18p缺失综合征中肌张力障碍的特征，包括1例新病例。
Characteristics of dystonia in the 18p deletion syndrome, including a new case.
作者信息
Postma Anna G, Verschuuren-Bemelmans Corien C, Kok Klaas, van Laar Teus
机构信息
Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
出版信息
Clin Neurol Neurosurg. 2009 Dec;111(10):880-2. doi: 10.1016/j.clineuro.2009.07.013. Epub 2009 Aug 20.
Objective of the present study was to evaluate the possible pathophysiology and clinical characteristics of dystonia in patients with the 18p deletion syndrome by describing a new case and reviewing the literature. Dystonia in patients with the 18p deletion syndrome seems to present heterogeneously with a variable age of onset and distribution of symptoms. It may be accompanied with white matter lesions on the MRI. Deletion of 2 known dystonia loci on chromosome 18p, DYT7 and DYT15, or the deletion of another dystonia gene just above the centromere of chromosome 18p may be the cause of dystonia in patients with the 18p deletion syndrome. However, dystonia may also be secondary to structural brain changes often seen in patients with the 18p deletion syndrome.
本研究的目的是通过描述一例新病例并复习文献，评估18p缺失综合征患者肌张力障碍的可能病理生理学和临床特征。18p缺失综合征患者的肌张力障碍似乎表现各异，发病年龄和症状分布各不相同。它可能在磁共振成像（MRI）上伴有白质病变。18号染色体短臂（18p）上2个已知的肌张力障碍基因座DYT7和DYT15的缺失，或18号染色体短臂着丝粒上方另一个肌张力障碍基因的缺失，可能是18p缺失综合征患者肌张力障碍的病因。然而，肌张力障碍也可能继发于18p缺失综合征患者常见的脑部结构改变。
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