Huntington disease.
Huntington disease.
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DOI：
10.1016/b978-0-444-63233-3.00017-8
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发表时间：
2018-01-01
影响因子：
--
通讯作者：
Tabrizi, Sarah J
中科院分区：
文献类型：
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作者：
Ghosh, Rhia;Tabrizi, Sarah J
亨廷顿病是一种单基因神经退行性疾病，表现为常染色体显性遗传模式。其特征是运动，精神和认知症状，进展超过15-20年。自1993年确定致病基因突变以来，已经发现了许多关于潜在致病机制的信息，但迄今为止还没有可用的疾病修饰疗法。本章回顾了亨廷顿病的流行病学、遗传基础、发病机制、表现和临床治疗。基因检测的原则是明确的。我们还描述了最近的发展，在不断寻找治疗和生物标志物，以跟踪疾病的进展。
Huntington disease is a monogenic neurodegenerative disorder that displays an autosomal-dominant pattern of inheritance. It is characterized by motor, psychiatric, and cognitive symptoms that progress over 15-20 years. Since the identification of the causative genetic mutation in 1993 much has been discovered about the underlying pathogenic mechanisms, but as yet there are no disease-modifying therapies available. This chapter reviews the epidemiology, genetic basis, pathogenesis, presentation, and clinical management of Huntington disease. The principles of genetic testing are explained. We also describe recent developments in the ongoing search for therapeutics and for biomarkers to track disease progression.