Clinical manifestations and polysomnography-based analysis in nine cases of probable sporadic Creutzfeldt-Jakob disease

Neurological Sciences - To summarize the clinical characteristics of patients with sporadic Creutzfeldt-Jakob disease (sCJD), analyze its sleep disorder characteristics using polysomnography (PSG),...     

散发型克-雅病的临床特点分析

目的探讨散发型克-雅病(sporadic Creutzfeldt-Jakob disease,s CJD)的临床特点,以期更好地指导临床医师早期发现该病。方法纳入s CJD患者17例,分析其临床特点、早期症状、辅助检查结果以及生存期等。结果男女比例为1:1.83,平均发病年龄为(60±8.8)岁,首发症状以行走不稳(82.4%)、记忆力减退(64.7%)为主,其中,肌阵挛、磁共振"绸带征"、基底节异常信号、脑电图三相波、脑脊液14-3-3蛋白的阳性率分别为82.4%、76.5%、58.8%、82.4%、70%。随访过程中,12例患者已死亡,平均生存期为(12±7.7)个月。结论本研究中,s CJD患者多数中老年发病,首发症状无特异性,磁共振"绸带征"及脑电图三相波阳性出现的几率较高。     

Diffusion-weighted MRI in sporadic Creutzfeldt-Jakob disease

Conventional MRI with T1, T2 and FLAIR sequences has an important role for the diagnosis of Creutzfeldt-Jakob disease, but the usual examination does not exclude the disease. The objective of this study is to report on the role of diffusion-weighted imaging (DWI) in the diagnostic strategy. From 2002 to 2006, four patients with a suspected diagnosis of sporadic Creutzfeldt-Jakob disease, which was retrospectively confirmed, underwent DWI. In all patients, MRI demonstrated high-signal intensities on FLAIR sequences and on spin-echo T2-weighted MRI, with restricted diffusion of caudate and lenticular nuclei. In one patient, DWI revealed cortical high-signal intensities that were not visualized on either FLAIR or T2-weighted MRI. In two other patients, MRI showed restricted thalamic diffusion, which is a classic sign of the new variant of the disease. Thus, thalamic involvement can be found in the sporadic form of the disease. It can be revealed on DWI and by apparent diffusion coefficient (ADC) mapping or detected only by ADC measurement.     

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。     

A novel phenotype of sporadic Creutzfeldt-Jakob disease

An atypical case of sporadic Creutzfeldt-Jakob disease (CJD) is described in a 78-year-old woman homozygous for methionine at codon 129 of the prion protein (PrP) gene. The neuropathological signature was the presence of PrP immunoreactive plaque-like deposits in the cerebral cortex, striatum and thalamus. Western blot analysis showed a profile of the pathological form of PrP (PrP(Sc)) previously unrecognised in sporadic CJD, marked by the absence of diglycosylated protease resistant species. These features define a novel neuropathological and molecular CJD phenotype.     

NMDA receptor autoantibodies in sporadic Creutzfeldt-Jakob disease

Journal of Neurology -     

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。     

Alien hand and leg as the presenting feature of probable sporadic Creutzfeldt-Jakob disease: A rare presentation of a rare disease

Sporadic Creutzfeldt-Jakob disease (sCJD) can have varied clinical presentation depending upon the genotype at codon 129. The common presenting clinical features of sCJD are rapid onset cognitive impairment, ataxia, psychosis and visual signs (field defects, distortion, cortical blindness). Alien limb sign was first described in patients with corpus callosal tumors and later with other neurodegenerative conditions like corticobasal degeneration. Alien hand complaints as the presenting feature of sCJD has been described in literature, but simultaneous alien hand and leg has been rarely described as presenting feature of sCJD. We describe here a case of a 55-year-old man who presented with progressive left alien hand and leg as the sole clinical manifestation of probable sCJD.     

克-雅氏病5例临床分析

目的提高对克-雅氏病(Creutzfeldt-Jakob disease,CJD)的认识及重视。方法回顾性分析5例散发性CJD的临床资料。结果本组亚急性起病2例,慢性起病3例。主要的临床症状和体征有进行性痴呆、精神行为异常、共济失调、肌阵挛、头晕、锥体外系征、锥体束征、言语笨拙、癫痫等。头部MRI弥散加权像3例表现为基底节区病变,4例表现为皮质异常信号。脑电图均有异常,2例存在背景脑电α节律解体,4例发作间期出现较多尖慢波,1例发作间期出现欠规则三相波。4例脑脊液14-3-3蛋白为阳性。结论 CJD多为亚急性或慢性起病,病程进展迅速,以快速进行性痴呆为特征临床表现,头部MRI、脑电图、脑脊液14-3-3蛋白为主要辅助检查。