Department of Neurosurgery, Clinical Neurosciences Center, University of Utah, Salt Lake City, UT, USA.
Department of Neurology, University of Utah, Salt Lake City, UT, USA; Department of Neurology, George E. Wahlen VA Medical Center, Salt Lake City, UT, USA.
Neurotherapeutics. 2024 Oct;21(6):e00452. doi: 10.1016/j.neurot.2024.e00452. Epub 2024 Sep 20.
Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized by choreic movements, behavioral changes, and cognitive impairment. The pathogenesis of this process is a consequence of mutant protein toxicity in striatal and cortical neurons. Thus far, neurosurgical management of HD has largely been limited to symptomatic relief of motor symptoms using ablative and stimulation techniques. These interventions, however, do not modify the progressive course of the disease. More recently, disease-modifying experimental therapeutic strategies have emerged targeting intrastriatal infusion of neurotrophic factors, cell transplantation, HTT gene silencing, and delivery of intrabodies. Herein we review therapies requiring neurosurgical intervention, including those targeting symptom management and more recent disease-modifying agents, with a focus on safety, efficacy, and surgical considerations.
亨廷顿病（HD）是一种常染色体显性神经退行性疾病，其特征为舞蹈样运动、行为改变和认知障碍。该过程的发病机制是纹状体和皮质神经元中突变蛋白毒性的结果。到目前为止，HD 的神经外科治疗在很大程度上仅限于使用消融和刺激技术来缓解运动症状。然而，这些干预措施并不能改变疾病的进行性病程。最近，出现了针对纹状体内神经生长因子输注、细胞移植、HTT 基因沉默和内抗体递送的疾病修饰实验治疗策略。本文综述了需要神经外科干预的治疗方法，包括针对症状管理和最近的疾病修饰剂的治疗方法，重点介绍了安全性、疗效和手术考虑因素。
