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病临床诊断1例分析

Creutzfeldt-Jakob disease(CJD)是一种由朊蛋白感染引起的罕见的神经变性疾病,称人海绵状脑病,老年人好发,多于65岁左右起病,发病率为0．25～2／百万人口／年。临床上表现为快速发展的进行性痴呆,共济失调,肌阵挛,可伴有锥体系及锥体外系症状,脑电图描记为周期发放的尖波,三相波,MRI上可表现为双侧尾状核T2加权高信号,弥散成像高信号,病理表现为弥散性非炎症性的神经元变性或丧失,星形胶质细胞增生,神经元和星形胶质细胞的胞浆内有空泡形成。     

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。     

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。     

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。     

Creutzfeldt-Jakob病24例的临床与病理分析

目的　研究国人老年Creutzfeldt Jakob病 (CJD)的若干特殊性。方法　对 2 4例经病理证实的CJD患者 ,其中老年组 6例 ,非老年组 1 8例。 1 0例进行免疫组化染色 ,1 0例进行PrP基因分析 ,7例进行实验鼠传递和 5例 1 4 3 3蛋白检测的CJD患者 ,分老年组 (≥ 60岁 )与非老年组 (<60岁 )进行对照研究。结果　老年组呈急性 (2 / 6)或亚急性发病 (4/ 6)者多 ,平均病程仅 7.1个月 ,首发症状多以沉默寡言开始 ,脑电图较早呈现特有改变 :周期性同步放电频度 (5/ 6)也较非老年组 (5/ 1 8)多。而海绵状变性、神经细胞脱失和星形胶质细胞增生 (两组分别是 6/ 6和 1 8/ 1 8) ,PrP沉积 (3/ 3、7/7) ,1 4 3 3蛋白检出 (2 / 2、3/ 3) ,实验动物传递 (2 / 2、3/ 3)等两组无差别 ,密码子 1 2 9甲硫氨酸纯合型老年组与非老年组分别是 3/ 3和 6/ 7,而杂合型 1例为非老年组。结论　认识国人老年CJD若干特殊性 ,对于早期诊断 ,减少漏诊 ,防止医源性传播有积极意义。     

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     

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。     

Creutzfeldt-Jakob病9例临床、影像学特点及随访

目的 探讨散发性 Creutzfeldt-Jakob 病（克雅病，sCJD）的临床表现和影像学特点，随访 生存期，以期更好地指导临床诊断。方法 对北京大学第三医院神经内科2002年1月至2020年12 月收 治的 9 例 sCJD 患者进行回顾性分析。结果 患者发病年龄为（62±10）岁；最常见的症状包括无动性 缄默 7 例（7/9），肌阵挛发作 6 例（6/9），反应迟钝 5 例（5/9），共济失调 4 例（4/9），精神行为异常、言语混乱 3 例（3/9），行走不稳 3 例（3/9）。首发症状以反应迟钝，精神行为异常为主。磁共振弥散加权成像皮层高 信号 6 例（6/9），脑脊液 14-3-3 蛋白 4 例（4/9），基底节异常高信号 3 例（3/9），脑电图三相波 1 例（1/9）。中位 生存期 4 个月，24 个月随访生存 2 例（2/9）。结论 本研究中，sCJD 中老年发病，首发症状无特异性，弥 散加权成像皮层、基底节高信号检出率高，中位生存期较短。     

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。     

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     

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。     

Periodic electroencephalogram complexes in a patient with variant Creutzfeldt-Jakob disease

OBJECTIVE: Based on the current criteria, the diagnosis of "possible" or "probable" variant Creutzfeldt-Jakob disease (vCJD) implies the absence of periodic sharp wave complexes (PSWCs) in the electroencephalogram (EEG). To verify this point, we investigated the development of the EEG changes along the course of the disease in a pateint with vCJD. METHODS: Long-lasting EEG-polygraphic recordings were performed once a month during the last year of illness. RESULTS: We found the occurrence of a typical EEG periodic pattern in the late clinical stage of the vCJD patient. INTERPRETATION: In the light of our finding, the diagnostic criteria for vCJD should be amended to include the possibility of a typical periodic EEG in advanced stages of disease in cases with long survival.     

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 features of Creutzfeldt-Jakob disease with V180I mutation

The authors describe the clinical features of Creutzfeldt-Jakob disease (CJD) with the causative point mutation at codon 180. The symptoms never started with visual or cerebellar involvement. The patients showed slower progression of the disease compared with sporadic CJD. They never showed periodic sharp and wave complexes in EEG. MRI demonstrated remarkable high-intensity areas with swelling in the cerebral cortex except for the medial occipital and cerebellar cortices. These characteristic MRI findings are an important clue for an accurate premortem diagnosis.     

Sporadic Creutzfeldt-Jakob disease mimicking variant Creutzfeldt-Jakob disease

BACKGROUND: The determination of the form of prion disease and early diagnosis are important for prognostic, public health, and epidemiologic reasons. OBJECTIVE: To describe a patient with sporadic Creutzfeldt-Jakob disease (sCJD) who had a clinical history and initial electroencephalogram and magnetic resonance imaging findings consistent with variant CJD (vCJD). RESULTS: Results of a repeated electroencephalogram were suggestive of sCJD, and a subsequent brain biopsy confirmed this diagnosis. CONCLUSIONS: This case cautions against relying solely on T2- and diffusion-weighted pulvinar hyperintensity and clinical features to differentiate between vCJD and sCJD, and further supports established diagnostic criteria for vCJD.     

Role of magnetic resonance imaging, cerebrospinal fluid, and electroencephalogram in diagnosis of sporadic Creutzfeldt-Jakob disease

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive dementia (RPD) that can be difficult to identify antemortem, with definitive diagnosis requiring tissue confirmation. We describe the clinical, magnetic resonance imaging (MRI), cerebrospinal fluid (CSF), and electroencephalogram (EEG) measures of a small cohort of 30 patients evaluated for RPD. Clinical and diagnostic measures were cross-sectionally obtained from 17 sCJD patients (15 definite, two probable), 13 non-prion rapidly progressive dementia patients (npRPD), and 18 unimpaired controls. In a subset of patients (nine sCJD and nine npRPD) diffusion tensor imaging (DTI) measures [fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD)] were also obtained for the caudate, corpus callosum, posterior limb of the internal capsule, pulvinar, precuneus, and frontal lobe. Differences among groups were assessed by an analysis of variance. Compared to npRPD individuals, sCJD patients had cerebellar dysfunction, significantly higher CSF tau, “positive” CSF 14-3-3, and hyperintensities on diffusion-weighted imaging (DWI) that met previously established imaging criteria for sCJD. EEG changes were similar for the two groups. In addition, sCJD patients had significant decreases in DTI measures (MD, AD, RD but not FA) within the caudate and pulvinar compared to either npRPD patients or unimpaired controls. Our results confirm that CSF abnormalities and MRI (especially DWI) can assist in distinguishing sCJD patients from npRPD patients. Future longitudinal studies using multiple measures (including CSF and MRI) are needed for evaluating pathological changes seen in sCJD patients.     

Creutzfeldt-Jakob disease

There has been significant advance in our understanding of CJD and similar spongiform encephalopathies in recent years. The range in clinical expression of the disease is better appreciated, and the existence of "atypical" cases of CJD is increasingly recognized. New ideas about the possible modes of natural transmission have been derived from case-control studies in different parts of the world.     

Creutzfeldt-Jakob disease

Summary The neuropathological findings in 3 cases of Creutzfeldt-Jakob disease are described.The triad of morphological changes, i.e. neuronal loss, status spongiosus of the grey matter and proliferation and hypertrophy of fibrous astrocytes with or without microglial reaction, conforms to the typical pattern of pathology described in the literature. Degeneration of the cerebellum places these cases in the cortico-striato-cerebellar variant of the disease.The distribution of the lesions within cerebrum and cerebellum, with a more severe involvement of phylogenetically older portions, is unusual. In the cerebrum cortices belonging to the limbic system and the striatum were the most severely affected, whilst in the cerebellum the vermis and flocculo-nodular lobe bore the brunt of the pathological process. A similar distribution of the lesions is generally found in kuru.Further similarities with kuru are pointed out i.e. the occurrence of swollen, chromatolytic neurones predominantly within the infragranular layers of the cerebral cortex, of coarse intracytoplasmic vacuolation in many of the large striatal nerve cells and of kuru plaques within the cerebellum. Similarities and differences between the two diseases are discussed.

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Zusammenfassung Die neuropathologischen Befunde von 3 Fällen von Creutzfeldt-Jakobscher Krankheit werden beschrieben.Die Trias der morphologischen Veränderungen — Nervenzelluntergang, Status spongiosus in der grauen Substanz, Proliferation und Hypertrophie faserbildender Astrocyten mit und ohne Mikrogliareaktion — entspricht dem typischen Muster der pathologischen Veränderungen in anderen Fällen der Literatur. Ihre Kleinhirnbeteiligung reiht die Fälle in die cortico-striato-cerebelläre Variante der Krankheit ein.Ungewöhnlich ist die Verteilung der Veränderungen im Großhirn und Kleinhirn mit der Bevorzugung phylogenetisch älterer Anteile. Am Großhirn waren die Rindenabschnitte des limbischen Systems und das Striatum am stärksten befallen; am Kleinhirn hat der pathologische Prozeß hauptsächlich den Vermis und Lobus flocculo-nodularis angegriffen. Eine ähnliche Anordnung der Veränderungen findet sich bei der Kuru-Krankheit.Weitere Ähnlichkeiten mit Kuru werden hervorgehoben, wie das Vorkommen von geschwollenen chromatolytischen Nervenzellen, besonders in den infragranulären Großhirnrindenschichten, von groben intracytoplasmatischen Vacuolen in vielen großen Striatumneuronen und von Kuru-Plaques im Kleinhirn. Ähnlichkeiten und Unterschiede der beiden Krankheitsbilder werden diskutiert.