Ritz Katja, Groen Justus L, Kruisdijk Jose J M, Baas Frank, Koelman Johannes H T M, Tijssen Marina A J
Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.
Mov Disord. 2009 Jul 15;24(9):1390-2. doi: 10.1002/mds.22632.
Task-specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers.
特定任务性局灶性上肢肌张力障碍可能是不同类型遗传性肌张力障碍表型谱的一部分。我们调查了43例以书写痉挛为首发症状的患者是否存在DYT11、DYT16突变或DYT1基因GAG缺失。未发现DYT11和DYT16突变。1例患者携带DYT1基因的GAG缺失。在我们的队列中，以书写痉挛为首发症状与DYT11、DYT16突变无关，但它可能是DYT1基因GAG缺失突变携带者的唯一表现形式。
