Valente Enza Maria, Albanese Alberto
CSS-Mendel Institute viale Regina Margherita 261, 00198 Rome Italy.
F1000 Biol Rep. 2010 Jun 16;2:41. doi: 10.3410/B2-41.
Knowledge about the genetics of primary torsion dystonia (PTD) has been progressing at a very slow pace compared with other movement disorders. For many years, only one causative gene was known, DYT1/TOR1A, yet the recent identification of a second PTD causative gene (DYT6/THAP1), the detection of subclinical alterations caused by mutations in PTD genes in some healthy non-penetrant individuals, and functional studies on TOR1A and THAP1 protein products have significantly improved mutation detection, genotype-phenotype correlates, and our understanding of the cellular mechanisms underlying the development of dystonia.
与其他运动障碍相比，原发性扭转性肌张力障碍（PTD）的遗传学知识进展非常缓慢。多年来，已知的致病基因只有一个，即DYT1/TOR1A，但最近发现了第二个PTD致病基因（DYT6/THAP1），在一些健康的非外显个体中检测到PTD基因突变引起的亚临床改变，以及对TOR1A和THAP1蛋白产物的功能研究，显著改善了突变检测、基因型-表型相关性，以及我们对肌张力障碍发生的细胞机制的理解。
