Objective: To characterize dysautonomia-related symptoms in Huntington’s disease (HD) gene expansion carriers (HDGECs).

Background: Autonomic nervous system (ANS) dysfunction is a recognized feature of HD with a particular emphasis on cardiovascular symptoms. However, compared to diseases such as  synucleinopathies, dysautonomia in HD remains understudied. Previous research has relied on scales adapted from PD (i.e., SCOPA-AUT). Studying dysautonomia may reveal its links to cognitive decline, functionality, weight loss, and other HD symptoms. We used COMPASS-31, a self-administered scale applied in different neurological conditions that evaluates multiple ANS domains, including orthostatic hypotension, vasomotor, secretomotor, gastrointestinal, bladder, and pupillomotor functions.

Method: This cross-sectional study aims to enroll 100 participants. HDGECs aged >18 years from the Huntington’s Disease Society of America (HDSA) Center of Excellence at UTHealth Houston are invited to participate. Exclusion criteria included use of medications affecting the ANS, history of diabetes or cardiovascular disease (i.e., arrhythmias or heart failure), uncontrolled thyroid disorders, recent large meals (within 2 hours), or use of cigarettes, caffeine, or alcohol within 24 hours prior to testing. Clinical assessments included the Unified Huntington’s Disease Rating Scale (UHDRS) Total Motor Score (TMS) and Total Functional Capacity (TFC), the Montreal Cognitive Assessment (MoCA), the COMPASS-31, and measures of temperature, resting and standing blood pressure (BP), and heart rate (HR). Descriptive statistics, including means and standard deviation, are reported.

Results: Eight HDGECs (3 females, 5 males) with a mean age of 49.75 ± 13.64 years and a mean CAG repeat length of 42.87 ± 2.53 were included. The mean UHDRS TMS and TFC scores were 25.87 ± 21.20 and 10.25 ± 3.49, respectively. COMPASS-31 scores indicated moderate dysautonomia (20-40/100) in 3 participants, with a mean total score of 15 ± 12.44 for the group. The most affected domains were gastrointestinal, pupillomotor, and orthostatic intolerance. Measures of BP, HR, and temperature were within normal limits with no orthostatism.

Conclusion: Autonomic dysfunction in HDGECs appears to affect multiple domains, potentially impacting quality of life. Identifying the most prevalent symptoms may provide insight to guide treatment options.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/autonomic-nervous-system-dysfunction-in-patients-with-huntingtons-disease-preliminary-results-using-the-compass-31-scale/