Olmedo-Saura Gonzalo, Bernardi Eugenio, Bojtos Lidia, Martínez-Horta Saül, Pagonabarraga Javier, Kulisevsky Jaime, Pérez-Pérez Jesús
Medicine Department, Universitat Autònoma de Barcelona (UAB), 08193 Barcelona, Spain.
Movement Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain.
Int J Mol Sci. 2025 Jun 27;26(13):6220. doi: 10.3390/ijms26136220.
Huntington's disease (HD) is the most common autosomal dominant neurodegenerative disorder, characterized by a triad of motor dysfunction, cognitive decline, and psychiatric disturbances. While recent efforts have focused on developing disease-modifying therapies, no treatment has yet demonstrated clinical efficacy. As a result, symptomatic treatment remains the cornerstone of care. However, high-quality evidence from large randomized trials is limited, and therapeutic decisions must rely on clinical expertise and extrapolation from other neurological or psychiatric conditions. This narrative review provides a comprehensive and practical overview of symptomatic treatment strategies for HD with emphasis on the pathophysiological underpinnings of each symptom and the molecular mechanisms of available and emerging therapies, aiming to support rational, individualized management. Finally, we highlight the critical role of non-pharmacological interventions and the need for multidisciplinary approaches to optimize patient outcomes and quality of life.
亨廷顿舞蹈症（HD）是最常见的常染色体显性神经退行性疾病，其特征为运动功能障碍、认知衰退和精神障碍三联征。尽管近期的努力集中在开发疾病修正疗法，但尚无治疗方法显示出临床疗效。因此，对症治疗仍然是护理的基石。然而，来自大型随机试验的高质量证据有限，治疗决策必须依赖临床专业知识以及从其他神经或精神疾病推断得出的结论。本叙述性综述全面且实用地概述了HD的对症治疗策略，重点阐述了每种症状的病理生理基础以及现有和新兴疗法的分子机制，旨在支持合理的个体化管理。最后，我们强调了非药物干预的关键作用以及采用多学科方法优化患者预后和生活质量的必要性。
