scholarly journals Sporadic Creutzfeldt-Jakob Disease: A Retrospective Analysis of 104 Cases

2020 ◽  
Vol 83 (1) ◽  
pp. 65-72
Author(s):  
Chang Qi ◽  
Jia-Tang Zhang ◽  
Wei Zhao ◽  
Xiao-Wei Xing ◽  
Sheng-Yuan Yu
Keyword(s):  
Retrospective Analysis ◽  
Cerebellar Ataxia ◽  
Disease Onset ◽  
Protein Detection ◽  
Initial Symptom ◽  
Progressive Dementia ◽  
Brain Pet ◽  
Jakob Disease ◽  
Pet Scans ◽  
Visual Disturbances

Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is an extremely rare fatal and infectious neurodegenerative brain disorder characterized by rapidly progressive dementia, cerebellar ataxia, and visual disturbances. This article summarizes the retrospective analysis of 104 sCJD patients in the First Medical Center of Chinese PLA General Hospital from 2003 to 2019. Methods: A retrospective analysis of the medical records of the 104 patients diagnosed with sCJD was performed from the aspects of demographic data, clinical manifestations, laboratory examinations, cerebrospinal fluid analysis, electroencephalograms (EEGs), diffusion-weighted imaging (DWI) scans, positron emission tomography (PET) scans, and prion protein gene mutations. Results: In the 104 sCJD patients, pathological evidence of a spongiform change was found in 11 patients, while the remaining 93 patients were probable sCJD. The 104 patients included 57 males and 47 females, with the age of onset ranging from 29 to 82 (mean: 58, median: 60) years. The time from disease onset to death ranged from 1 to 36 months. Most of the patients died 7–12 months after the onset of sCJD. In most patients, rapidly progressive dementia appeared as the initial symptom, followed by cerebellar ataxia, visual disturbances, and neurobehavioral disorders. Most patients’ DWI images showed symmetric or asymmetric hyperintensity in the cortex. In terms of EEGs, 38.2% of the patients had periodic sharp wave complexes. The sensitivity of 14-3-3 protein detection was 34.1%. The brain PET scans of 50 patients with sCJD presented 96% sensitivity for the diagnosis of sCJD. Conclusions: This study indicated that sCJD occurred at an early age in patients in China. The sensitivity of 14-3-3 protein detection was significantly low, but brain PET was highly sensitive in the diagnosis of sCJD.

scholarly journals A Case of Familial Creutzfeldt-Jakob Disease Presenting with Dry Cough

2006 ◽  
Vol 33 (2) ◽  
pp. 243-245 ◽  
Author(s):  
Sandrine Larue ◽  
Steve Verreault ◽  
Peter Gould ◽  
Michael B. Coulthart ◽  
Catherine Bergeron ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Mutation Screening ◽  
Disease Onset ◽  
Visual Hallucinations ◽  
Progressive Dementia ◽  
Gene Encoding ◽  
Progressive Ataxia ◽  
Persistent Cough ◽  
Jakob Disease ◽  
Classical Triad

ABSTRACT:Background:Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is based on the classical triad of rapidly progressive dementia, myoclonus and abnormal EEG. The 200k mutation within the gene encoding PrP, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide.Case Report:Herein, we report a patient who developed persistent dry cough and classical signs of CJD, including severe cognitive decline, cerebellar signs, and myoclonic jerks, leading to death a few weeks after disease onset. Mutation screening showed that he had the 200k point mutation in the PRNP gene. His mother had died twenty years earlier with neuropathologically confirmed CJD. She had presented a rapidly progressive ataxia with myoclonus, dementia, visual hallucinations, and the same persistent dry cough.Conclusions:The clinical presentation of this familial CJD case with persistent dry cough is quite unusual. Therefore, a neurological etiology should be sought when confronted with an unexplained persistent cough.

scholarly journals Is there a link between COVID-19 and Creutzfeldt-Jakob Disease? a Case Report

2021 ◽  
Vol 9 (1) ◽  
pp. 26-26
Author(s):  
Ehsan Nasiri ◽  
Amirreza Naseri ◽  
Mohammad Yazdchi ◽  
Mahnaz Talebi
Keyword(s):  
Protein Detection ◽  
Behavioral Changes ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Progressive Dementia ◽  
Abnormal Signal ◽  
Jakob Disease ◽  
The Central Nervous System ◽  
Abnormal Signal Intensity ◽  
Magnetic Resonance Imaging Mri

Creutzfeldt-Jakob Disease (CJD) is a rare rapidly progressive neurodegenerative disease. The diagnosis of CJD is based on magnetic resonance imaging (MRI) findings, electro-encephalography (EEG), or 14-3-3 protein detection. We report a case of a previously-healthy 72 years old woman, with evidence of coronavirus disease 2019 (COVID-19), who complained of behavioral changes and rapidly progressive dementia. While hospitalization, she didn't have orientation to time and place and repeated an irrelevant sentence in response to questions. Also, anomia and impaired comprehension was observed. Myoclonic jerks, abnormal signal intensity at bilateral parieto-occipital cortices in MRI, periodic sharp wave complexes in EEG, and increased lactate dehydrogenase in cerebrospinal fluid (CSF), highly recommended CJD for her. This is the second case of CJD after COVID-19 during this pandemic, which can be an alarm to clinicians about the silent impact of COVID-19 on the central nervous system.

scholarly journals Case Report: Creutzfeld- Jakob disease, onset with ataxia and absence of dementia

2021 ◽  
Author(s):  
Lucas de Oliveira Pinto Bertoldi ◽  
Beatriz Cassarotti ◽  
Isabela Silva Souza ◽  
Alana Strucker Barbosa ◽  
Eduardo Silveira Marques Branco ◽  
...  
Keyword(s):  
Case Report ◽  
Cognitive Deficit ◽  
Disease Onset ◽  
Abdominal Distension ◽  
Initial Assessment ◽  
Progressive Dementia ◽  
Mri Scan ◽  
History Of ◽  
Jakob Disease ◽  
Low Incidence

Context: Creutzfeld Jakob disease, a rare prion disease that leads to rapidly progressive dementia and movement disorders, through its pathophysiology will determine brain damage. Regardless of the cause, the course of the disease will be rapid and will invariably lead to death. Objective: The reason why the case is described is due to the low incidence of this disease and its unusual course in the case described. Case report: A 67-year-old male, had a personal history of smoking and obesity . Referred to our service due to sudden ataxia, in the presence of an unchanged MRI scan. The first sympton started when he woke up with a dizzying and inability to walk due to imbalance. In the initial assessment, the patient had appendicular ataxia in all 4 limbs, with an examination of his mental status without changes. New head MRI exam showing alterations compatible with CJD. Interned with hipotheses diagnoses of Wilson’s disease, encephalitis or CJD, he developed abdominal distension with surgical need and immediately after the procedure he already presented a comatose, spastic, and myoclonic condition compatible with the final phase of CJD, later protein 14-3-3 was found in the CSF. Conclusions: CJD, usually presents with rapidly progressive cognitive deficit associated with movement disorder. In the case presented, initially there was no change in cognition and after an urgent surgical procedure, there was an important advance in a shorter than expected period for the disease.

scholarly journals An unusual presentation of sporadic Creutzfeldt-Jakob disease

2020 ◽  
Vol 49 (3) ◽  
pp. 490-492
Author(s):  
Hannah Podger ◽  
Anil Ipe
Keyword(s):  
Language Impairment ◽  
Neurodegenerative Disorder ◽  
Case Reports ◽  
Clinical Signs ◽  
Unusual Presentation ◽  
Progressive Dementia ◽  
Extrapyramidal Signs ◽  
Jakob Disease ◽  
Sporadic Cjd ◽  
Visual Disturbances

Abstract Sporadic Creutzfeld-Jakob disease (CJD) is a rare neurodegenerative disorder. It is uniformly fatal. Clinical signs include myoclonus, visual disturbances, cerebellar ataxia, akinetic mutism and pyramidal/extrapyramidal signs in addition to a rapidly progressive dementia. Premortem diagnosis is challenging due to the rarity of the condition and the subsequent low index of suspicion held for it. On literature review, isolated language impairment as the first neurological symptom occurs in only about 1% of patients with sporadic CJD (El Tawil et al. (2017, Acta Neurol Scand, 135: 316–23)). We present this patient’s case, marked for the unusual presentation and the rapidity of decline, to emphasise the need for awareness of CJD as an important differential diagnosis on stroke units. In our case, magnetic resonance imaging findings drove the suspicion of sporadic CJD as the diagnosis. This seems to correlate with other case reports recognising CJD presenting with progressive aphasic disorders (Terrin et al. (2017, Neurol Sci, 38: 1535–7); Mandell et al. (1989, Neurology, 39: 55–8); Martory et al. (2012, Eur Neurol, 67: 360–2)).

scholarly journals Diagnostic challenge of rapidly progressing sporadic Creutzfeldt-Jakob disease

2019 ◽  
Vol 12 (9) ◽  
pp. e230535 ◽  
Author(s):  
Gi Tae Kwon ◽  
Min Sung Kwon
Keyword(s):  
Disease Onset ◽  
Memory Loss ◽  
Cerebral Atrophy ◽  
Sudden Onset ◽  
Postmortem Brain ◽  
Diagnostic Tools ◽  
Diagnostic Challenge ◽  
Progressive Dementia ◽  
Diagnostic Dilemma ◽  
Jakob Disease

Antemortem assessment of sporadic Creutzfeldt-Jakob disease (sCJD) can be significantly hampered due to its rarity, low index of clinical suspicion and its non-specific clinical features. We present an atypical case of definitive sCJD. The patient died within 5 weeks of the disease onset. This unusually short duration of disease presented a significant diagnostic dilemma. The patient presented with 2-week history of sudden-onset cognitive decline, memory loss, aphasia and ataxia. MRI Diffusion-weighted sequences revealed cortical ribboning sign without cerebral atrophy. Protein 14-3-3 from cerebrospinal fluid (CSF) was detected, and postmortem brain autopsy confirmed the diagnosis of sCJD. This case underscores the importance of considering CJD as a potential diagnosis for rapidly progressive dementia. Serology tests, EEG, MRI and CSF study are invaluable diagnostic tools when assessing for sCJD. Appropriate use of those diagnostic tests, along with a detailed clinical examination, can successfully and promptly exclude other differential diagnoses and confirm sCJD.

Deep Learning Representation from Electroencephalography of Early-Stage Creutzfeldt-Jakob Disease and Features for Differentiation from Rapidly Progressive Dementia

2016 ◽  
Vol 27 (02) ◽  
pp. 1650039 ◽  
Author(s):  
Francesco Carlo Morabito ◽  
Maurizio Campolo ◽  
Nadia Mammone ◽  
Mario Versaci ◽  
Silvana Franceschetti ◽  
...  
Keyword(s):  
Deep Learning ◽  
Supervised Learning ◽  
Early Stage ◽  
Processing System ◽  
Fine Tuning ◽  
Permutation Entropy ◽  
Support Vector ◽  
Progressive Dementia ◽  
Time Frequency ◽  
Jakob Disease

A novel technique of quantitative EEG for differentiating patients with early-stage Creutzfeldt–Jakob disease (CJD) from other forms of rapidly progressive dementia (RPD) is proposed. The discrimination is based on the extraction of suitable features from the time-frequency representation of the EEG signals through continuous wavelet transform (CWT). An average measure of complexity of the EEG signal obtained by permutation entropy (PE) is also included. The dimensionality of the feature space is reduced through a multilayer processing system based on the recently emerged deep learning (DL) concept. The DL processor includes a stacked auto-encoder, trained by unsupervised learning techniques, and a classifier whose parameters are determined in a supervised way by associating the known category labels to the reduced vector of high-level features generated by the previous processing blocks. The supervised learning step is carried out by using either support vector machines (SVM) or multilayer neural networks (MLP-NN). A subset of EEG from patients suffering from Alzheimer’s Disease (AD) and healthy controls (HC) is considered for differentiating CJD patients. When fine-tuning the parameters of the global processing system by a supervised learning procedure, the proposed system is able to achieve an average accuracy of 89%, an average sensitivity of 92%, and an average specificity of 89% in differentiating CJD from RPD. Similar results are obtained for CJD versus AD and CJD versus HC.

Cerebrospinal Fluid Levels of 14-3-3 Gamma: What Does It Tell Us About Sporadic Creutzfeldt-Jakob Disease?

Pharmacology ◽  
2017 ◽  
Vol 100 (5-6) ◽  
pp. 243-245 ◽  
Author(s):  
Christian Humpel ◽  
Thomas Benke
Keyword(s):  
Cerebrospinal Fluid ◽  
High Risk ◽  
Retrospective Analysis ◽  
Short Report ◽  
Healthy Controls ◽  
Jakob Disease ◽  
Csf Levels ◽  
Fluid Levels ◽  
Very High ◽  
Probable Diagnosis

Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) can be supported by the analysis of Tau and 14-3-3 in the cerebrospinal fluid (CSF). In this short report, we report about a retrospective analysis performed on 2,296 routinely collected CSF samples, and 44 samples with a ratio of phosphoTau181/Tau <0.075 were selected. Analysis was performed with a novel 14-3-3 gamma CircuLex Elisa. We show that control levels were around 6,000 AU/mL and samples from Alzheimer patients were not different from those collected from healthy controls. Four cases of verified CJD had 14-3-3 CSF levels of >100,000 AU/mL, while 10 out of 12 suspected CJD samples with 14-3-3 CSF levels between 50,000-100,000 AU/mL were CJD positive. All samples with 14-3-3 levels between 15,000 and 50,000 AU/mL were not CJD cases but disorders with complex neuropathology. In conclusion, our data suggests that in CSF samples with a phospho-Tau-181/Tau ratio <0.075 CSF levels of 14-3-3 should be analyzed. Our data suggests a very high risk for CJD with 14-3-3 levels above 100,000 AU/mL and a probable diagnosis of CJD based on laboratory parameters above 50,000 AU/mL.

Rapidly Progressive Dementia and Coma

2019 ◽  
pp. 704-712
Author(s):  
Prasuna Kamireddi ◽  
Jason L. Siegel ◽  
Dennis W. Dickson
Keyword(s):  
Intensive Care Unit ◽  
Functional Ability ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Cognitive Domain ◽  
Progressive Dementia ◽  
Common Causes ◽  
Jakob Disease ◽  
Clinical Signs And Symptoms ◽  
Definition Of

In most patients with dementia, the clinical signs and symptoms progress gradually over many years. However, neurointensivists may encounter patients who have rapidly progressive dementia (RPD). Often these patients need to be admitted to the intensive care unit for management of status epilepticus, agitation, or ventilation in coma. Although the prototype of RPD is Creutzfeldt-Jakob disease, this chapter reviews other common causes of RPD. An established definition of RPD does not exist, but in this chapter RPD refers to the loss of more than 1 cognitive domain and functional ability, usually occurring over a few months.

scholarly journals Creutzfeldt-Jakob disease: a survey of 14 patients

1996 ◽  
Vol 54 (4) ◽  
pp. 577-583 ◽  
Author(s):  
Paulo E. Marchiori ◽  
Noboru Yasuda ◽  
Helga C. A. Azevedo ◽  
Mônica Órfão ◽  
Dagoberto Callegaro ◽  
...  
Keyword(s):  
Nervous System ◽  
Gamma Globulin ◽  
Clinical Findings ◽  
Status Spongiosus ◽  
Eeg Activity ◽  
School Of Medicine ◽  
Jakob Disease ◽  
The Central Nervous System ◽  
Behaviour Changes ◽  
Visual Disturbances

Creutzfeldt-Jakob disease (CJD) is a transmissible disease of the nervous system causatively related to the presence of an abnormal prion protein, with dementia, myoclonic jerks, and periodic EEG activity. Fourteen patients (7 females and 7 males) ranging from 26 to 76 years of age (median 59 years) were evaluated between 1974 and 1995 at the Neurologic Clinic of São Paulo University School of Medicine. The average duration of the disease was 12 months (3.5 - 34 months). Early clinical findings were: behaviour changes in 7 patients, dementia in 4, visual disturbances in 4, vertigo in 2, tremor in 9, and dystonia in one. Advanced symptoms were dementia and myoclonus in all patients. Pyramidal tract dysfunction was found in 6, cerebellar ataxia in 2, seizures in 3, nystagmus and vertigo in 4, and peripheral nervous system involvement in 2. Atypical clinical forms were found in 5 patients. Periodic EEG activity was found in 10 patients. Cerebrospinal fluid evaluation showed pleocytosis in 1 patient, higher protein content in 2, and higher gamma globulin level in 2. In 10 patients anatomopathological evidence in the central nervous system confirmed the clinical diagnosis by presenting with status spongiosus. All except one patient presented with the sporadic form of the disease.

scholarly journals Doença de Creutzfeldt-Jakob: Apresentação Atípica de uma Doença Muito Rara

2020 ◽  
Vol 33 (13) ◽  
Author(s):  
Renato Oliveira ◽  
Marta Dias ◽  
Inês Brás Marques
Keyword(s):  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Diffusion Weighted Imaging ◽  
Negative Symptoms ◽  
Sudden Onset ◽  
Lower Limbs ◽  
Progressive Dementia ◽  
Radiological Features ◽  
Diffusion Weighted ◽  
Jakob Disease

Creutzfeldt-Jakob disease typically presents as rapidly progressive dementia. We describe the case of a 59-year-old male patient presenting with sudden onset of central facial palsy and dysarthria, followed by myoclonus of his left upper and lower limbs. Initial brain magnetic resonance showed hyperintensity of the right caudate and putamen on diffusion-weighted imaging and T2 sequences. Cerebrospinal fluid analysis showed increased protein count. The workup to investigate autoimmune, infectious and paraneoplastic causes was negative. Symptoms progressively worsened, with left hemiplegia, dysphagia, urinary incontinence, and, later, akinetic mutism. The follow-up brain magnetic resonance scan revealed hyperintensity of bilateral basal ganglia as well as cerebral cortical abnormalities on diffusion-weighted imaging. Electroencephalography showed periodic activity and tau protein levels in the cerebrospinal fluid were elevated. Genetic analysis showed mutation c-598G > A. The patient died four months later. We report a case of familial Creutzfeldt-Jakob disease with atypical clinical and radiological features, namely neurological focal signs with sudden onset, absence of significant cognitive impairment and unilateral radiological findings. With disease progression, characteristic clinical and radiological features led to the diagnosis.

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