Factors Associated with Low Body Mass Index in Huntington's Disease: A Spanish Multicenter Study of the European Huntington's Disease Registry.

BACKGROUND: Patients with Huntington's disease (HD) are at risk for body weight loss and increased risk for institutionalization, morbidity, and mortality. The aim of this study was to determine the factors associated with low body mass index (BMI) in patients with HD. METHODS: In this national, observational, cross-sectional study of the European Huntington's Disease Network, the frequency of food consumption, calories, and nutrient intake in patients with HD was assessed using questionnaires validated for the Spanish population and were calculated using the software package Alimentación and Salud (Diet and Health), version 2.0. Nutritional status was estimated using the BMI, and disease severity was assessed using the Unified Huntington's Disease Rating Scale and a total functional capacity (TFC) score. Linear regression models were performed using BMI as the dependent variable and using energy balance (energy caloric intake - energy expenditure); the TFC score; the presence of a caregiver; dysphagia; cytosine, adenine, guanine (CAG) repeats; comorbidities; intake of supplements; pharmacologic treatments; age; gender; education; and physical activity as the independent variables. RESULTS: Two hundred twenty-four patients with HD were included (59% women), and their mean age was 47.41 ± 14.26 years, a median TFC score of 9 (range, 3-13), normal BMI in 124 patients (55.4%), and low BMI in 13 patients (6.7%). In the linear regression model, older age (ß = 0.003; P = 0.01), male gender (ß = 0.13; P = 0.003), and lower energy balance (ß = -0.0001; P = 0.0003) were associated with a higher log-transformed BMI. CONCLUSIONS: Younger female HD patients are at risk for low BMI. To counteract the influence of the HD gene mutation on decreased BMI, an increase in kilocalories per day should be encouraged.

Body composition analysis as an indirect marker of skeletal muscle mass in Huntington's disease.

BACKGROUND: Skeletal muscle wasting is likely to play an important role in the Huntington's disease (HD) pathogenesis. Our aim was to analyze the body composition, and specifically fat-free mass (FFM), as an indirect marker of skeletal muscle in patients with HD, and its association with HD severity and energy balance. METHODS: Cross-sectional, case-control study. Body composition was analyzed using bioelectrical impedance. Information was collected as regards of the anthropometrics, disease severity [Unified Huntington Disease Rating (UHDRS) and Total functional capacity (TFC) scores], CAG repeats, protein catabolism, energy intake and energy expenditure. RESULTS: Twenty two patients with HD [mean age 50.3±15.6, mean UHDRS of 27.9±23.7, median TFC of 11 (IQR: 7; 13); median body mass index 23.6 (IQR: 26.8; 22.5)], and 18 controls were included. Both groups were similar in terms of age, gender, body mass index, body composition, physical activity level, and protein catabolism. FFM was correlated with energy intake (r=0.73, p<0.001), resting energy expenditure (r=0.64, p=0.001) and physical activity (r=0.54, p=0.003), but not with CAG repeats, or HD severity. CONCLUSIONS: Our results do not support the presence of significant muscle wasting in patients with early-moderate Huntington's disease. However, to prevent muscle wasting in HD, dietary strategies, in addition to physical exercise, should be further investigated.

Relationship between Nutritional Status and the Severity of Huntington's Disease. A Spanish Multicenter Dietary Intake Study.

BACKGROUND: Little is known about the impact of nutrition status on Huntington's disease (HD) severity. OBJECTIVE: To analyze the association of nutritional factors with HD severity. METHODS: Observational, cross-sectional, national multicenter study. Participants were selected from a Spanish cohort of patients who participate in the European Huntington Disease Network (EHDN). The frequency of food consumption, caloric and nutrients intake in patients with HD were assessed using validated questionnaires for the Spanish population, and calculated using Alimentaci´on and Salud, version 2.0, and the Spanish Dietary Recommended Intakes were used as the gold standard. Disease severity was assessed using the Unified HD Rating Scale (UHDRS) and Total Functional Capacity (TFC). Logistic regression models were performed using the TFC as the dependent variable, and the macro-micronutrients as the independent variables, adjusted for age, gender, education, physical activity, and intake of supplements. RESULTS: Two hundred and twenty four patients with HD were included (59% women), mean age of 47.41±14.26 years, median TFC 9 (3­13), median UHDRS motor score of 33.5 (3.75­56), 75.8% with normal-high caloric intake, 55.4% normal BMI, and 54.4% with medium-high adherence to the Mediterranean diet. Compared to patients with mild-moderate HD, patients with severe HD had higher caloric intake (p = 0.02), and similar BMI (p = 0.33). Advanced HD was associated with higher intake of water-soluble vitamins (OR = 2.08; 95% CI = 1.12­3.85, p = 0.02), and minerals (OR = 1.86; 95% CI = 1.09­ 3.19, p = 0.02). CONCLUSIONS AND RELEVANCE: An adequate dietary intake prevents against weight loss in patients with advanced HD, but it is not associated with better functional state.

Lack of association of morphologic and functional retinal changes with motor and non-motor symptoms severity in Parkinson's disease.

Visual symptoms are common among the nonmotor symptoms in Parkinson's disease. The aims of this study were to assess the diagnostic accuracy and relationship of retinal morphologic and functional changes with motor and non-motor symptoms disturbances in Parkinson's disease. Thirty patients with Parkinson's disease, with a median Hoehn-Yahr stage of 2 (1-4), were compared to 30 age- and gender-matched controls. Retinal thinning and function were measured using optical coherence tomography (OCT), visual evoked potentials (VEP), and pattern electroretinography. Motor impairment and motor laterality were measured using the Short Parkinson's Evaluation Scale/Scales for Outcomes in Parkinson's disease, and non-motor symptoms severity using the nonmotor symptoms questionnaire. Only pattern electroretinography, P50 and N95 amplitudes, were lower in patients with Parkinson's disease, compared to controls (p = 0.01, respectively). Age, disease duration, levodopa dose, motor, and non-motor impairment were not significantly associated with retinal thinning and functional changes. The patients vs. controls area under the curve of OCT, VEP, and pattern electroretinography receiver-operating-characteristic curves were<0.50. In conclusion, morphologic and functional retina changes are not significantly correlated with motor and non-motor symptoms impairment severity, and do not discriminate between Parkinson's disease and controls.

Impact of placebo assignment in clinical trials of tic disorders.

BACKGROUND: Understanding the impact of placebo treatment is pivotal to the correct interpretation of clinical trials. The aim of present study was to examine the placebo effect in tic disorders. METHODS: Raw data were obtained for 6 placebo-controlled parallel and cross-over trials that involved medical interventions for tic disorders. Tic severity was measured using the Yale Global Tic Severity Scale. Placebo effect was defined as an improvement of at least 30% over baseline scores in the total tic score and was considered clinically relevant when at least 10% of patients in the placebo-arm met that benchmark. RESULTS: In total, 91 placebo-treated patients (80% males; mean age, 16.5 years; standard deviation, 10.5 years) were included. Although there was a trend toward improvement in the total tic scores after placebo administration (P=0.057), the magnitude of the placebo effect was small (Cohen's d=0.16) but relevant (19% of the sample). Females were more likely than males to have a placebo effect. CONCLUSIONS: The magnitude of the placebo effect in tic disorders appeared to be small. Further longitudinal studies using objective assessments for tic disorders are warranted to confirm the current results. © 2013 Movement Disorder Society.

Clinical correlates of apathy in patients recently diagnosed with Parkinson's disease: the ANIMO study.

OBJECTIVE: Little is known about apathy in the early stages of Parkinson's disease (PD). We determined the clinical correlates of apathy in a large representative sample of patients recently diagnosed with PD (ANIMO study). METHODS: PD patients, diagnosed within 2 years of inclusion, were recruited in 102 outpatient clinics situated in 82 populations throughout Spain. Apathy was quantified using the Lille Apathy Rating Scale (LARS). Clinical comparisons and correlations were performed using nonparametric tests. Regression analyses were used to test the association of clinical variables with apathy. RESULTS: We recruited 557 PD patients (60.3% men) with a mean age of 68.8 ± 9.7 years, and UPDRS motor score of 21.1 ± 10.8. Apathy only was diagnosed in 186 (33.4%), and apathy and depression in 215 patients (38.6%). Patients with higher comorbidity (OR = 1.10, 95% CI 1.01-1.20, p = 0.001), motor impairment (OR = 1.07, 95% CI 1.03-1.10, p < 0.0001), and lower education (OR = 2.16, 95% CI 1.21-3.85, p = 0.009) had higher odds of having apathy, in contrast to patients living in a rural environment (OR = 0.35, 95% CI 0.32-0.85, p = 0.01), and left predominant PD motor laterality (OR = 0.34, 95% CI 0.13-0.88, p = 0.01). LARS scores were significantly correlated with UPDRS motor scores (r(s) = 0.44, p < 0.001), predominantly with axial score (r(s) = 0.43, p < 0.001). CONCLUSIONS: In PD, apathy is a very common and disabling nonmotor symptom separable from depression. Patients living in a rural environment, with lower comorbidity and motor impairment, higher education background, and left predominant PD motor laterality are at lower risk of suffering from apathy.