Gasser T, Windgassen K, Bereznai B, Kabus C, Ludolph A C
Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-University, Munich, Germany.
Ann Neurol. 1998 Jul;44(1):126-8. doi: 10.1002/ana.410440119.
Recently, the mutation causing early-onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate-binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5 patients, the disease presented as a dystonic writer's cramp during late childhood or adolescence, which affected sequentially both sides but did not progress to a generalized form of dystonia. We conclude that familial writer's cramp may be a manifestation of the DYT1 mutation.
最近，已确定导致早发性全身性扭转肌张力障碍的突变是一种名为扭转蛋白A的三磷酸腺苷结合蛋白基因中的GAG缺失。我们描述了一个德国家庭，有5名临床受影响个体携带这种突变。在这5名患者中，至少有4名患者在儿童晚期或青少年期出现肌张力障碍性书写痉挛，双侧先后受累，但未发展为全身性肌张力障碍。我们得出结论，家族性书写痉挛可能是DYT1突变的一种表现。
