PDF(Pubmed)
Abstract：
Huntington\'s disease (HD) is a neurodegenerative disorder characterized by severe motor, cognitive and psychiatric symptoms. Patients of all ages can present with a dysfunction of the nervous system, which leads to the progressive loss of movement control and disabilities in speech, swallowing, communications, etc. The molecular basis of the disease is well-known, as HD is related to a mutated gene, a trinucleotide expansion, which encodes to the huntingtin protein. This protein is linked to neurogenesis and the loss of its function leads to neurodegenerative disorders. Although the genetic cause of the disorder has been known for decades, no effective treatment is yet available to prevent onset or to eliminate the progression of symptoms. Thus, the present review focused on the development of novel methods for the timely and accurate diagnosis of HD in an aim to aid the development of therapies which may reduce the severity of the symptoms and control their progression. The majority of the therapies include gene-silencing mechanisms of the mutated huntingtin gene aiming to suppress its expression, and the use of various substances as drugs with highly promising results. In the present review, the latest approaches on the diagnosis of HD are discussed along with the need for genetic counseling and an up-to-date presentation of the applied treatments.
摘要：
亨廷顿病（HD）是一种神经退行性疾病，其特征是严重的运动，认知和精神症状。所有年龄段的患者都可能出现神经系统功能障碍，这导致了运动控制的逐渐丧失和言语残疾，吞咽,通讯,等。这种疾病的分子基础是众所周知的，因为HD与突变基因有关，三核苷酸扩增，编码亨廷顿蛋白。这种蛋白质与神经发生有关，其功能的丧失导致神经退行性疾病。尽管这种疾病的遗传原因已经知道了几十年，目前尚无有效的治疗方法来预防发病或消除症状的进展。因此，本综述的重点是开发及时准确诊断HD的新方法,以帮助开发可以减轻症状严重程度并控制其进展的治疗方法.大多数疗法包括突变的亨廷顿基因的基因沉默机制，旨在抑制其表达，以及使用各种物质作为药物具有非常有希望的结果。在本次审查中，讨论了HD诊断的最新方法，以及对遗传咨询的需求和应用治疗的最新介绍。
