Autonomic symptoms in patients and pre-manifest mutation carriers of Huntington's disease

• Published in: European journal of neurology Vol. 17; no. 8; pp. 1068 - 1074
• Main Authors: Aziz, N. A., Anguelova, G. V., Marinus, J., Van Dijk, J. G., Roos, R. A. C.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-08-2010; John Wiley & Sons, Inc
• Subjects: Adult; Analysis of Variance; autonomic nervous system; Autonomic Nervous System - physiopathology; Autonomic Nervous System Diseases - complications; Autonomic Nervous System Diseases - diagnosis; Autonomic Nervous System Diseases - physiopathology; Clinical outcomes; depression; Depression - complications; Depression - physiopathology; Depression - psychology; disability; Disease Progression; Female; Hormone replacement therapy; Humans; Huntington Disease - complications; Huntington Disease - physiopathology; Huntington Disease - psychology; Huntington's disease; Huntingtons disease; Male; Middle Aged; Mutation; Neuropsychological Tests; Patient Selection; pre-manifest mutation carrier; Severity of Illness Index; Surveys and Questionnaires; symptoms and signs
• ISSN: 1351-5101; 1468-1331
• DOI: 10.1111/j.1468-1331.2010.02973.x

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.