Creutzfeldt-Jakob 病的诊断新进展

Creutzfeldt-Jakob病(CJD)为1920年和1921年由Creutzfeldt和Jakob先后报道的，是以迅速进展的痴呆为特征，伴有共济失调、肌阵挛、视力障碍、锥体系及锥体外系受损的症状和体征的一组病例。其发病率为1／100万，是人类最常见的朊蛋白病之一，为异常的朊蛋白(prP^se)在脑内沉积所致。该病主要分为4型，即散发型、家族型、医源型和新变异型。目前只有神经病理检查或用免疫组化方法证实在人脑组织中有异常PrP^se沉积才能确诊。     

散发性Creutzfeldt-Jakob病1例报告

Creutzfeldt-Jakob病(CJD)临床诊断困难,既往认为非病理不能诊断CJD,但由于本病的致死性和可传递性,目前一些学者强调更应重视CJD的临床诊断。现报告临床诊断的CJD1例如下。1病例男,67岁。因进行性肢体笨拙、视物模糊、发呆、言语零乱1个月于2004年9月20日入院。患者于入院前1个月无诱因出现头晕、视物模糊、双手持物困难、步态不稳,呈进行性加重,且渐出现记忆力减退、发呆、不认识家人、言语零乱、躁动不安、大小便溺身和左侧肢体抽动。发病第16d外院查脑电图示双侧弥漫性δ波,先后按“脑血管病”和“中枢神经系统感染”治疗均无好转…     

散发性Creutzfeldt-Jakob病30例临床分析

目的探讨散发性Creutzfeldt-Jakob病(sCJD)的临床、脑电图(EEG)及影像学特征。方法回顾性分析30例sCJD患者的临床资料。结果本组急性起病6例,亚急性起病18例,在发病1～3个月出现意识障碍、肌阵挛、去皮质强直状态;慢性起病6例,发病后1～2年出现上述典型症状。本组患者EEG均异常,早期表现广泛持续性慢波,中晚期出现典型三相波18例、不典型三相波8例。本组MRI表现双侧基底节区T2WI对称性高信号10例,右侧豆状核高信号1例;17例行MR弥散加权成像(DWI)扫描,均出现一侧或两侧额顶叶和/或枕叶皮质高信号,其中8例合并双侧基底节区对称性高信号。结论sCJD以亚急性起病多见,早期头颅DWI即可出现特征性额顶叶和/或基底节区高信号,为早期临床诊断提供依据;中晚期均出现意识障碍、肌阵挛、去皮质状态,EEG特征为三相波。     

Creutzfeldt-Jakob病二例

1临床资料例1:男性,65岁,因“四肢活动不灵活1个月,言语欠流利半个月”于2004-08入作者医院。入院前1个月无明显诱因出现四肢麻木、复视,并逐渐出现视物模糊,四肢不自主抽动、阵挛且逐渐加重,继而出现幻听、幻视、恐惧等精神症状,多于晚间发作,每次持续40 min至1 h不等。既往有     

家族性Creutzfeldt-Jakob病

目的确定家族性Creutzfeldt—Jakob病（CJD）的临床特点并探讨其可能的发病机制。方法对一个CJD家系进行系谱调查,并采用蛋白捕获法进行脑脊液14-3—3蛋白定量;应用PCR方法,结合DNA测序技术,检测朊蛋白（PrP）基因类型。结果（1）两代4例的发病年龄早于散发性CJD,而且有早发的趋势;（2）先证者脑脊液14-3—3蛋白为125ng／ml,高出截点13．9。倍;（3）先证者PRNP第788碱基和789碱基之间插入1个碱基A,致使PRNP第231位点发生插入突变;（4）患者弟弟及其女儿未发现有PrP基因突变。结论先证者为PRNP第231位点插入突变致家族性CJD,其临床表型与散发性CJD无明显不同,但发病年龄早于散发性CJD,同一家系患者死于同一年龄段。     

Creutzfeldt-Jakob病诊断方法的新进展

克-雅病(Creutzfeldt—Jakob disease，CJD)是朊蛋白病(prion disease)最常见类型，是一组既有传染性又有遗传性的变性病。分为散发性(sporadic CJD，sCJD)、遗传性(genetic CJD，gCJD)、医源性(iatrogenic CJD，iCJD)及变异型(variant CJD，vCJD)，潜伏期长、预后凶险。如何早期诊断，从而预防医源性及畜源性传染，是全世界关注的焦点。     

散发性Creutzfeldt-Jakob病头部磁共振表现

目的 探讨散发性Creutzfeldt-Jakob病(sCJD)头部磁共振的表现及其与临床的关系。方法 对10例sCJD于病后第2—12个月进行头部磁共振扫描，其中脑活检证实6例，14-3-3蛋白检测8例，脑电特异性改变8例及朊蛋白基因分析8例。结果5例双侧尾状核、壳核于T2，加权像或Flair像呈对称性高信号，苍白球与丘脑正常，T1加权像无改变；2例脑萎缩，1例少许脑腔隙梗死，另有2例正常。结论 (1)4例甲硫氨酸纯合型(129Met／Met)底节T2异常信号发现时间平均2．5个月，存活时间平均10．5个月；1例甲硫氨酸杂合型(129Met／Val)底节异常信号发现时间为12个月，存活时间为16个月；(2)底节T2异常信号者平均病程为12．2个月，长于底节无异常信号者(平均5．5个月)；(3)双侧尾核、壳核T2加权像对称性高信号是sCJD重要影像学改变，在特定的临床背景下为sCJD临床诊断依据之一。     

Creutzfeldt-Jakob病1例报告

Creutzfeldt-Jakob病(CJD)是可传播的致命性中枢神经系统疾病,以快速进展性痴呆及大脑皮质、基底节和脊髓局灶性病变为特征,是常见的人类朊蛋白病,又称为皮质-纹状体-脊髓变性(cortieostriatospinal degeneration)。朊蛋白病 (朊粒疾病)属于新发传染病范畴,具有一定的传染性,目前已证实CJD与疯牛病密切相关。按世界卫生组织要求,中国卫生部与国家疾病控制中心决定,自2003年起我国将有组织有计划地开展对CJD的全面监控。为了提高对该类少见病     

散发性Creutzfeldt-Jakob病的临床和影像学特点

目的探讨散发性Creutzfeldt-Jakob病(sCJD)的临床和影像学特点。方法回顾性分析4例sCJD患者的临床资料。结果4例sCJD患者均表现为亚急性起病,进行性痴呆,伴有肌阵挛;头颅MRI显示对称性或非对称性大脑皮质彩带样和(或)基底节弥散加权成像(DWI)高信号。结论sCJD的临床特点为进展性痴呆伴肌阵挛,头颅MRI特别是DWI出现高信号为其病变特点。     

脑脊液及血清tau蛋白的检测对散发性Creutzfeldt-Jakob病的诊断价值

脑脊液tau蛋白检测可能为散发性Creutzfeldt-Jakob病（CJD）辅助诊断指标之一。但是，国人CJD与西方不同，推测其含量也可能有若干区别。     

Creutzfeldt-Jakob病5例临床研究

目的　通过临床病例和实验室资料的总结 ,提高对CJD的认识和诊断水平。方法　对 5例CJD病患者的临床表现、影像学特点、脑电图改变、病理学变化、动物接种和基因检测等资料进行分析和总结。结果5例均为亚急性起病 ,有迅速进展的痴呆和肌阵挛 ,1例MRI显示双侧尾状核长T2 信号 ,脑电图均明显异常。 3例病理检查均符合典型CJD的病理学特点。结论　应当提高临床医师对本病的认识 ,根据典型的临床和EEG表现 ,特别是MRI特点以及CSF中 14- 3- 3蛋白的检测 ,争取实施无创性检查 ,以早期作出诊断     

散发型Creutzfeldt-Jakob病的临床、病理及头颅核磁DWI影像特点研究

目的 探讨散发型Creutzfeldt-Jakob病（sCJD）的临床、病理、头颅核磁影像学特点和内在关系，分析弥散加权成像（DWI）的诊断价值。方法 对3例sCJD患者的临床特征、病理改变和头颅核磁DWI异常信号进行分析。结果 3例患者DWI病变主要分布于皮层及纹状体。皮层异常信号首先出现与临床先有智能下降符合。DWI对于早期发现特异的皮层和基底节高信号优于传统核磁的T1WI、T2WI及FLAIR技术。DWI异常发现早于典型脑电图改变。在DWI异常信号显著部位所取活检组织病理改变显著。在DWI提示下，早期行脑活检可明显缩短确诊时间。结论 头颅核磁DWI技术可早期发现皮层及基底节异常信号，具有无创、快捷优点，有助于sCJD早期诊治。     

Real-Time Quaking-Induced Conversion Analysis for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in Korea

MethodsThis study applied a highly sensitive RT-QuIC assay using recombinant human PrP to detect PrP^Sc in the CSF of 81 patients with sporadic CJD (sCJD) in Korea.ResultsRT-QuIC analysis of the CSF samples based on the expression levels of 14-3-3 and total tau proteins revealed positivity in 62 of 81 sCJD patients (sensitivity of 76.5%) but no positive results in the 100 non-CJD patients.ConclusionsThe sensitivity of the RT-QuIC in this study was similar to that in some previous reports, and the specificity of RT-QuIC was higher than that of 14-3-3 in CSF, suggesting that RT-QuIC analysis can complement the weakness of the specificity of 14-3-3 for the diagnosis of sCJD. These results indicate that RT-QuIC might be very useful for the rapid and specific diagnosis of sCJD and provide a practical novel method for the ante-mortem diagnosis of human prion diseases.     

散发性CJD患者新的潜在标志物H-FABP的检测

目的通过检测散发性CJD患者血清和脑脊液中心脏型脂肪酸结合蛋白(H—FABP)的含量,来探索 H—FABP对于CJD生前诊断的意义。方法应用ELISA方法对我科1998年～2005年收集的散发性CJD患者血清 13例和脑脊液17例进行H—FABP检测,同时设立正常对照组,进行统计学分析。结果散发性CJD患者血清及脑脊液H—FABP浓度均较正常对照组高,具有统计学意义。结论作为散发性CJD新的潜在生物学标志物H—FABP 的检测结果有助于该病的生前诊断,进行血液筛查也能降低CJD通过输血进行医源性传播的危险性。     

Virus-like particles in brain tissue from two patients with Creutzfeldt-Jakob disease

Summary Particles resembling virions observed in brain biopsies of two patients with Creutzfeldt-Jakob disease were located almost exclusively in the cytoplasm of the astrocytes which were swollen and showed accumulations of glia fibres, sometimes the cell bodies of the astrocytes were destroyed.

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Zusammenfassung Virusähnliche Partikel wurden in Gehirnbiopsien von zwei Patienten mit Creutzfeldt-Jakobscher Krankheit beobachtet. Diese Partikel fanden sich fast ausschließlich im Cytoplasma von Astrocyten, die eine Konzentration von Gliafilamenten, Schwellung oder sogar Desintegration zeigten.

     

Creutzfeldt-Jakob病的免疫组织化学研究

４例Ｃｒｅｕｔｚｆｅｌｄｔ－Ｊａｋｏｂ病（ＣＪＤ）的新鲜脑组织石腊切片用改进的免疫组织化学染色，均呈突触型阳性。不仅证实诊断正确，而且为研究国人ＣＪＤ的分子生物学与临床病理的联系提供了依据。     

Sensory features of variant Creutzfeldt-Jakob disease

Objective: Sensory symptoms are a prominent feature of variant Creutzfeldt-Jakob disease (vCJD), occurring at an early stage of the illness. They are persistent and can be troublesome. Here, they are described in detail and a possible anatomical basis is discussed. Methods: The first 50 cases of vCJD confirmed by the National CJD Surveillance Unit (NCJDSU) were reviewed. Where possible the patients and their relatives were interviewed and case notes were examined. The presence and nature of sensory symptoms and signs were noted. Results of investigation and types of treatment offered were also reviewed. Results: Of 50 definite cases, 64 % had persistent sensory symptoms, 16 % had no sensory symptoms and 18 % were uncertain. In 2 % there was insufficient information. Of the 32 with definite symptoms, 31 % were symptomatic from the onset of the illness. The symptoms were varied and some patients complained of more than one type of symptom. Limb pain was described in 63 % cases. This was the most common symptom and was often non-specific and poorly localised, usually occurring in the lower limbs. Other symptoms included cold feelings (25 % patients), dysaesthesia (28 % patients), paraesthesia (31 % patients) and numbness (25 % patients). The symptoms were lateralised in 31 % of patients. Conclusions: Sensory symptoms are a prominent feature of vCJD, occurring in nearly two thirds of cases. They may help distinguish variant from sporadic CJD. They are likely to be of thalamic origin but the recognised MRI changes in vCJD do not correlate with the presence or absence of sensory symptoms. Neuropathological changes in the thalamus, however, show marked astrocytosis and neuronal loss. Received: 16 July 2001, Received in revised form: 24 October 2001, Accepted: 7 November 2001     

Creutzfeldt－Jakob病与Alzheimer病并存

本文报告１例病程长达１２年，经组织病理与免疫组化染色方法证实的Ｃｒｅｕｔｚｆｅｌｄｔ－Ｊａｋｏｂ病与Ａｌｚｈｅｉｍｅｒ病并存病例。     

Unusual clinical course in a case of Creutzfeldt-Jakob disease

An unusual clinical course of Creutzfeldt-Jakob Disease (CJD) is described. After a rapid progression to coma, the patient has survived for 16 months to date. To our knowledge a terminal, preagonal stage of this duration in CJD has never been reported. Since Methisoprinol was administered, the drug may have had a beneficial effect on the duration of the disease.Two and half months after the submission of this paper, the patient died. Histological examination confirmed the clinical diagnosis of CJD.     

国人Creutzfeldt—Jakob病PrP基因表达变化的研究

目的探讨国人朊病毒病PrP基因变异与临床病理变化的关系及同欧亚病例的对比。方法取5例散发型Creutzfeldt－Jakob病（CJD）患者静脉血提取DNA，以多聚酶联反应（PCR）扩增PrP基因，用7种限制性内切酶酶切密码子102、105、129、145、178、180、200、219和232位点及DNA序列测定，并设14例非CJD痴呆和16例健康人为对照。结果发现3组中各1例具密码子129多态性，为缬氨酸／甲硫氨酸杂合子，其余均为甲硫氨酸纯合子，无缬氨酸129纯合子。结论国人CJD患者PrP基因变异及其相关的临床特征与欧洲患者不同。