Department of Neurology, University of Bern, Bern, Switzerland.
Swiss HD Center, Neurozentrum Siloah AG, Gümligen, Switzerland.
Eur Neurol. 2022;85(5):342-348. doi: 10.1159/000526237. Epub 2022 Sep 1.
Chorea may be present in a number of diseases including hereditary disorders. Major advances have occurred in our understanding of the genetic background of those disorders, and the present short review aims at highlighting the most salient ones.
Chorea is one of the major manifestations of Huntington's disease. However, there are a number of other diseases, in which chorea is present as well and their list is in constant increase thanks to the availability of advanced molecular genetic diagnostic techniques. Finding of new genes followed by the investigation of further cases with part of the phenotype first described often leads to the recognition of additional aspects of the disorders, thus widening the scope of investigation and management. Likewise, assessment of genetic variations associated with specific aspects of the phenotype, in a way similar to approaches established in nongenetic disorders, has improved our understanding of phenotype variation. Knowledge on genetic background of chorea has ameliorated our diagnostic approaches. Furthermore, it opens new therapeutic strategies aimed at modifying expression both of the genes primarily implicated as the ones involved in further phenotype modification.
Recent research on the genetic background of disorders with chorea has provided data, which can now better guide differential diagnostic investigations in practical ways. Furthermore, they provide avenues for research on the disease mechanisms opening the door for clinical therapeutic trials.
舞蹈症可能出现在许多疾病中，包括遗传性疾病。我们对这些疾病遗传背景的理解已经取得了重大进展，目前的简短综述旨在突出其中最重要的方面。
舞蹈症是亨廷顿病的主要表现之一。然而，还有许多其他疾病也会出现舞蹈症，而且由于先进的分子遗传诊断技术的应用，其疾病列表在不断增加。发现新的基因，然后对部分首先描述的表型的进一步病例进行调查，通常会导致对疾病的其他方面的认识，从而扩大了调查和管理的范围。同样，评估与表型特定方面相关的遗传变异，类似于在非遗传疾病中建立的方法，也提高了我们对表型变异的理解。对舞蹈症遗传背景的了解改善了我们的诊断方法。此外，它为旨在修饰主要涉及进一步表型修饰的基因表达的新治疗策略开辟了道路。
最近对舞蹈症相关疾病遗传背景的研究提供了数据，这些数据现在可以更好地指导实际的鉴别诊断研究。此外，它们为疾病机制的研究提供了途径，为临床治疗试验打开了大门。
