亨廷顿病一家系的IT15基因、头颅磁共振成像及病理学特征分析  

Analysis of IT15 gene, brain magnetic resonance imaging, and pathology features from one family with Huntington＇s disease

作　　者：曹娴[1] 王祖峰[2] 李利[1] 周旭平[1] 罗蔚锋[1] 范国华[3] 林芳[4] 张迎春[5] 刘晶[1] 

机构地区：[1]江苏省苏州大学附属第二医院神经内科,215004 [2]苏州大学医学部法学系苏州大学司法鉴定所 [3]苏州大学附属第二医院影像科 [4]苏州大学医学院药理学教研室 [5]苏州大学附属第二医院超声科

出　　处：《中华神经科杂志》2014年第7期496-500,共5页Chinese Journal of Neurology

摘　　要：目的 探讨亨廷顿病一家系的IT15基因、头颅影像学及病理学特征.方法 收集亨廷顿病一家系2例患者的临床资料,采用巢式PCR方法对其IT15基因含CAG重复序列部分进行扩增,对先证者进行头颅CT、MRI和经颅超声检查,在先证者死亡后取得家属的知情同意,行尸体解剖及组织病理学检测.结果 2例亨廷顿病患者IT15基因CAG重复数均＞40.先证者早期头颅CT显示脑萎缩,脑室系统扩大,脑沟裂池增宽、加深.后期头颅MRI显示全脑萎缩,并出现裂隙征样及蜂鸟征出现.经颅超声发现黑质呈均匀分布的低回声,双侧丘脑水平可见豆状核呈稍强回声.尸体解剖发现全脑萎缩,脑室明显扩大.病理结果示大脑皮质外层、尾状核和壳核内神经细胞减少,胶质细胞增生.结论 亨廷顿病患者的IT15基因含异常扩展的CAG重复序列,头颅MRI、脑部病理学改变分别以脑萎缩（尤其是额、颞、顶叶,尾状核、壳核和中脑）和胶质细胞增生为主要表现.Objective To analyse the IT15 gene,brain CT,MRI,and pathology features from one family with Huntington＇s disease （HD）.Methods Nest-PCR method was used in two patients with HD from this family to amplify the IT15 gene of CAG repetitive sequence.The proband underwent CT,MRI,transcranial ultrasound （TCS） examinations,autopsy and pathological detection.Results The number of two HD patients with CAG repeats was greater than 40,and early proband head CT showed brain atrophy,ventricular system expansion and sulci cistern widening,deepening.Patients with advanced head MRI showed global brain atrophy,crack-like signs and hummingbirds.TCS showed that hypoecho evenly distributed in the substantia nigra,and slightly stronger echo was seen in the bilateral putamen at the hypothalamic level.Whole-brain atrophy and ventricular expansion were found in autopsy.Pathology showed that the neurons were decreased in the outer cortex,caudate nucleus and putamen with gliosis.Conclusion The IT15 gene in the patients with HD contains expanded CAG repeats.MRI and brain pathology show cerebral atrophy,especially in the frontal,temporal,parietal lobe,caudate nucleus,putamen and midbrain,with the proliferation of glial cells.

关 键 词：杭廷顿病 神经组织蛋白质类 磁共振成像 脑 萎缩 

分 类 号：R596[医药卫生—内科学]