Burgunder Jean-Marc
Swiss Huntington's Disease Centre, Department of Neurology, Department of Clinical Research, University of Bern, Switzerland; Department of Neurology, West China Hospital, Sichuan University, Chengdu, China; Xiangya Hospital, Central South University, Changsha, Sun Yat Sen University, Guangzhou, China.
Drug Discov Today. 2014 Jul;19(7):985-9. doi: 10.1016/j.drudis.2014.03.005. Epub 2014 Mar 18.
Huntington's disease is the most frequent form of the hereditary choreas and has a multifaceted phenotype including cognitive and psychiatric impairment. The disorder is due to a dynamic mutation, which also influences the onset age of the disorder. Other genetic modifiers of the HD phenotypes have been suggested but often not confirmed by independent studies. Several syndromes with similar presentation have different genetic backgrounds, including the neuroacanthocytoses, mainly choreoacanthocytosis and MacLeod syndrome as a result of mutations in chorein and Kell protein, respectively, but also benign hereditary chorea, owing to mutations in NKX-2-1, and paroxysmal kinesigenic dyskinesia, as a result of recently found mutations in the proline-rich transmembrane protein 2, PRRT2. Chorea can also be a major feature in other neurogenetic disorders, including the spinocerebellar ataxias and also in neurometabolic disorders.
亨廷顿舞蹈症是遗传性舞蹈病最常见的形式，具有多方面的表型，包括认知和精神障碍。该疾病是由动态突变引起的，这种突变也会影响疾病的发病年龄。虽然有人提出了亨廷顿舞蹈症表型的其他基因修饰因子，但往往未得到独立研究的证实。几种表现相似的综合征具有不同的遗传背景，包括神经棘红细胞增多症，主要是舞蹈病棘红细胞增多症和麦克劳德综合征，分别是由于 chorein 和凯尔蛋白发生突变所致，还有良性遗传性舞蹈病，是由 NKX-2-1 基因突变引起的，以及发作性运动诱发性运动障碍，是由于最近发现富含脯氨酸的跨膜蛋白 2（PRRT2）发生突变所致。舞蹈症也可能是其他神经遗传性疾病的主要特征，包括脊髓小脑共济失调，以及神经代谢疾病。
