脑内铁沉积神经变性病临床特点及PLA2G6基因突变研究  

Clinical features and mutation analysis of PLA2G6 gene in patients with neurodegeneration with brain iron accumulation

作　　者：李倩[1] 吴珊[1] 田锦勇[2] 郭纪锋[3] 唐北沙[3] 

机构地区：[1]贵阳医学院附属医院神经内科,贵州贵阳550000 [2]贵州省人民医院神经内科,贵州贵阳55000 [3]湘雅医院神经内科,湖南长沙410000

出　　处：《中风与神经疾病杂志》2013年第4期292-294,共3页Journal of Apoplexy and Nervous Diseases

基　　金：国家863计划项目(2006AA02A408);国家973计划项目(2006cb500700);国家自然科学基金项目资助项目(30570638;30770735;30971035;30900469)

摘　　要：目的探讨中国脑内铁沉积神经变性病(neurodegeneration with brain iron accumulation,NBIA)患者的临床特点及PLA2G6基因的突变特点。方法对3个NBIA家系、6个散发性NBIA患者的临床特点进行回顾性分析,应用聚合酶链反应(PCR)结合DNA直接序列分析方法,对NBIA患者进行PLA2G6基因突变研究。结果所有患者主要表现为锥体外系症状;头部MRI T2加权像表现双侧苍白球、黑质等部位对称性低信号,其中1家系在苍白球低信号区的前内侧出现高信号,即"虎眼征";本组NBIA患者未发现PLA2G6基因的致病突变,共发现7个多态,分别为c.C511T、c.G87A、IVS2+16C→T、IVS4+71A→G、IVS5+43C→T、IVS6+19G→A、和IVS15+55G→A,其中2个(c.C511T、IVS6+19G→A)为新发现的多态。结论根据临床和头部MRI特征可临床诊断NBIA,中国人NBIA患者PLA2G6基因突变可能罕见。Objective To investigate the clinical features and mutation characteristics of PLA2G6 gene in Chinese patients with neurodegeneration and brain iron accumulation （NBIA）. Methods Patients from 4 families with NBIA and 6 sporadic NBIA were assessed according to their clinical features. Mutations of PLA2G6 gene were screened by polymerase chain reaction combined with DNA direct sequencing. Results The main symptoms of these patients with NBIA were extra-pyramidal syndromes,T2 weighted MRI scans showed a marked low signal intensity localized to bilateral globus pallidus and substantia nigra, and in one familial patients, presenting bilateral hyperintense signal within a hypointense region in the medial globus pallidus ,the＂ eye-of-the-tiger＂ sign. No pathogenetic mutations in the PLA2G6 gene were detected in this group.Seven PLA2G6 polymorphisms （c. C511T, c. G87A, IVS2 ＋ 16C→T, IVS4 ＋ 71A→G, IVS5 ＋ 43C→T, IVS6 ＋ 19G→A and IVS15 ＋ 55 G→A） were found. Two of them （ c. C511T, IVS6 ＋ 19G→A） were not reported previously. Conclusion NBIA can be diagnosed on the basis of clinical and brain MRI. PLA2G6 mutations were rare in Chinese patients with NBIA.

关 键 词：脑内铁沉积神经变性病 PLA2G6基因 基因突变 

分 类 号：R742[医药卫生—神经病学与精神病学] R285.5[医药卫生—临床医学]