Shan D E, Soong B W, Yeh S I, Cheng C H, Wu Z A
Neurological Institute, Veterans General Hospital, Taipei, Taiwan.
Clin Neurol Neurosurg. 1997 Dec;99(4):244-7. doi: 10.1016/s0303-8467(97)00102-9.
The diagnosis of Huntington's disease (HD) can be confirmed by detecting the expanded CAG repeat in the IT15 gene. Besides chorea, patients with HD may present with a variety of bizarre involuntary movements, resulting in confusion in making the diagnosis. Under such conditions, genetic analysis is the final confirmatory test. To determine if any patient with involuntary movements of undetermined etiology might be related to HD, we did genetic analysis on 22 patients and identified three with expanded CAG repeat. We could not obtain family history of HD in these patients due to adoption, early death of parents, or a vague history. All three patients were among the group with generalized chorea, but one had additional marked dystonic posturing. Together with four clinically recognizable HD patients, the relative frequency of HD among the 103 patients with choreiform movements in this hospital is 6.8%.
亨廷顿舞蹈病（HD）的诊断可通过检测IT15基因中CAG重复序列的扩增来确诊。除了舞蹈症外，HD患者可能还会出现各种怪异的不自主运动，这使得诊断变得困难。在这种情况下，基因分析是最终的确证性检测。为了确定任何病因不明的不自主运动患者是否可能与HD有关，我们对22例患者进行了基因分析，发现其中3例存在CAG重复序列扩增。由于领养、父母早亡或病史模糊，我们无法获得这些患者的HD家族史。所有3例患者均属于全身性舞蹈症组，但其中1例还伴有明显的肌张力障碍姿势。加上4例临床可识别的HD患者，本院103例有舞蹈样动作的患者中HD的相对发生率为6.8%。
