RT info:eu-repo/semantics/article
T1 Pharmacogenetics in the Treatment of Huntington’s Disease: Review and Future Perspectives
A1 García González, Xandra
A1 Cubo Delgado, Esther
A1 Simón Vicente, Lucía
A1 Mariscal, Natividad
A1 Alcaraz, Raquel
A1 Aguado, Laura
A1 Rivadeneyra Posadas, Jéssica Jannett
A1 Sanz Solas, Antonio
A1 Saiz Rodríguez, Miriam
K1 Huntington
K1 Pharmacogenetics
K1 Antichoreic
K1 Antidepressant
K1 Antipsychotic
K1 Sistema nervioso-Enfermedades
K1 Nervous system-Diseases
K1 Medicina
K1 Medicine
K1 Farmacología
K1 Pharmacology
K1 Neurología
K1 Neurology
AB 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.
PB MDPI
YR 2023
FD 2023-02
LK http://hdl.handle.net/10259/8832
UL http://hdl.handle.net/10259/8832
LA eng
NO 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.
DS Repositorio Institucional de la Universidad de Burgos
RD 09-may-2024