Bressman S
Beth Israel Medical Center, Department of Neurology, Albert Einstein College of Medicine, New York, NY 10003, USA.
J Neural Transm Suppl. 2006(70):489-95. doi: 10.1007/978-3-211-45295-0_73.
Primary torsion dystonia (PTD) has a broad clinical spectrum, with earlier onset of symptoms associated with more generalized muscle involvement. The causes for most dystonia are unknown although several monogenic subtypes have been identified. One important genetic cause of PTD is DYT1; a three base pair deletion in this gene is a major cause for early-onset dystonia. Its identification has allowed the development of cellular and animal models; it has also permitted studies that identify both "manifesting" and "non-manifesting" DYT1 mutation carriers. These studies have expanded our understanding of clinical expression to include psychiatric symptoms and also have enabled imaging studies of endophenotypes. These advances provide a widened platform for future research.
原发性扭转性肌张力障碍（PTD）具有广泛的临床谱，症状出现越早，肌肉受累越广泛。尽管已经确定了几种单基因亚型，但大多数肌张力障碍的病因尚不清楚。PTD的一个重要遗传原因是DYT1；该基因中的一个三碱基对缺失是早发性肌张力障碍的主要原因。它的鉴定使得细胞和动物模型得以开发；它还允许进行识别“显性”和“非显性”DYT1突变携带者的研究。这些研究扩展了我们对临床表型的理解，将精神症状纳入其中，还使得对内表型进行影像学研究成为可能。这些进展为未来的研究提供了更广阔的平台。
