scholarly journals A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Ján Necpál ◽  
Martin Stelzer ◽  
Silvia Koščová ◽  
Michal Patarák
Keyword(s):  
Corticobasal Degeneration ◽  
Early Death ◽  
Prnp Gene ◽  
Corticobasal Syndrome ◽  
Progressive Dementia ◽  
Rare Presentation ◽  
Alien Hand ◽  
Jakob Disease ◽  
Neurological Features ◽  
Characteristic Features

Creutzfeldt-Jakob disease (CJD) is an untreatable rare human prion disease characterized by rapidly progressive dementia along with various neurological features, including myoclonus and sometimes other movement disorders. The clinical course is typically insidious and rapid, leading to an early death. In general, the most common form is sporadic CJD; however, Slovakia is typical for a high percentage of genetic cases. We present an unusual case report of a 65-year-old man with a sudden, stroke-like onset of motor aphasia with right-sided levodopa unresponsive parkinsonism, alien hand, and other characteristic features of corticobasal syndrome (CBS), with rapid deterioration and death on the 32nd day of the disease. Various neurodegenerative disorders are manifested with CBS as a clinical phenotype, including corticobasal degeneration (CBD), progressive supranuclear palsy, Alzheimer’s disease, and CJD. In our patient, mutation E200K and M129M polymorphism of the PRNP gene and typical immunohistochemical findings pointed to a diagnosis of CJD. The patient’s mother died of CJD many years ago. Several CBS-CJD cases were described, but the atypical stroke-like onset of CBS-CJD, an extremely rare presentation of CJD, makes our case unique worldwide.

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

2014 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
Kunal Nath ◽  
Dinesh Khandelwal ◽  
Deepak Jain ◽  
Mihir Acharya ◽  
BanshiLal Kumawat ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Presentation ◽  
Alien Hand ◽  
Jakob Disease

scholarly journals Case Report: Concomitant Alzheimer's and Lewy-Related Pathology Extending the Spectrum of Underlying Pathologies of Corticobasal Syndrome

2021 ◽  
Vol 15 ◽  
Author(s):  
Michaela Kaiserová ◽  
Katerina Menšíková ◽  
Lucie Tučková ◽  
Petr Hluštík ◽  
Petr Kaňovský
Keyword(s):  
Histopathological Examination ◽  
Accurate Determination ◽  
Corticobasal Degeneration ◽  
Intermediate Stage ◽  
Corticobasal Syndrome ◽  
Lewy Body Pathology ◽  
Jakob Disease ◽  
Cortical Involvement

Corticobasal syndrome (CBS) is clinically characterized by progressive asymmetric rigidity and apraxia together with symptoms suggestive of cortical involvement and basal ganglia dysfunction. The spectrum of neurodegenerative diseases that can manifest with CBS is wide. The associations of CBS with corticobasal degeneration, progressive supranuclear palsy, Alzheimer's disease, frontotemporal lobar degenerations, Creutzfeldt–Jakob disease, or diffuse Lewy body pathology have been reported. We describe the case of a 71-year-old woman with CBS. The histopathological examination of brain tissue revealed concomitant pathology corresponding to the limbic stage of Lewy-related pathology and the intermediate stage of Alzheimer's-type pathology. To date, there have been only a few cases with a similar combination of pathology manifesting with the CBS phenotype that have been described in the literature. The extent and distribution of pathological changes in these cases were somewhat different from ours, and significance for clinical manifestation was attributed to only one of these pathologies. In our case, we assume that both types of pathology contributed to the development of the disease, considering the presumed specific spread of both types of pathological processes according to Braak's staging. Our case expands the spectrum of neurodegenerative pathological processes that may manifest with the typical CBS phenotype. Also, it points out the importance of identifying specific biomarkers that would enable more accurate in vivo differential diagnosis and more accurate determination of the underlying pathological processes of these diseases.

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.

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.

Creutzfeldt-Jakob disease mimicking corticobasal degeneration

2005 ◽  
Vol 252 (10) ◽  
pp. 1283-1284 ◽  
Author(s):  
O. Moreaud ◽  
A. Monavon ◽  
M. P. Brutti–Mairesse ◽  
S. Grand ◽  
J. F. Lebas
Keyword(s):  
Corticobasal Degeneration ◽  
Jakob Disease

scholarly journals The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (PRNP) with Sporadic Creutzfeldt–Jakob Disease

Cells ◽  
2021 ◽  
Vol 10 (11) ◽  
pp. 3132
Author(s):  
Yong-Chan Kim ◽  
Byung-Hoon Jeong
Keyword(s):  
Prion Protein ◽  
Protein Gene ◽  
Meta Analysis ◽  
Prnp Gene ◽  
Case Control ◽  
Prion Protein Gene ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Jakob Disease ◽  
Sporadic Cjd

Prion diseases are fatal, chronic, and incurable neurodegenerative diseases caused by pathogenic forms of prion protein (PrPSc) derived from endogenous forms of prion protein (PrPC). Several case–control and genome-wide association studies have reported that the M129V polymorphism of the human prion protein gene (PRNP) is significantly associated with susceptibility to sporadic Creutzfeldt–Jakob disease (CJD). However, since some case–control studies have not shown these associations, the results remain controversial. We collected data that contain the genotype and allele frequencies of the M129V single-nucleotide polymorphism (SNP) of the PRNP gene and information on ethnic backgrounds from sporadic CJD patients. We performed a meta-analysis by collecting data from eligible studies to evaluate the association between the M129V SNP of the PRNP gene and susceptibility to sporadic CJD. We found a very strong association between the M129V SNP of the PRNP gene and susceptibility to sporadic CJD using a meta-analysis for the first time. We validated the eligibility of existing reports and found severe heterogeneity in some previous studies. We also found that the MM homozygote is a potent risk factor for sporadic CJD compared to the MV heterozygote in the heterozygote comparison model (MM vs. MV, odds ratio = 4.9611, 95% confidence interval: 3.4785; 7.0758, p < 1 × 10−10). To the best of our knowledge, this was the first meta-analysis assessment of the relationship between the M129V SNP of the PRNP gene and susceptibility to sporadic CJD.

scholarly journals The Importance of Rapid Consideration of Creutzfeldt- Jakob Disease in the Differential Diagnosis of Progressive Neurodegenerative Disease: A Case Report

2016 ◽  
Vol 4 (2) ◽  
pp. 72-75
Author(s):  
Arthur Joseph ◽  
Jacob Core ◽  
Daniel Solano ◽  
Marquand Patton ◽  
Shaun Smart
Keyword(s):  
Differential Diagnosis ◽  
Status Epilepticus ◽  
High Signal ◽  
Convulsive Status Epilepticus ◽  
Rare Presentation ◽  
Progressive Encephalopathy ◽  
Jakob Disease ◽  
Low Incidence ◽  
Patient’S History ◽  
Sporadic Cjd

Background: Creutzfeldt-Jakob disease (CJD) is a prion disease characterized by misfolded proteins that lead to neurodegeneration and inevitable death. Classic sporadic CJD presents primarily with cognitive symptoms and ataxia without visual impairment at the onset of the illness. Seizure activity is a rare presentation of patients with sporadic CJD. Case: We present a rare case of rapidly progressive encephalopathy in a 57-year-old female who presented to the emergency department with bizarre behavior and vision deterioration. Imaging was unrevealing, and infectious and organic causes were ruled out. Electroencephalogram showed evidence of encephalopathy and non-convulsive status epilepticus. Magnetic resonance imaging conducted later displayed high signal intensity in centrum ovale. The patient’s history, results from diagnostic analyses, and clinical presentation suggested the diagnosis of CJD (sporadic type). Conclusion: Due to the low incidence and varying clinical presentations, it is difficult to include CJD in a differential diagnosis without specific analytic measures. However, for the benefit of the patient and healthcare resources, CJD needs to be quickly considered when rapid neurological decline or non-convulsive status epilepticus is not suggestive of another entity

scholarly journals Extensive erythema elevatum diutinum associated with IgA monoclonal gammopathy: a rare case report

2021 ◽  
Vol 7 (4) ◽  
pp. 593
Author(s):  
Manish Rijhwani ◽  
Divya Yadav ◽  
Manisha Nijhawan ◽  
Arvind Verma
Keyword(s):  
Monoclonal Gammopathy ◽  
Rare Case ◽  
Leukocytoclastic Vasculitis ◽  
Burning Sensation ◽  
Rare Form ◽  
Rare Presentation ◽  
Rare Case Report ◽  
Nodular Lesions ◽  
Erythema Elevatum Diutinum ◽  
Characteristic Features

<p class="abstract">Erythema elevatum diutinum (EED) is a rare form of leukocytoclastic vasculitis with an unclear pathogenesis. Almost 250 cases of EED have been reported in the literature, associated with several diseases and presented with various clinical features. Term 'diutinum' means chronic, describes one of the main characteristic features. The duration is very long, varying between one to more than 39 years. We report a rare presentation of EED in a 58-years-old man who presented with extensive and symmetrical, persistent, erythematous to violaceous   plaques over trunk and limbs and popular-nodular lesions present over pinna and dorsum of hands with burning sensation and itching over few lesions, in association with IgA monoclonal gammopathy.</p>

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.

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