散发型克-雅病影像学特点与临床症状分析

散发型克雅病患者共计5例,临床主要表现为快速进展性痴呆,发病时间1～4个月。其中2例脑电图呈现特征性周期性同步放电,4例脑脊液14-3-3蛋白检测阳性。MRI扩散加权成像均显示皮质或基底节对称性或非对称性"彩带"样高信号,提示扩散加权成像对克雅病的诊断敏感且具有特异性,可作为临床首选检查方法。     

散发型克雅病7例患者的临床、脑电图及影像学分析

目的 探讨散发型克雅病(sCJD)的临床、脑电图及影像学特点。方法 回顾性分析7例散发型克雅病患者的临床表现、脑电图、影像学特点。结果 本组亚急性起病5例,慢性起病2例,主要的临床症状和体征有进行性痴呆、精神行为异常、视觉障碍、头晕、共济失调、肌阵挛、言语笨拙、锥体外系症状和锥体束征等; EEG检查均有异常,其中6例脑电图检查示典型的周期性三相波发放,1例患者入院脑电图检查未见异常波发放,1月后复查脑电图发现周期性三相波; 7例均行颅脑MRI检查,T₂加权序列(T₂WI)、液体衰减反转恢复序列(T₂ FLAIR)及弥散加权成像(DWI)在皮质、尾状核、壳核等发现异常高信号,其中1例在DWI像上发现随着疾病进展尾状核、壳核、皮层信号先明显增高,后稍微下降; 6例行脑脊液14-3-3蛋白检测,其中4例为阳性,2例为阴性。结论 临床上对快速进展型痴呆的患者,应考虑克雅病的可能,尽早行脑电图、颅脑MRI以及脑脊液14-3-3蛋白检测有助于临床早期诊断; 脑电图、颅脑MRI在疾病早期可无典型改变,则应短期内复查,动态观察。     

9例散发型克雅病患者的临床表现和脑电图特点分析

目的 探讨散发型克雅氏病(CJD)的临床特点、脑电图(EEG)及MRI表现。方法 回顾性分析9例高度疑似克雅氏病患者的临床资料。结果 本组9例患者中7例亚急性起病,2例慢性起病,主要的临床症状和体征有进行性痴呆、精神行为异常、头晕、共济失调、肌阵挛、锥体外系症状和锥体束征等; EEG检查均异常,其中7例表现为典型的周期性三相波,2例为弥漫性慢波; 所有病例均行头部磁共振成像(MRI)检查显示大脑皮层、尾状核和弥散加权像(DWI)的高信号。所有病例行脑脊液14-3-3蛋白检测,其中6例为阳性,3例为阴性。结论 临床上对快速进展性痴呆患者应进行脑电图、头颅MRI检查,并检测14-3-3蛋白,以利于CJD的早期诊断。EEG与临床症状密切相关,7例患者在中晚期表现出典型的周期性尖慢复合波(PSWCs)和肌阵挛的临床特征。     

Creutzfeld-Jakob病的临床及脑电图特点

目的探讨克雅（氏）病（Creutzfeld-Jakob disease,CJD）的临床表现及脑电图特点。方法回顾分析10例CJD患者的临床表现及脑电图特点。结果CJD患者以进行性痴呆和肌阵挛最常见,首发症状多为抑郁、失眠、头痛、头晕、记忆力减退及行走不稳。典型脑电图呈阵发周期现象,周期波为高幅尖波、慢波、三相波或多相波,脑电图异常程度随患者病情加重而持续性加重。MRI异常表现为基底节区可见等T1/长T1、长T2信号,双侧基底节对称性钙化及脑皮质萎缩,部分脑脊液蛋白质增高。结论结合典型临床表现,动态脑电图可为CJD的早期临床诊断提供依据。     

神经型布鲁氏菌病的临床特点分析

目的 探讨神经型布鲁氏菌病的临床特点,提高诊治水平。方法 对2017年4月至2021年10月河南科技大学第一附属医院收治的17例神经型布鲁氏菌病患者的临床资料进行回顾性分析。结果 17例神经型布鲁氏菌病患者中,男性13例,女性4例,平均年龄（48.8±15.1）岁。16例患者有与牛羊或奶制品接触史。临床表现为脑膜炎9例,脑炎3例,脑膜脑炎1例,椎管内脓肿并脊髓压迫1例,椎管内脓肿并脊髓损害1例,脑血管病1例,周围神经病变1例。布鲁氏菌血清凝集试验阳性16例,其中1例患者血培养标本中发现羊布鲁氏菌,1例患者的脑脊液中通过二代测序技术发现了羊布鲁氏菌。脑脊液白细胞计数升高15例,蛋白升高13例,葡萄糖降低10例,氯化物降低12例。所有患者均应用了多西环素、利福平、头孢曲松、左氧氟沙星、链霉素中的2种或3种联合治疗。多数患者预后良好。结论 神经型布鲁氏菌病患者临床表现多样,脑脊液检查缺乏特异性,对伴有发热的不明原因的神经系统病变,需要考虑到该病。 [国际神经病学神经外科学杂志, 2023, 50(3): 37-40]     

13例散发型Creutzfeldt-Jakob病护理体会

目的：总结13例散发型Creutzfeldt-Jakob病的护理体会,提高对此病的临床认识和护理水平。方法回顾性分析13例sC JD患者的护理特点。结果13例 sC JD 亚急性起病占多数,为69·23％,首发症状为智能减退为最多,占53·86％,sCJD护理特点不同于其他疾病。结论 sCJD患者的护理有一定特点。SCJD患者的护理人员要加强自身防护;避免接触患者血液;对患者使用过的器械和物品需要特殊处理。     

散发型克雅氏病合并新型冠状病毒感染后迅速进展1例报道并文献复习

克雅氏病(Creutzfeldt-Jakob disease, CJD)又称朊蛋白病, 是一种潜伏期长、病程较短、可传播的罕见致命性疾病。自2019年开始全球大流行的2019冠状病毒病(Corona virus disease 2019, COVID-19)是一种由严重急性呼吸综合征冠状病毒2(severe acute respiratory syndrome Coronavirus 2, SARS-CoV-2)感染引起的呼吸系统疾病, 其高传染性及高变异性导致目前仍在继续流行, 或将长期存在。迄今为止, 国外已多次报道在COVID-19患者中观察到了许多不同表现的神经系统并发症, 并提出SARS-CoV-2可能影响神经变性病发生发展的假设。2023年初, 河北省人民医院神经内科收治了1例以头晕、步态不稳为首发症状的患者, 完善相关检查后仍不能明确诊断, 在此期间患者SARS-CoV-2检测呈阳性后, 病情迅速进展, 最终确诊为CJD, 故推测COVID-19可能与CJD的迅速进展存在相关性。笔者现将该例患者的具体诊治过程报道如下, 以期提高临床工作者对CJD及SARS-CoV-2的认...     

遗传性CJD一家系随访分析

目的随访一个遗传性朊蛋白病的家系,对全部家系成员进行朊蛋白基因(PRNP)突变的筛查,探讨患病者的表型和突变发生率。方法研究对象包括28例家系成员和310例健康对照。对研究对象的PRNP基因的开放阅读框架进行PCR扩增,产物直接测序,异常者重复测序,并与对照组对比。收集新发病例的影像和神经电生理资料。结果共发现15例G114V基因突变者,其中3例发病,12例为携带者。1例新发病的患者表现为进行性痴呆、肌阵挛、帕金森综合征,头颅MRI示左侧颞叶轻度萎缩,脑电图有典型的周期性放电。结论本家系为常染色体显性遗传的家族性CJD,新发病例的出现进一步明确了这一表型诊断,部分携带者不发病提示存在不完全外显。     

朊蛋白病百年历史回顾

人们首次认识并报道朊蛋白病可追溯至1922年克雅氏病的提出。一百年来, 从对临床症状的困惑到典型组织病理学改变的描述, 从提出"朊蛋白假说"到发现朊蛋白病相关基因, 人们对朊蛋白病的认识在不断加深, 朊蛋白病也逐渐成为一组少见的传染性致死性退行性脑病的总称, 主要包括克雅氏病及其变异型、Kuru病、Gerstmann-Straussler-Scheinker综合征、家族性致死性失眠等。本文现从克雅氏病的发现入手, 详述朊蛋白病特征性病理改变的发现、传染性的验证、朊蛋白及PRNP基因的发现, 以及朊蛋白病多种亚型的临床表现、病理改变、基因突变类型等, 拟通过回顾朊蛋白病的研究历史, 帮助临床同道更深入地了解该病诊断治疗的进展及困境。     

散发型克雅病头颅磁共振影像异常分析

目的 总结散发型克雅病(sCJD)患者头颅磁共振(MRI)特征,探讨MRI对sCJD诊断的意义。方法 对25例sCJD患者的头颅MRI、临床资料、遗传学资料进行总结,主要分析sCJD患者头颅MRI上异常信号在不同序列上的显示情况、受累部位分布及其他指标。结果 本组25例sCJD患者中,头颅MRI异常者24例,阳性率96%。异常信号在MRI不同序列上的阳性率:DWI高信号者占96%,FLAIR高信号者占56%,ADC低信号者占80%。受累部位、皮层受累者占52%,皮层和基底节同时受累者占48%。皮层肥大征的阳性率为28%。另有1例病人丘脑受累,为国内外罕见。结论 头颅MRI异常在sCJD诊断中具有重要价值,以DWI序列最为敏感,病灶模式以单独皮层和皮层/基底节同时受累为主。中国sCJD病人中皮层肥大征和丘脑受累情况,值得进一步观察研究。     

Creutzfeldt-Jakob病的临床和影像学特点

目的探讨Creutzfeldt-Jakob病(CJD)的临床及影像学特征。方法回顾性分析29例CJD患者的临床资料。结果本组有12例CJD患者以快速进展性痴呆起病;典型的临床表现为进行性痴呆(100%)、共济失调(93.1%)、肌阵挛(89.6%)。EEG均异常,出现典型三相波17例、不典型三相波8例。头颅MRI表现双侧皮质高信号或基底节区T2WI对称性高信号15例,单侧皮质高信号6例,单侧基底节区高信号4例;20例行MR弥散加权成像(DWI)扫描,双侧皮质或基底节区出现高信号14例,一侧皮质或基底节区高信号各3例。14例双侧DWI高信号的患者均出现EEG典型三相波。3例行脑脊液14-3-3蛋白检查,2例阳性。结论 CJD患者多以快速进展性认知功能障碍起病,典型的临床表现为痴呆、共济失调、肌阵挛;EEG、DWI、CSF 14-3-3检测是诊断CJD的重要检查手段;DWI双侧皮质及基底节高信号可能与EEG出现三相波有关。     

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43例患者的临床分析

目的分析43例临床可能或很可能克雅氏病(CJD)患者的临床特征,为CJD早期诊断提供一些参考。方法搜集2013年1月至2016年1月以"可疑CJD"诊断在首都医科大学宣武医院住院的患者,对其临床特点及实验室资料进行分析。结果 CJD通常在60岁左右发病,平均病程5.70±5.08个月;首发症状多变,以迅速进展性痴呆为主。典型临床表现有6种:迅速进展的痴呆、运动系统损害(锥体束、锥体外系及小脑症状)、肌阵挛、无动性缄默、睡眠障碍和视力障碍。结论 CJD的早期诊断应重视其临床特征,当一个患者具有典型特征中的两项或以上表现时,即使14-3-3蛋白、脑电图(EEG)、磁共振(MRI)均不典型,也要高度警惕CJD,定期复查,以免漏诊。     

Clinical characteristics of familial and sporadic Creutzfeldt-Jakob disease in Finland

The clinical features of 44 Finnish patients with Creutzfeldt-Jakob disease (CJD) were analyzed with special emphasis on the differences between the sporadic and familial forms. The 32 sporadic patients comprised all neuropathologically verified cases of CJD in 1974–89 in Finland. The 12 familial patients were members of the same pedigree where CJD has been linked with a mutation at codon 178 of the PRNP gene. The median age at the onset of the disease was 62.5 years and median duration 4.5 months in sporadic patients, and 49 years and 20.5 months in familial CJD, respectively. 90 percent of both sporadic and familial patients had myoclonus. Typical periodic EEG change was seen in 72% of sporadic patients, whereas the familial patients showed only a progressive slowing of EEG.     

散发性Creutzfeldt-Jakob病的临床、病理及影像学研究

目的探讨散发性Creutzfeldt—Jakob病(sCJD)的临床、病理及影像学特点方法同顾性分析12例sCJD患者的临床表现、脑电图(EEG)、影像学特点及病理资料。结果(1)本组男7例,女5例,平均发病年龄49岁;3例以视觉缺失急性起病,9例以智能下降,精神、行为异常或共济失调亚急性起病;12例均有痴呆、肌阵挛和锥体外系体征。(2)9例脑电图(EEG)表现典型的、1例表现不典型的三相波,(3)12例头颅MRI检查,5例出现双侧基底节区T2加权像WI对称性高信号;8例同时行弥散加权(DWI)扫描,均表现为额叶或／和枕叶DWI高信号,并有5例伴双侧基底节区对称性DwI高信号．(4)1例尸检及6例脑活检均具备CJD病理特点。结论sCJD在具备典型临床表现基础上,动态EEG及头颅MRI DWI扫描可为CJD的早期临床诊断提供依据?     

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。     

PRNP 1368 polymorphism is not associated with sporadic Creutzfeldt-Jakob disease in the Korean population

Background:  Human prion protein gene ( PRNP ) is considered a critical and fundamental gene in determining the incidence of human prion diseases. Codons 129 and 219 play an important role in the susceptibility to sporadic Creutzfeldt-Jakob disease (CJD). An association between sporadic CJD and the polymorphism ( PRNP 1368) in an upstream of PRNP exon 1 has been reported in the British and German populations, but study in the Dutch population has failed to confirm an association.
Purpose:  To investigate whether the PRNP 1368 polymorphism is associated with sporadic CJD in the Korean population.
Methods:  We compared the genotype and allele frequencies of PRNP 1368 polymorphism in 171 sporadic CJD patients with those in 212 healthy Koreans.
Result and conclusion:  A significant difference of genotype and allele frequencies at PRNP 1368 was found between the normal Korean population and various European populations. In contrast to the results in the British and German populations, our study does not show a significant difference in genotype ( P =  0.2763) and allele ( P  =   0.3750) frequencies of PRNP 1368 between sporadic CJD and normal controls.     

New-variant Creutzfeldt-Jakob disease

Surveillance of Creutzfeldt-Jakob disease (CJD) was reinstituted in the United Kingdom in 1990 to monitor any effects of the bovine spongiform encephalopathy (BSE) agent on humans. In 1996, the CJD Surveillance Unit described a new variant of CJD, characterised by an unusually early age of onset, a prolonged clinical course with presenting features that were unusual for CJD, and a characteristic neuropathology. All patients were homozygous for methionine at codon 129 in the prion protein gene, with no mutations or insertions. At present, 23 patients have been diagnosed with this new disorder, but it is impossible at present to predict likely numbers of future cases. Strain typing studies in experimental mice have shown that the transmissible agent in new-variant CJD has identical features to that of the BSE agent, but differs from that in sporadic CJD. The identification of disease-associated prion protein in lymphoid tissue in newvariant CJD raises the possibility of lymphoid biopsy for early diagnosis, and indicates that the transmissible agent may be present in association with circulating lymphoid cells in the blood and other tissues. Although the mode of transmission of the BSE agent to humans is unknown, current evidence favours a dietary mode of spread. However, the precise route of spread, infectious dose and incubation period for BSE in humans are all unknown. Additional studies are required to provide further information, which will allow a more accurate understanding of disease pathogenesis and prediction of future disease trends.     

Synaptic pathology and cell death in the cerebellum in Creutzfeldt-Jakob disease

Prion protein (PrP(c)) is a cell membrane glycoprotein particularly abundant in the synapses. Prion diseases are characterized by the replacement of the normal PrPc by a protease-resistant, sheet-containing isoform (PrP(CJD), PrP(Sc), PrP(BSE)) that is pathogenic. Creutzfeldt-Jakob disease (CJD) in humans, scrapie (Sc) in sheep and goats, and bovine spongiform encephalopathy (BSE) in cattle are typical prion diseases. Classical CJD can be presented as sporadic, infectious or familial, whereas the new variant of CJD (nvCJD) is considered a BSE-derived human disease. Spongiform degeneration, glial proliferation, involving astrocytes and microglia, neuron loss and abnormal PrP deposition are the main neuopathological findings in most human and animal prion diseases. Yet recent data point to synapses as principal targets of abnormal PrP deposition. Loss of synapses is an early abnormality in experimental scrapie. Decreased expression of crucial proteins linked to exocytosis and neurotransmission, covering synaptophysin, synaptosomal-associated protein of 25,000 mol wt (SNAP-25), synapsins, syntaxins and Rab3a occurs in the cerebral cortex and cerebellum in sporadic CJD. Moreover, impairment of glomerular synapses and attenuation of parallel fiber pre-synaptic terminals on Purkinje cell dendrites is a cardinal consequence of abnormal PrP metabolism in CJD. Accumulation of synaptic proteins in the soma and axonal torpedoes of Purkinje cells suggests additional impairment of axonal transport. Increase in nuclear DNA vulnerability leading to augmented numbers of cells bearing nuclear DNA fragments is a common feature in the brains of humans affected by prion diseases examined at post-mortem, but also in archival biopsy samples processed with the method of in situ end-labeling of nuclear DNA fragmentation. This form of cell death is reminiscent of apoptosis found in experimental scrapie in rodents. It is not clear that all forms of cell death in human and animal prion diseases are due to apoptosis. Yet new observations have shown cleaved (active) caspase-3 (17 kDa), a main executioner of apoptosis, expressed in scattered cells in the brains of mice with experimental scrapie and in the cerebellum of patients with sporadic CJD. Together, these data suggest activation of the caspase pathway of apoptosis in human and animal prion diseases.     

Creutzfeldt-Jakob病磁共振弥散加权像与临床表现及脑电图一致性的研究

目的探讨散发性Creutzfeldt-Jakob病(CJD)早期、准确诊断的方法,评价磁共振弥散加权像(DWI)在CJD诊断中的地位。方法回顾性比较13例散发性CJD患者DWI异常信号与临床表现及脑电图三相波(PSD)的一致性。结果DWI异常信号与临床表现及脑电图PSD有较高的一致性,并且较临床症状和体征以及PSD表现更早,更敏感;DWI异常信号随病程不断变化,最先表现在大脑皮层区,而后表现在底节区,且底节区异常信号持续时间最长;DWI异常高信号对CJD诊断特异性为81.3%,敏感性为100%,但样本较小。结论临床可疑的CJD患者,头颅DWI检查完全可以作为早期、无创性、准确诊断的重要方法。