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目的明确一个无明显痴呆的舞蹈病家系的临床、影像学特征及IT15、DRPLA、JPH3、TBP基因突变情况。方法对5例已发病患者的临床及脑影像学特征进行分析;用聚合酶链反应技术、8%变性聚丙烯酰胺凝胶电泳及直接测序等方法,对18名家系成员的IT15、DRPLA、JPH3、TBP基因的三核苷酸(CAG/CTG)重复序列进行分析。结果5例患者主要表现为舞蹈样不自主运动;3例患者头颅磁共振成像无明显尾状核萎缩,其中1例头颅单光子发射计算机断层显像(SPECT)提示双侧基底节血流受损,比健康人血流灌注减少;检测到9例(5例患者,4例症状前患者)分别有一(CAG)n重复拷贝数大于40次的IT15基因,无DRPLA、JPH3、TBP基因的突变。结论根据临床和影像学特征该家系在临床上不能确诊为亨廷顿舞蹈病,但经基因突变分析确定了IT15基因中(CAG)n重复拷贝数的异常扩展导致该家系发生了亨廷顿舞蹈病。
Objective To clarify the clinical and imaging characteristics of a chorea pedigree without obvious dementia and the mutations of IT15, DRPLA, JPH3 and TBP genes. Methods The clinical and neuroimaging features of 5 patients were analyzed. Polymerase chain reaction, 8% denaturing polyacrylamide gel electrophoresis and direct sequencing were used to analyze the clinical features and imaging features of IT15, DRPLA, JPH3 , TBP gene trinucleotide (CAG / CTG) repeat sequence analysis. Results In 5 patients, there was mainly dance-like involuntary movements. There was no obvious atrophy of caudate nucleus in 3 patients, and 1 patient had single photon emission computed tomography (SPECT) suggestive of impaired bilateral basal ganglia blood flow (P <0.05), and the blood flow perfusion was lower than that of healthy people. IT15 gene was detected in 9 cases (5 patients and 4 patients with pre-symptomatic symptoms) with more than 40 repetitions per copy. There were no mutations of DRPLA, JPH3 and TBP. Conclusions The pedigree is not clinically diagnosed as having Huntington’s disease based on clinical and radiographic features. However, a gene mutation analysis identified an abnormal expansion of the (CAG) n duplication number in the IT15 gene resulting in a Huntington’s disease in the pedigree.