Ghosh Rhia, Tabrizi Sarah J
Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Handb Clin Neurol. 2018;147:255-278. doi: 10.1016/B978-0-444-63233-3.00017-8.
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.
亨廷顿舞蹈症是一种单基因神经退行性疾病，呈常染色体显性遗传模式。其特征为运动、精神和认知症状，这些症状会在15至20年的时间里逐渐发展。自1993年发现致病基因突变以来，人们对其潜在的致病机制已有诸多了解，但目前仍没有改变疾病进程的疗法。本章回顾了亨廷顿舞蹈症的流行病学、遗传基础、发病机制、临床表现及临床管理。文中解释了基因检测的原则。我们还描述了在寻找治疗方法和追踪疾病进展的生物标志物方面的最新进展。
