods: Using the scales for outcomes in Parkinson’s disease-autonomic symptoms (SCOPA-AUT) and Beck Depression Inventory questionnaires, autonomic symptoms and depressed mood were assessed in 63 patients with HD, 21 pre-manifest mutation carriers, and 85 controls. The Unified Huntington’s Disease Rating Scale was used to assess other HD symptoms and signs.
Results: Relative to controls, patients with HD experienced significantly more gastrointestinal, urinary, cardiovascular and, in men, sexual problems. The most prevalent symptoms were swallowing difficulties, erection and ejaculation problems, dysphagia, sialorrhea, early abdominal fullness, straining for defecation, fecal and urinary incontinence, urgency, incomplete bladder emptying, and light-headedness whilst standing. Pre-manifest mutation carriers experienced significantly more swallowing difficulties and light-headedness on standing up compared with controls. In patients with HD, autonomic symptoms were associated with a greater degree of functional disability, more severe depression, and antidepressant drugs use. However, depression was the only independent predictor of autonomic dysfunction.
Conclusions: Autonomic symptoms are highly prevalent in patients with HD and may even precede the onset of motor signs. Moreover, autonomic dysfunction is related to functional disability and depression in HD.