High Frequency of Concomitant Bladder, Bowel, and Sexual Symptoms in Huntington’s Disease: A Self-Reported Questionnaire Study

Huntington’s disease (HD) can be associated with pathologic involvement beyond the striatum including the autonomic nervous system. Bladder, bowel, and sexual dysfunction have been reported independently in HD, but little is known about their concomitant occurrence. To document this concomitant phenomena, forty-eight subjects (54% male, ages 28–74 years, CAG repeat 38–61) with manifest/symptomatic HD completed detailed questionnaires regarding bladder, bowel, and sexual function. In total, 45 subjects (93.8%) reported symptoms in at least one organ system (bladder, bowel, or sexual), 13 (27.1%) reported symptoms in two systems, and 19 (39.6%) reported concomitant symptoms in all three systems. Urinary problems were most frequent in 42 subjects (87.5%) followed by lower bowel (60.4%) and sexual dysfunction (56.2%). Participants reporting concomitant symptoms were more likely to have longer duration of disease and lower Total Functional Capacity (TFC) scores. This study documents the high frequency of bladder, bowel, and sexual dysfunction in HD and the common occurrence of concomitance of these pelvic organ problems.

Patient-reported impact of symptoms in Huntington disease

ObjectiveTo determine the frequency and relative importance of symptoms experienced by adults with Huntington disease (HD) and to identify factors associated with a higher disease burden.MethodsWe performed 40 qualitative interviews (n = 20 with HD, n = 20 caregivers) and analyzed 2,082 quotes regarding the symptomatic burden of HD. We subsequently performed a cross-sectional study with 389 participants (n = 156 with HD [60 of whom were prodromal], n = 233 caregivers) to assess the prevalence and relative importance (scale 0–4) of 216 symptoms and 15 symptomatic themes in HD. Cross-correlation analysis was performed based on sex, disease duration, age, number of CAG repeats, disease burden, Total Functional Capacity score, employment status, disease status, and ambulatory status.ResultsThe symptomatic themes with the highest prevalence in HD were emotional issues (83.0%), fatigue (82.5%), and difficulty thinking (77.0%). The symptomatic themes with the highest relative importance to participants were difficulty thinking (1.91), impaired sleep or daytime sleepiness (1.90), and emotional issues (1.81). High Total Functional Capacity scores, being employed, and having prodromal HD were associated with a lower prevalence of symptomatic themes. Despite reporting no clinical features of the disease, prodromal individuals demonstrated high rates of emotional issues (71.2%) and fatigue (69.5%). There was concordance between the prevalence of symptoms reported by manifest individuals and caregivers.ConclusionsMany symptomatic themes affect the lives of those with HD. These themes have a variable level of importance to the HD population and are identified both by those with HD and by their caregivers.

Evaluating depression and suicidality in tetrabenazine users with Huntington disease

ObjectiveTo determine whether tetrabenazine (TBZ) use is associated with an increased incidence of depression and/or suicidal ideation.MethodsIn this retrospective cross-sectional study of the Enroll-HD database, we used multiple logistic regression analyses to determine whether TBZ use is associated with an increased incidence of depression and/or suicidal ideation. For both dependent variables (depression and suicidality), separate analyses were conducted on (1) all participants, (2) only participants with a history of depression, and (3) only participants with no history of depression. Adjustments were made for CAG repeat length, total motor score, total functional capacity, Symbol Digit Modalities Test score, sex, disease duration, history of depression (when applicable), antipsychotic use, and antidepressant use.ResultsCompared to participants who were not using TBZ (n = 3,548), TBZ users (n = 543) did not have an increased risk of depression (odds ratio [OR] = 0.78, p = 0.064). Participants taking TBZ actually had a relatively lower risk of suicidality (OR = 0.61, p = 0.043). Among only participants with a history of depression, those using TBZ had a lower incidence of depression (OR = 0.71, p = 0.016) and suicidal ideation (OR = 0.57, p = 0.028) compared to those not using TBZ. Finally, among only participants with no history of depression, TBZ use was not associated with a higher incidence of depression (OR = 1.59, p = 0.18) or suicidality (OR = 1.43, p = 0.66) compared to those who were not using TBZ.ConclusionsTBZ use was not associated with an increased incidence of depression or suicidality. These findings suggest that TBZ may be safe to use in patients with Huntington disease who have a history of depression.

Energy Balance in Huntington's Disease

Introduction: Little is known about the energy needs in Huntington's disease (HD). The aims of this study are to analyze and compare the total energy expenditure (TEE) and energy balance (EB) in a representative sample of HD patients with healthy controls. Methods: This is an observational, case-control single-center study. Food caloric energy intake (EI) and TEE were considered for estimating EB. A dietary recall questionnaire was used to assess the EI. TEE was computed as the sum of resting energy expenditure (REE), measured by indirect calorimetry and physical activity (PA) monitored by an actigraph. Results: A total of 22 patients were included (36% men, mean age 50.3 ± 15.6 years, motor Unified Huntington's Disease Scale 27.9 ± 23.7, total functional capacity 11.0 (7.0-13.0), EI 38.6 ± 10.0 kcal/kg, PA 5.3 (3.0-7.4) kcal/kg, REE 30.9 ± 6.4 kcal/kg, TEE 2,023.4 (1,592.0-2,226.5) kcal/day) and 18 controls (50% men, mean age 47.4 ± 13.8 years, EI 38.6 ± 10.3 kcal/kg, PA 8.4 (5.0-13.8) kcal/kg, REE 30.8 ± 6.6 kcal/kg, TEE 2,281.0 (2,057.3-2,855.3) kcal/day). TEE was significantly lower in patients compared to controls (p = 0.03). PA was lower in patients compared to controls (p = 0.02). Conclusions: Although patients with HD appeared to have lower energy expenditure, mainly due to decreased voluntary PA, they were still able to maintain their energy needs with an adequate food intake.