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Introduction: Huntington's disease (HD) is an inherited neurodegenerative condition for which there are no disease-modifying treatments. The availability of early genetic diagnosis makes HD an ideal candidate for early intervention. Growing understanding of pathogenesis has led to the identification of new therapeutic targets for which some compounds are now in clinical trials. Areas covered: A detailed review of medical databases and clinical trial registries was performed. Recent clinical trials aimed to establish disease-modification were included. Focus was assigned to RNA and DNA-based therapies aimed at lowering mutant huntingtin (mHTT) including antisense oligonucleotides (ASOs), RNA interference (RNAi), zinc finger proteins (ZFPs) and the CRISPR-Cas9 system. Modulation of mHTT and immunotherapies is also covered. Expert opinion: Targeting HD pathogenesis at its most proximal level is under intense investigation. ASOs are the only HTT-lowering strategy in clinical trials of manifest HD. Safety and efficacy of an allele specific vs. allele non-specific approach has yet to be established. Success will extend to premanifest carriers for which development of clinical and imaging biomarkers will be necessary. Scientific and technological advancement will bolster new methods of treatment delivery. Cumulative experience, collaborative research, and platforms such as ENROLL-HD will facilitate efficient and effective clinical trials. [ABSTRACT FROM AUTHOR]

Background: Since its localization to the NKX2‐1 gene in 2002, the phenotype of the disorder historically called "benign hereditary chorea" has been expanding beyond chorea. Methods: The phenomenology of movement disorders and other symptomatology associated with mutations in NKX2‐1 were characterized after a detailed evaluation of consecutive patients evaluated in our clinic over the past 3 years. Results: We studied 5 patients (3 females), ages 2 to 31 years, with confirmed pathogenic variants in NKX2‐1. All patients exhibited chorea, gross motor delay, and gait impairment. Other symptoms included neonatal respiratory failure (n = 4), cognitive deficits (n = 3), hypothyroidism (n = 4), joint laxity (n = 2), myoclonus (n = 1), hypotonia (n = 3), and seizures (n = 1). Chorea often proved refractory to medical therapies. Conclusions: The phenotype associated with pathogenic variants in NKX2‐1 frequently includes disabling and often medically refractory neurological and non‐neurological abnormalities. We therefore suggest that the term benign hereditary chorea be abandoned in favor of its genetic designation as NKX2‐1–related disorder. View Supplementary Video 1 View Supplementary Video 2 View Supplementary Video 3 View Supplementary Video 4 View Supplementary Video 5 [ABSTRACT FROM AUTHOR]

Introduction: Huntington’s disease (HD) is an inherited neurodegenerative disorder for which no disease-modifying treatment is currently available. Only symptomatic treatment can be offered. Chorea is the most common motor manifestation of HD and may interfere with daily activities, reduce quality of life, and cause injury. Areas covered: Deutetrabenazine is the first deuterated drug and second drug after tetrabenazine, the classic vesicular monoamine transporter type 2 (VMAT2) inhibitor, to receive approval for the treatment of chorea associated with HD. This review, based largely on a detailed PubMed search, will summarize the pharmacological properties, clinical evidence of efficacy and tolerability of deutetrabenazine in the treatment of HD chorea. Expert commentary: Due to differences in pharmacology and pharmacokinetics, deutetrabenazine has shown promise that it is at least as effective as tetrabenazine in the treatment of HD chorea but has a lower risk of adverse effects. The role of VMAT2 inhibitors in the treatment of hyperkinetic movement disorders is expanding due to their efficacy and favorable tolerability profiles. [ABSTRACT FROM AUTHOR]

Background: Body weight and its perception play an important role in the physical and mental well-being of a person. Weight perception is found to be a better predictor of weight management behaviour as compared to actual weight. In Pakistan, studies have been done on the prevalence of weight status but weight perception is still unexplored. The study was done to examine relationships between body weight perception, actual weight status, and weight control behaviour among the female university students of Karachi. Methods: A cross sectional study was carried out during Sep-Nov 2009 on female students in four universities of Karachi, Pakistan. Our final sample size included 338 female university students. Height and weight were measured on calibrated scales. A modified BMI criterion for Asian populations was used. Results: Based on measured BMI; the prevalence of underweight, normal weight and overweight females was 27.2%, 51.5% and 21.3% respectively. As a whole, just over one third (33.73%) of the sample misclassified their weight status. Among underweight (n=92), 45.70% thought they were of normal weight. No one who was truly underweight perceived them self as overweight. Among the normal weight (n= 174), 9.8% thought they were underweight and 23.6% considered themselves overweight. Among the overweight (n=72); 18.3% considered themselves normal. Only one female student thought she was underweight despite being truly overweight. Conclusions: Our study shows that among female university students in Karachi, the prevalence of being underweight is comparatively high. There is a significant misperception of weight, with one third of students misclassifying themselves. Underweight females are likely to perceive themselves as normal and be most satisfied with their weight. Health policy makers should implement these findings in future development of health interventions and prevention of depression, social anxiety and eating disorders associated with incorrect weight perception among young females. Studies that employ a longitudinal approach are needed to validate our findings. [ABSTRACT FROM AUTHOR]

Background: Body weight and its perception play an important role in the physical and mental well-being of a person. Weight perception is found to be a better predictor of weight management behaviour as compared to actual weight. In Pakistan, studies have been done on the prevalence of weight status but weight perception is still unexplored. The study was done to examine relationships between body weight perception, actual weight status, and weight control behaviour among the female university students of Karachi.Methods: A cross sectional study was carried out during Sep-Nov 2009 on female students in four universities of Karachi, Pakistan. Our final sample size included 338 female university students. Height and weight were measured on calibrated scales. A modified BMI criterion for Asian populations was used.Results: Based on measured BMI; the prevalence of underweight, normal weight and overweight females was 27.2%, 51.5% and 21.3% respectively. As a whole, just over one third (33.73%) of the sample misclassified their weight status. Among underweight (n=92), 45.70% thought they were of normal weight. No one who was truly underweight perceived them self as overweight. Among the normal weight (n= 174), 9.8% thought they were underweight and 23.6% considered themselves overweight. Among the overweight (n=72); 18.3% considered themselves normal. Only one female student thought she was underweight despite being truly overweight.Conclusions: Our study shows that among female university students in Karachi, the prevalence of being underweight is comparatively high. There is a significant misperception of weight, with one third of students misclassifying themselves. Underweight females are likely to perceive themselves as normal and be most satisfied with their weight. Health policy makers should implement these findings in future development of health interventions and prevention of depression, social anxiety and eating disorders associated with incorrect weight perception among young females. Studies that employ a longitudinal approach are needed to validate our findings. [ABSTRACT FROM AUTHOR]