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 High Incidence of Sporadic Creutzfeldt-Jakob Disease in Slovenia in 2015: A Case Series

2018 ◽  
Vol 8 (1) ◽  
pp. 42-50
Author(s):  
Tomaž Rus ◽  
Bogdan Lorber ◽  
Maja Trošt ◽  
Srečko Dobrecovič ◽  
Nuška Čakš Jager ◽  
...  
Keyword(s):  
Neurodegenerative Disorder ◽  
Case Series ◽  
Progressive Dementia ◽  
High Incidence ◽  
Jakob Disease ◽  
Sporadic Cases ◽  
Rapid Cognitive Decline ◽  
Clinical Diagnostic Criteria ◽  
Sporadic Cjd

Background: Creutzfeldt-Jakob disease (CJD) is a rare fatal neurodegenerative disorder presenting with rapid cognitive decline and additional signs. The clinical characteristics of an increasing number of sporadic CJD (sCJD) patients admitted to the Ljubljana University Medical Centre are presented as well as the incidence of sCJD in Slovenia in 2015 compared to previous years. Methods: We investigated patients presenting with rapidly progressive dementia and at least one additional sign. The diagnosis was made based on clinical diagnostic criteria and an autopsy was performed in all cases. Data on definite sCJD cases in Slovenia since 1999 were obtained and its incidence was calculated. Results: Eight patients with definite sCJD died in 2015 in Slovenia (incidence: 3.89 cases per million). The long-term incidence 1999 was 1.67 per million. Conclusions: The incidence of sCJD was considerably higher in 2015. It reflects fluctuations in sporadic cases of this rare disease. The rising trend might indicate a previous underestimation and better recognition of the disease.

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 An Evaluation of Rapidly Progressive Dementia Culminating in a Diagnosis of Creutzfeldt–Jakob Disease

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Parmvir Parmar ◽  
Curtis L. Cooper ◽  
Daniel Kobewka
Keyword(s):  
Differential Diagnosis ◽  
Cognitive Deficits ◽  
Autoimmune Encephalitis ◽  
Illustrative Case ◽  
Visual Hallucinations ◽  
Progressive Dementia ◽  
History Of ◽  
Jakob Disease ◽  
Clinical Description ◽  
Sporadic Cjd

Rapidly progressive dementia is a curious and elusive clinical description of a pattern of cognitive deficits that progresses faster than typical dementia syndromes. The differential diagnosis and clinical workup for rapidly progressive dementia are quite extensive and involve searching for infectious, inflammatory, autoimmune, neoplastic, metabolic, and neurodegenerative causes. We present the case of a previously highly functional 76-year-old individual who presented with a 6-month history of rapidly progressive dementia. His most prominent symptoms were cognitive impairment, aphasia, visual hallucinations, and ataxia. Following an extensive battery of tests in hospital, the differential diagnosis remained probable CJD versus autoimmune encephalitis. He clinically deteriorated and progressed to akinetic mutism and myoclonus. He passed away 8 weeks after his initial presentation to hospital, and an autopsy confirmed a diagnosis of sporadic CJD. We use this illustrative case as a framework to discuss the clinical and diagnostic considerations in the workup for rapidly progressive dementia. We also discuss CJD and autoimmune encephalitis, the two main diagnostic possibilities in our patient, in more detail.

scholarly journals Inflammatory Cerebrospinal Fluid in Sporadic Creutzfeldt-Jakob Disease

2008 ◽  
Vol 35 (5) ◽  
pp. 625-629
Author(s):  
Esther Bui ◽  
Eric Ehrensperger ◽  
Demetrios J. Sahlas ◽  
Brian J. Murray ◽  
Catherine Bergeron ◽  
...  
Keyword(s):  
Immune Response ◽  
Cerebrospinal Fluid ◽  
Transmissible Spongiform Encephalopathy ◽  
Underlying Mechanism ◽  
Spongiform Encephalopathy ◽  
Progressive Dementia ◽  
Jakob Disease ◽  
Csf Pleocytosis ◽  
Inflammatory Profile ◽  
Sporadic Cjd

Background:Sporadic Creutzfeldt-Jakob disease (CJD) is a fatal, transmissible spongiform encephalopathy characterized by rapidly progressive dementia, myoclonus, ataxia and akinetic mutism. The underlying mechanism is believed to be a conformational change of a native prion protein which characteristically fails to provoke an immune response. Commensurate with the latter, cerebrospinal fluid (CSF) classically exhibits a non-inflammatory profile.Cases:We report two patients with pathologically-proven sporadic CJD presenting with a significant CSF pleocytosis.Conclusion:Although uncommon, the presence of an inflammatory CSF profile should not exclude the diagnosis of sporadic CJD.

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 Sporadic Creutzfeldt Jakob Disease: A Patient with Dementia and Involuntary Movement Myoclonus

2016 ◽  
Vol 12 (2) ◽  
pp. 141-144
Author(s):  
Mohd Mozibor Rahman ◽  
Sanzida Akhter ◽  
Noor E Jabeen
Keyword(s):  
Histopathological Examination ◽  
Involuntary Movement ◽  
Armed Forces ◽  
University Hospital ◽  
Mri Findings ◽  
Progressive Dementia ◽  
Diagnostic Features ◽  
Extrapyramidal Signs ◽  
National University ◽  
Jakob Disease

Creutzfeldt Jakob Disease (CJD) is an incurable, invariably fatal, rapidly progressive neurodegenerative disease caused by an abnormal isoform of a cellular glycoprotein known as the prion protein. CJD occurs worldwide, estimated annual incidence is about one case per million populations per year. Sporadic (sCJD) is a human prion disease; infection with this disease usually leads to death within one year of onset of illness. The characteristic clinical and diagnostic features of rapidly progressive dementia, myoclonus, visual or cerebellar signs, pyramidal and extrapyramidal signs, akinetic mutism and positive result on the presence of 14-3-3 protein in CSF assay, typical EEG features and MRI findings of brain are highly suggestive of diagnosis. Biopsy of brain for histopathological examination is more specific and confirmatory for diagnosis. This article reports a 65 years old lady of sCJD who was diagnosed by characteristic findings of MRI of brain, Electro-encephalography (EEG) and cerebrospinal fluid (CSF) assay at National University Hospital (NUH) Singapore and now admitted at United Hospital Limited (UHL) Dhaka for palliative and supportive management Journal of Armed Forces Medical College Bangladesh Vol.12(2) 2016: 141-144

scholarly journals A rare case of sporadic Creutzfeldt-Jakob disease in an 83 years old female

2021 ◽  
Vol 8 (2) ◽  
pp. 279
Author(s):  
Medo M. Kuotsu ◽  
Arjun Bal Kallupurakkal ◽  
Nyamnyei Konyak ◽  
Keisham Jaya Chanu ◽  
Vikie-o Khruomo ◽  
...  
Keyword(s):  
Prion Disease ◽  
Alpha Helix ◽  
Cellular Prion Protein ◽  
Progressive Dementia ◽  
Extrapyramidal Signs ◽  
Control And Prevention ◽  
Weighted Magnetic Resonance Imaging ◽  
Jakob Disease ◽  
Magnetic Resonance Imaging Mri ◽  
Electroencephalogram Eeg

Sporadic Creutzfeldt-Jakob disease is a rare invariably fatal neurodegenerative prion disease. Prion disease are associated with the conversion of alpha-helix rich cellular prion protein (PrPC) into a beta-structure rich insoluble conformer scrapie isoform (PrPSc) thought to be infectious isoform. Here we present a case of an 83 years old woman with findings of rapidly progressive dementia, cognitive disturbance, myoclonic jerks and extrapyramidal signs (cogwheel rigidity). Following a series of clinical and diagnostic (diffusion-weighted magnetic resonance imaging (MRI) brain, electroencephalogram (EEG)) examination she was diagnosed with sporadic Creutzfeldt-Jakob disease based on Centers for disease control and prevention (CDC) criteria.

scholarly journals SPORADIC CREUTZFELDT-JAKOB DISEASE: A CLINICAL APPROACH OF A SMALL CASE SERIES AND LITERATURE REVIEW

2017 ◽  
Vol 16 (3) ◽  
pp. 109-115
Author(s):  
Sebastian Andone ◽  
◽  
Sanda Petrutiu ◽  
Zoltan Bajko ◽  
Anca Motataianu ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Series ◽  
Neuronal Loss ◽  
Cerebral Atrophy ◽  
Clinical Approach ◽  
Diagnostic Challenge ◽  
Progressive Dementia ◽  
Alternative Diagnosis ◽  
Extrapyramidal Signs ◽  
Jakob Disease

Introduction. Creutzfeldt-Jakob Disease (CJD) is a very rare neurodegenerative disease with no cure that always leads to death. It is the most frequent prion disease and has multiple recognized forms, from which the sporadic form (sCJD) is the most common. The defining histological characteristic of CJD is the accumulation of the abnormal prion protein (PrPSc) along with neuronal loss and spongiform vacuolation. Typical neurological signs found in sCJD are rapidly progressive dementia, myoclonus, visual disturbances, pyramidal signs, extrapyramidal signs, behavioral changes and akinetic mutism. Material and method. We performed a retrospective study over the 2007-2017 period that included five cases of patients diagnosed with probable sCJD from our department. Results. The most common findings in the patients’ MRI were cerebral atrophy and ventricular enlargement, but we also found typical MRI changes such as increased T2 and FLAIR signal intensity in the head of the caudate nucleus, putamen and cerebral cortex. Repeated electroencephalograms showed typical sCJD patterns like periodic sharp wave complexes, mostly with biphasic or triphasic aspect. A complex differential diagnosis and numerous routine investigations (CBC, biochemical analysis, autoimmune panel, HIV antibodies, VDRL, anti-Borrelia antibodies, anti-TPO antibodies, anti-neuronal antibodies, B12 vitamin) were performed, without indicating an alternative diagnosis. All the patients died several months after the onset of symptoms. Conclusions. Given the rarity of the disease and the broad differential diagnosis, CJD proves to be a diagnostic challenge. In the absence of an alternative diagnosis, the association of rapidly progressive dementia, myoclonus, visual and cerebellar signs are highly suggestive for sCJD.

scholarly journals In vivo [18F]-AV-1451 tau-PET imaging in sporadic Creutzfeldt-Jakob disease

Neurology ◽  
2018 ◽  
Vol 90 (10) ◽  
pp. e896-e906 ◽  
Author(s):  
Gregory S. Day ◽  
Brian A. Gordon ◽  
Richard J. Perrin ◽  
Nigel J. Cairns ◽  
Helen Beaumont ◽  
...  
Keyword(s):  
Clinical Diagnosis ◽  
Standardized Uptake Value ◽  
Progressive Dementia ◽  
Pet Tracer ◽  
Jakob Disease ◽  
Tau Pet ◽  
Magnetic Resonance Brain Imaging ◽  
Sporadic Cjd

ObjectiveTo determine whether specific patterns of [18F]-AV-1451 tau-PET retention are observed in patients with autopsy-proven sporadic Creutzfeldt-Jakob disease (CJD).MethodsIn vivo [18F]-AV-1451 PET neuroimaging was performed in 5 patients with sporadic CJD (median age, 66 years [63–74]), and results were compared to cognitively normal (CN) persons (n = 44; median age, 68 years [63–74]) and to participants with very mild Alzheimer disease (AD) dementia (n = 8; median age, 77 years [63–90]). Autopsy was completed in all patients with CJD, confirming the clinical diagnosis and permitting characterization of AD neuropathologic change (ADNC).ResultsAll patients with CJD presented with rapidly progressive dementia, typical magnetic resonance brain imaging changes, and elevated CSF total tau (median = 6,519; range = 1,528–13,240 pg/mL). Death occurred within 9 months of symptom onset, with a median 1 month (0.2–3.3) interval from [18F]-AV-1451 PET to autopsy. No unique pattern of [18F]-AV-1451 retention was observed on visual inspection. Summary standardized uptake value ratios in patients with CJD (1.17, 1.08–1.36) were indistinguishable from CN persons (1.14, 0.84–1.54; p = 0.6), and well below those of participants with AD (2.23, 1.60–3.04; p ≤ 0.01). [18F]-AV-1451 retention in patients with CJD and CN persons was similar in brain areas frequently affected in AD and CJD. Neuropathologic analysis confirmed the clinical diagnosis in all patients with CJD. Four patients with CJD also had low-level ADNC (A1B1C0); one patient had intermediate-level ADNC (A2B2C1/2).ConclusionIncreased [18F]-AV-1451 retention was not observed in patients with rapidly progressive dementia due to sporadic CJD. The [18F]-AV-1451 PET tracer maintains good specificity for paired helical tau filaments associated with AD dementia.

Autoimmunity and Frontotemporal Dementia

2018 ◽  
Vol 15 (7) ◽  
pp. 602-609 ◽  
Author(s):  
Antonella Alberici ◽  
Viviana Cristillo ◽  
Stefano Gazzina ◽  
Alberto Benussi ◽  
Alessandro Padovani ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Language Impairment ◽  
Neurodegenerative Disorder ◽  
Chromosome 9 ◽  
Bibliographic Databases ◽  
Extensive Literature ◽  
Genetic Studies ◽  
Reading Frame ◽  
Current State ◽  
Extensive Evaluation

Background: Frontotemporal Dementia (FTD) is a neurodegenerative disorder which asymmetrically affects the frontotemporal lobe, characterized by behavioural abnormalities, language impairment, and deficits of executive functions. Genetic studies identified mutations causing the disease, namely Microtubule Associated Protein Tau (MAPT), Granulin (GRN) and chromosome 9 open reading frame 72 (C9orf72) mutations, which contributed to elucidate the molecular pathways involved in brain depositions of either Tau or TAR DNA-binding protein 43 (TDP43) inclusions. However, in the majority of sporadic FTD patients, the mechanisms triggering Tau or TDP43 protein deposition are still to be uncovered. Objective: We aimed to present an extensive evaluation of literature data on immune homeostasis in FTD, in order to provide potentially evidence-based approaches for a disease still orphan of any treatment. Methods: A structured search of bibliographic databases from peer-reviewed literature was pursued focusing on autoimmunity in the brain and FTD. Results: One-hundred-fourteen papers were included in this review. The majority of studies (32) were represented by extensive literature revision on immunity, central nervous system (CNS) and autoimmunity; neuroimaging papers (11) in autoimmune diseases were evaluated, and immunomodulatory approaches (25) were revised. Six papers were found specifically related to FTD and autoimmune hypothesis, the other papers referring to current state of art on FTD. Conclusion: Overall this review contribute to expand the knowledge of a possible immune hypothesis in FTD, suggesting therapeutic perspectives in autoimmune related neurodegeneration, to reduce or revert the disease.

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