β淀粉样蛋白_（1-42）促进转染人α-突触核蛋白A53T突变基因的PC12细胞内α-突触核蛋白的表达

目的：探讨β淀粉样蛋白1-42（Aβ1-42）促进转染人α-突触核蛋白（α-Syn）A53T突变基因的PC12细胞（A53T细胞）内α-Syn的表达及维生素C对A53T细胞保护作用的机制。方法：对高表达α-Syn的A53T细胞分别采用PBS、Aβ1-42和Aβ1-42＋维生素C干预。用MTT法检测细胞活性和Western blot检测不同干预后A53T细胞α-Syn表达量。结果：①随着Aβ1-42浓度增加,细胞活性呈浓度依赖性降低;维生素C可减轻细胞损伤。②Western blot检测结果提示维生素C可减轻α-Syn的谱带密度;Aβ1-42干预后A53T细胞内α-Syn表达量相对值为（0.76±0.13）,维生素C干预后α-Syn表达量相对值为（0.23±0.08）,两者差异有统计学意义（P〈0.01）。结论：Aβ1-42可导致高表达α-Syn的A53T细胞损伤,并促进α-Syn的表达;维生素C可部分拮抗该效应,对神经细胞具有一定的保护作用。     

MRI环形增强的颅内占位病例讨论

病例资料患者住院号:699×××,女性,42岁,汉族,福建省人。因"头痛1个月,反复肢体抽搐25 d"于2011年4月11日入住复旦大学附属华山医院(我院)神经科。现病史1个月前(2011-03-10)患者因过度疲劳后出现持续性头痛,为弥漫性胀痛,伴恶心、呕吐1次(非喷射性,为胃内容物)。疼痛可忍受,无畏光、畏声,无视物变形,无发热。2011-03-15患者头痛加重,伴畏寒、     

中国汉族人群CACNA1A基因CAG重复数目分布特点及其在脊髓小脑性共济失调6型基因诊断中的应用

目的 探讨我国汉族人群CACNA1A基因CAG重复数目分布特点及其在脊髓小脑性共济失调6型(spinocerebellar ataxias type 6,SCA6)基因诊断中的应用.方法 应用"两步PCR法"、变性聚丙烯酰胺凝胶电泳(DPAGE)和测序等方法对300名健康对照及109例无血缘关系的SCA患者进行CACNA1A基因CAG三核苷酸重复数目分析.结果 300名健康对照的CAG重复次数范围为3～18次,以13次最常见.在109例SCA患者中,发现1例SCA6患者,其CAG异常重复次数为24次,该患者的母亲和哥哥亦为SCA6患者,临床上均表现为缓慢进展的小脑性共济失调、构音障碍、眼震、轻度的振动及本体觉减退,遗传早现现象较明显.结论 SCA6病例在我国较少见,进行CACNA1A基因突变分析有助于临床诊断."两步PCR法"可提高CACNA1A基因突变分析的效率.     

[^11C]-β-CFT脑多巴胺转运体PET显像在帕金森病诊断中的应用

目的:探讨[11C]-β-CFT多巴胺转运体(DAT)PET显像在帕金森病(PD)早期诊断及病情严重度评估的应用价值.方法:对早期PD组,晚期PD组和正常对照组进行[11C]-β-CFT基底节区DAT PET显像,比较3组间基底节DAT摄取指数差异,分析PD组基底节区DAT摄取指数与UPDRS评分的相关性.结果:PD患者基底节区DAT摄取指数显著降低;其中单侧PD患者症状/同侧基底节区DAT摄取指数明显低于对照组.PD组基底节各亚区DAT摄取指数与UPDRS运动评分呈显著负相关.结论:[11C]-β-CFT基底节DAT PET显像有助于PD的早期诊断及病情严重度的评估.     

帕金森病患者不同脑区质子磁共振波谱研究

目的:探讨~1H-MRS对早期PD的诊断价值。方法:采用~1H-MRS技术检测早期PD、晚期PD、帕金森综合征、偏侧ET以及年龄匹配的正常对照组基底节区和皮质运动区感兴趣区的NAA/Cr和Cho/Cr比值。结果:早期或晚期PD、偏侧ET及帕金森综合征患者受累较重基底节区或运动皮质区NAA/Cr及Cho/Cr比值与受累较轻侧相比无显著性差异;上述各组患者受累较重基底节区或运动皮质区NAA/Cr及Cho/Cr比值与正常对照组相应感兴趣区NAA/Cr及Cho/Cr比值相比也均无显著性差异。结论:~1H-MRS无助于早期PD的诊断。     

人野生型和A53T突变型α-突触核蛋白慢病毒表达载体的构建及在PC12细胞中的转染

为构建长期稳定表达人野生型和A53T突变型α-突触核蛋白的PC12细胞株,我们首先制备了慢病毒表达载体,经测序鉴定正确后转染PC12细胞,然后通过细胞的免疫荧光染色检测α-synuclein-V5融合蛋白,PCR法扩增转基因PC12细胞的SNCA片段后进行测序检测突变基因,以及Western blot法检测PC12细胞α-synuclein的表达,从而鉴定转基因细胞能否稳定表达目的基因。结果显示:经测序,pLenti6/V5-SNCA-WT和pLenti6/V5-SNCA-A53T表达质粒构建成功;免疫荧光染色示基因转染后,超过95%的PC12细胞中有α-synuclein-V5融合蛋白表达;转基因细胞的SNCA片段测序结果显示,慢病毒表达载体成功整合入PC12细胞基因组;Western blot法检测结果示转基因PC12细胞能够过表达α-synuclein蛋白。以上结果表明我们已成功构建了人野生型和A53T突变型α-突触核蛋白慢病毒表达载体,并且成功建立了稳定的过表达人野生型和A53T突变型α-突触核蛋白的PC12细胞株,这为进一步研究α-突触核蛋白的生理功能及其在Parkinson病发病机制中的作用奠定了基础。     

共济失调-神经棘红细胞病(附3例报道)

目的:报道3例散发性神经棘红细胞病患者的临床表现。方法:对经电镜证实的3例外周血红细胞中棘红细胞>5%患者的临床表现和分型,结合复习相关文献予以分析。结果:神经棘红细胞病3例,其中男2例、女1例;年龄35~79岁,平均年龄(56.6±22.0)岁;平均病程(2.6±1.0)年(7个月至5年)。均为隐匿起病,缓慢进展,表现为明显的小脑共济失调体征和步态。MRI示小脑萎缩。1例伴智能减退和异动症,1例高密度脂蛋白高于正常。扫描电镜发现3例患者周围血红细胞中,棘红细胞均>5%。结论:散发性小脑性共济失调的成人患者应考虑神经棘红细胞病可能。     

胰岛素对百草枯诱导的PC12细胞的保护作用

Objective To observe dopamine (DA) D2R protein expression in the cultured PC 12 cells and the effect of insulin on the survival rate,morphology,and DA of paraquat (PQ)-induced PC12 cells. Methods Immunoprecipitate Western blotting method was performed to observe DA D2R protein expression in PC 12 cells,MTT assay was used to analyze the changes in viability and morphology of PC 12 ceils which were exposed to different concentrations of PQ and insulin. Results (1) DA D2R protein was expressed in PC 12 ceils. (2) Normal PCI2 cells bodies showed fusiform shape and the synapses were in-tegrity. The cells which were exposed to the 600 μmol/L PQ became ball-like, vacuolar degeneration oc-urred,and the synapse became shorter or disappeared. But the morphology of PC12 cells had a little difference between the normal PC12 and the insulin groups,except that the cells were fusiform shape or a-nomalism but not round shape,and the synapses grew. (3) With the increase of the concentration of PQ, the viability of the cells was decreased. Insulin increased the viability of the ceils which were exposed to 600 μmol/L PQ. Insulin elevated DA concentration both in the normal PC12 cells and those exposed to 600 μmol/L PQ,but there was no significant difference ( P > 0.05 ). Conclusion Insulin could protect the PC12 dopaminergic neurons from injury induced by PQ.     

原发性帕金森病的诊断标准（2005年）

考虑本病时必须同时具备3个条件:1.中年、老年人中逐渐出现进行性加重的活动和动作缓慢,持久活动后动作更慢、幅度更小。2.颈和(或)肢体肌张力增高。3.4～6Hz的静止性震颤或姿势不稳。确诊本病时必须在上述条件中再附加至少3个或3个以上的下列条件:1.偏侧肢体起病。2.一侧肢体受累后,较长时间才扩散到另一侧肢体,病情呈现明显不对称性。3.良好的左旋多巴试验反应(评分记分法判断,可好转70%以上)。4.左旋多巴制剂的良好疗效可持续5年以上。5.病程中体征呈现十分缓慢地进行性加重,但病程至少9年以上。6.PET、SPECT检查显示黑质纹状体区多…     

胰岛素对百草枯诱导的PC12细胞的保护作用

Objective To observe dopamine (DA) D2R protein expression in the cultured PC 12 cells and the effect of insulin on the survival rate,morphology,and DA of paraquat (PQ)-induced PC12 cells. Methods Immunoprecipitate Western blotting method was performed to observe DA D2R protein expression in PC 12 cells,MTT assay was used to analyze the changes in viability and morphology of PC 12 ceils which were exposed to different concentrations of PQ and insulin. Results (1) DA D2R protein was expressed in PC 12 ceils. (2) Normal PCI2 cells bodies showed fusiform shape and the synapses were in-tegrity. The cells which were exposed to the 600 μmol/L PQ became ball-like, vacuolar degeneration oc-urred,and the synapse became shorter or disappeared. But the morphology of PC12 cells had a little difference between the normal PC12 and the insulin groups,except that the cells were fusiform shape or a-nomalism but not round shape,and the synapses grew. (3) With the increase of the concentration of PQ, the viability of the cells was decreased. Insulin increased the viability of the ceils which were exposed to 600 μmol/L PQ. Insulin elevated DA concentration both in the normal PC12 cells and those exposed to 600 μmol/L PQ,but there was no significant difference ( P > 0.05 ). Conclusion Insulin could protect the PC12 dopaminergic neurons from injury induced by PQ.