Huntington's disease (HD) is a neurodegenerative disease that has motor dysfunction, predominantly chorea, cognitive impairment, and psychiatric disturbances as symptoms. Treatment is directed to reduce the severity of symptoms, although there are few studies and no clinical guidelines for rehabilitation in HD. Therefore, this review aimed to establish an effective rehabilitation approach for HD according to the stage of the disease. In the early stage of HD, the motor symptoms are mild, and psychological symptoms occur. Treatment in this period should focus on aerobic and resistance exercises, task-specific training, secondary prevention education, cognitive training, and psychological management. In the middle stage of HD, the motor symptoms are more severe. Task-specific rehabilitation approaches, education for the patient and caregiver, functional respiratory exercises, activities of daily living training, multidisciplinary and multimodal daycare rehabilitation are helpful to patients in this stage. At the late stage of HD, most patients need complete support for activity of daily living. Mobility and balance evaluation and prevention strategies should be focused on for safety, and respiratory exercises and physical exercise to prevent complications in patients with severely impaired mobility should be considered based on the patient's condition. Programmed rehabilitation management based on the stage of the disease is effective for patients with HD.
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http://dx.doi.org/10.12786/bn.2023.16.e28 | DOI Listing |
Psychiatr Psychol Law
January 2024
School of Psychology, Faculty of Science, University of New South Wales, Sydney, Australia.
This study aims to characterize people with dementia who were charged with criminal offences between 1995 and 2020 and describe their offending. Court cases were derived from Australian legal databases and descriptive data were manually extracted from case reports. Of 62 people variously charged with homicide, assault, child sexual assault, breach of conditions, property and larceny offences, driving offences, perverting the course of justice and arson, 46 were identified as having executive dysfunction, either as stated by medical expert witnesses or implicitly, due to conditions like Huntington's disease and frontotemporal dementia.
View Article and Find Full Text PDFEur J Hum Genet
January 2025
City St. George's University, School of Health & Medical Sciences, London, UK.
Value Health
January 2025
Department of Cardiology and State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Objective: Our objective was to develop and assess the psychometric properties of relevant bolt-on items for the EQ-5D-5L in patients with rare diseases (RDs).
Methods: Nineteen new EQ-5D-5L bolt-ons were developed based on literature review, expert input and qualitative interviews and focus groups with patients, caregivers and representatives of patient associations. A nationwide, cross-sectional, web-based survey in China included patients or caregivers of patients with 31 RDs in China (n=9,190).
Curr Opin Neurobiol
January 2025
Salk Institute for Biological Studies, Molecular Neurobiology Laboratory, 10010 North Torrey Pines Rd, La Jolla, CA, 92037, USA. Electronic address:
Astrocytes perform multiple functions in the nervous system, many of which are altered in neurodegenerative disorders. In this review, we explore shared astrocytic alterations across neurodegenerative disorders, including Alzheimer's disease, Huntington's disease, Parkinson's disease, amyotrophic lateral sclerosis, and frontotemporal lobe degeneration. Assessing recent datasets of single-nucleus RNA-sequencing of human brains, a theme emerges of common alterations in astrocyte state across disorders including in neuroinflammation, synaptic organization, metabolic support, and the cellular stress response.
View Article and Find Full Text PDFMol Ther Nucleic Acids
March 2025
NYU Cardiovascular Research Center, NYU Grossman School of Medicine, New York, NY 100016, USA.
Altered protein conformation can cause incurable neurodegenerative disorders. Mutations in , the gene encoding neuroserpin, can alter protein conformation resulting in cytotoxic aggregation leading to neuronal death. Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a rare autosomal dominant progressive myoclonic epilepsy that progresses to dementia and premature death.
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