Huntington’s disease (HD) is an autosomal dominant progressive brain disorder, caused by a pathological expansion of a CAG repeat that encodes the huntingtin gene. This genetic neurodegenerative rare disease is characterized by cognitive, motor, and neuropsychiatric manifestations. The aim of the treatment is symptomatic and addresses the hyperkinetic disorders (chorea, dystonia, myoclonus, tics, etc.) and the behavioural and cognitive disturbances (depression, anxiety, psychosis, etc.) associated with the disease. HD is still a complex condition in need of innovative and efficient treatment. The long-term goal of pharmacogenetic studies is to use genotype data to predict the effective treatment response to a specific drug and, in turn, prevent potential undesirable effects of its administration. Chorea, depression, and psychotic symptoms have a substantial impact on HD patients’ quality of life and could be better controlled with the help of pharmacogenetic knowledge. We aimed to carry out a review of the available publications and evidence related to the pharmacogenetics of HD, with the objective of compiling all information that may be useful in optimizing drug administration. The impact of pharmacogenetic information on the response to antidepressants and antipsychotics is well documented in psychiatric patients, but this approach has not been investigated in HD patients. Future research should address several issues to ensure that pharmacogenetic clinical use is appropriately supported, feasible, and applicable.
Introduction: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder characterized by motor dysfunction, cognitive impairment, and psychiatric disorders. These symptoms cause functional limitations in occupational performance. This study aimed to describe the difficulties in self-care, productivity, and leisure activities and to analyze the patients’ own perception and satisfaction and the association with sex, age, disability, HD severity, and quality of life. Method: We conducted an observational, retrospective study in 38 patients with HD without cognitive impairment at the Burgos University Hospital. We assessed occupational performance, quality of life, and HD severity with the Canadian Occupational Performance Measure, Short-Form Health Survey 12, Unified Huntington’s Disease Rating Scale, Total Functional Capacity, and the Problems Behavior Assessment. Results: One hundred sixty-five occupations (median 4, range 2–7) were categorized as self-care (50.90%), leisure (30.30%), and productivity (18.79%). Patients reported a higher degree of satisfaction with the activities prioritized than with the degree of performance. Elderly HD patients reported more satisfaction in leisure and women in self-care. Self-ratings of satisfaction in productivity were associated with higher levels of mental wellbeing. Conclusions: HD patients have problems with their daily life occupations, particularly with self-care. This underlines the need for assessment tools that capture the complexity of occupations.
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