2026-04-28T12:43:22Zhttps://riubu.ubu.es/oai/request

oai:riubu.ubu.es:10259/88322024-03-16T01:05:12Zcom_10259_6256com_10259_5086com_10259_2604com_10259_7328com_10259_3989com_10259.4_106com_10259_4219col_10259_6257col_10259_7329col_10259_4220

García González, Xandra 1e94a8fc-717c-41c1-9c7e-799e50cd3e2c 600 Cubo Delgado, Esther 131 600 0000-0003-0018-1182 Simón Vicente, Lucía 635 600 0000-0003-4450-7316 Mariscal, Natividad e5bc8958-976e-4cb3-9241-2036a63603ed 600 Alcaraz, Raquel f37b3220-2c62-4524-ab2c-60d6a8de878a 600 Aguado, Laura e07b48f3-0137-4942-a4c7-dd0fdbc79d1f 600 Rivadeneyra Posadas, Jéssica Jannett 8b6474c8-2c4f-445f-95e6-70a0b79f5a5f 600 Sanz Solas, Antonio 027ed136-d5d1-4fde-9d6c-71204565fc43 600 Saiz Rodríguez, Miriam 826 600 0000-0002-1660-3135 2024-03-15T08:59:23Z 2024-03-15T08:59:23Z 2023-02 http://hdl.handle.net/10259/8832 10.3390/jpm13030385 2075-4426 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. M.S.-R. contract was supported by the Instituto de Salud Carlos III (ISCIII), the Spanish Ministry of Science and Innovation, through the Sara Borrell Program (CD21/00022). A.S.-S. contract was funded by the Fundación HNA, 2nd edition of the Scientific Health Research Award. application/pdf eng MDPI Journal of Personalized Medicine. 2023, V. 13, n. 3, 385 https://doi.org/10.3390/jpm13030385 Atribución 4.0 Internacional http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess Huntington Pharmacogenetics Antichoreic Antidepressant Antipsychotic Sistema nervioso-Enfermedades Medicina Farmacología Neurología Nervous system-Diseases Medicine Pharmacology Neurology Pharmacogenetics in the Treatment of Huntington’s Disease: Review and Future Perspectives info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Journal of Personalized Medicine 13 3 THUMBNAIL Garcia-jpm_2023.pdf.jpg Garcia-jpm_2023.pdf.jpg IM Thumbnail image/jpeg 3334 https://riubu.ubu.es/bitstream/10259/8832/4/Garcia-jpm_2023.pdf.jpg 83ed7c6ed032c8de63495934b8d93fe3 MD5 4 LICENSE license.txt license.txt text/plain; charset=utf-8 999 https://riubu.ubu.es/bitstream/10259/8832/3/license.txt b295bcbce42e2caabeb0c623d3860c06 MD5 3 CC-LICENSE license_rdf license_rdf application/rdf+xml; charset=utf-8 908 https://riubu.ubu.es/bitstream/10259/8832/2/license_rdf 0175ea4a2d4caec4bbcc37e300941108 MD5 2 ORIGINAL Garcia-jpm_2023.pdf Garcia-jpm_2023.pdf application/pdf 483334 https://riubu.ubu.es/bitstream/10259/8832/1/Garcia-jpm_2023.pdf 2794d5a843b9fd7eac815fe5f187155e MD5 1 10259/8832 oai:riubu.ubu.es:10259/8832 2024-03-16 02:05:12.84 Repositorio Institucional de la Universidad de Burgos bubrep@ubu.es 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