Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
CNS Neurosci Ther. 2011 Dec;17(6):705-13. doi: 10.1111/j.1755-5949.2010.00209.x. Epub 2010 Dec 28.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by abnormal movement, cognitive decline, and psychiatric disturbance. HD is caused by a trinucleotide repeat expansion in the HTT gene and a corresponding neurotoxic polyglutamine expansion in the huntingtin protein. There is currently no therapy to modify the progressive course of the disease, and symptomatic treatment options are limited. In this review we describe a diverse set of emerging experimental therapeutic strategies for HD: deep brain stimulation; delivery of neurotrophic factors; cell transplantation; HTT gene silencing using RNA interference or antisense oligonucleotides; and delivery of intrabodies. The common feature of these experimental therapies is that they all require a neurosurgical intervention, either for implantation of an electrode or for brain delivery of molecules, viruses or cells that do not cross the blood-brain barrier upon oral or intravenous administration. We summarize available data on the rationale, safety, efficacy, and intrinsic limitations of each of these approaches, focusing mainly on studies in HD patients and genetic animal models of HD. Although each of these strategies holds significant promise, their efficacy remains to be proven in HD patients.
亨廷顿病(HD)是一种常染色体显性遗传的神经退行性疾病,其特征为运动异常、认知能力下降和精神障碍。HD 由 HTT 基因中的三核苷酸重复扩增和相应的亨廷顿蛋白中的神经毒性多聚谷氨酰胺扩展引起。目前尚无改变疾病进行性病程的治疗方法,症状治疗选择有限。在这篇综述中,我们描述了一系列新兴的 HD 实验治疗策略:深部脑刺激;神经营养因子的传递;细胞移植;使用 RNA 干扰或反义寡核苷酸进行 HTT 基因沉默;以及内抗体的传递。这些实验治疗的共同特点是它们都需要神经外科干预,无论是为了植入电极还是为了脑内传递不能通过口服或静脉给药穿过血脑屏障的分子、病毒或细胞。我们总结了这些方法的原理、安全性、有效性和内在局限性的现有数据,主要集中在 HD 患者和 HD 遗传动物模型的研究上。尽管这些策略都有很大的希望,但它们在 HD 患者中的疗效仍有待证明。