Brancati Francesco, Defazio Giovanni, Caputo Viviana, Valente Enza Maria, Pizzuti Antonio, Livrea Paolo, Berardelli Alfredo, Dallapiccola Bruno
Istituto C.S.S. Mendel, Rome, Italy.
Mov Disord. 2002 Mar;17(2):392-7. doi: 10.1002/mds.10077.
We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYT1, DYT6, DYT7, and DYT13), and the 3-bp deletion in the DYT1 gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family.
我们报告了一个患有成人起病的原发性扭转性肌张力障碍（PTD）的意大利家族。对六名明确患病的家庭成员进行的详细临床检查显示出一种轻度的、纯粹局灶性的表型。该疾病仅累及一个身体部位（眼睛、颈部或手臂）。这个家族中的PTD与已知的疾病基因座（DYT1、DYT6、DYT7和DYT13）没有关联，并且DYT1基因中的3碱基缺失也被排除。这些发现支持了PTD的遗传异质性，并表明一个新的未定位基因是该家族局灶性肌张力障碍的病因。
