Yapijakis Christos
Department of Oral and Maxillofacial Surgery, School of Medicine, University of Athens, Attikon Hospital, Athens, Greece.
"Cephalogenetics" Genetic Center, Athens, Greece.
Adv Exp Med Biol. 2017;987:55-65. doi: 10.1007/978-3-319-57379-3_6.
Huntington's chorea or Huntington disease (HD) is a late-onset autosomal dominant neurodegenerative disorder caused by a trinucleotide repeat expansion. The multidisciplinary study of HD has been the focus of an international collaborating effort of basic and applied research for several decades. HD was the first human genetic disease mapped using linkage analysis of DNA polymorphisms and became a paradigm for scores of genes mapped in the same manner. Presymptomatic and prenatal testing have been available for HD families in the last 30 years, following genetic counseling and careful bioethical guidelines. Nevertheless, with the cure for the disease still elusive the uptake of predictive testing by at risk individuals is low. Current treatment of HD is mostly symptomatic, but ongoing observational studies, clinical trials and development of new gene silencing technologies have provided hopeful results.
亨廷顿舞蹈症或亨廷顿病（HD）是一种由三核苷酸重复序列扩增引起的迟发性常染色体显性神经退行性疾病。几十年来，HD的多学科研究一直是基础研究和应用研究国际合作努力的重点。HD是第一种通过DNA多态性连锁分析进行基因定位的人类遗传疾病，并成为以同样方式定位的数十个基因的范例。在过去30年里，在进行遗传咨询并遵循严格的生物伦理准则后，HD家族可进行症状前和产前检测。然而，由于该病仍无法治愈，有患病风险的个体对预测性检测的接受度较低。目前HD的治疗大多是对症治疗，但正在进行的观察性研究、临床试验以及新基因沉默技术的开发已取得了令人鼓舞的成果。
