scholarly journals Variant Creutzfeldt-Jakob disease strain is identical in individuals of two PRNP codon 129 genotypes

Brain ◽  
2019 ◽  
Vol 142 (5) ◽  
pp. e22-e22
Keyword(s):  
Jakob Disease ◽  
Prnp Codon ◽  
Codon 129

Cerebrospinal Fluid Biomarker-Based Diagnosis of Sporadic Creutzfeldt-Jakob Disease: A Validation Study for Previously Established Cutoffs

2017 ◽  
Vol 43 (1-2) ◽  
pp. 71-80 ◽  
Author(s):  
Franc Llorens ◽  
André Karch ◽  
Ewa Golanska ◽  
Matthias Schmitz ◽  
Peter Lange ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Negative Correlation ◽  
Disease Duration ◽  
Population Sample ◽  
Clinical Accuracy ◽  
Jakob Disease ◽  
And Control ◽  
Fluid Biomarker ◽  
Prnp Codon ◽  
Codon 129

Background: Several biomarkers have been proposed to discriminate sporadic Creutzfeldt-Jakob disease (sCJD) from other dementias and control cases. However, their clinical accuracy depends on the PRNP codon 129 genotype, leaving it unclear how well established markers behave in untested conditions. Methods: We analyzed 14-3-3, tau, p-tau levels, and the p-tau/tau ratio in a population sample collected from Polish hospitals including nondementia, dementia, and definite sCJD cases and validated their parameters according to previously established cutoffs. Additionally, the correlation between biomarkers and disease duration as well as the influence of the PRNP129 polymorphism are reported. Results: The tau levels and p-tau/tau ratios differed considerably between sCJD and clinically characterized non-CJD cases (p < 0.001). p-tau was only elevated in sCJD when compared to cases without dementia (p < 0.05). Tau and the p-tau/tau ratio showed a sensitivity of 95 and 100%, respectively, in detecting sCJD cases. A negative correlation between tau levels and disease duration, but not the timing of lumbar puncture was observed. Conclusion: The present findings confirmed the value of the p-tau/tau ratio as a robust sCJD biomarker and suggest a role for tau as prognostic marker.

scholarly journals Variant Creutzfeldt–Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129

2017 ◽  
Vol 376 (3) ◽  
pp. 292-294 ◽  
Author(s):  
Tzehow Mok ◽  
Zane Jaunmuktane ◽  
Susan Joiner ◽  
Tracy Campbell ◽  
Catherine Morgan ◽  
...  
Keyword(s):  
Jakob Disease ◽  
Prnp Codon ◽  
Codon 129

Human Prion Diseases

2013 ◽  
pp. 149-160
Author(s):  
James W. Ironside ◽  
Matthew P. Frosch ◽  
Bernardino Ghetti
Keyword(s):  
Prion Diseases ◽  
Neuronal Loss ◽  
Transmissible Spongiform Encephalopathies ◽  
Spongiform Encephalopathy ◽  
Pituitary Hormone ◽  
Human Pituitary ◽  
Spongiform Encephalopathies ◽  
Jakob Disease ◽  
Prnp Codon ◽  
Codon 129

This chapter describes and illustrates the neuropathology of prion diseases, also known as transmissible spongiform encephalopathies. These diseases are characterized pathologically by varying combinations of spongiform change, neuronal loss, reactive gliosis, and prion protein (PrP) deposition. The morphologic pattern depends on the etiology of the disease and the genotype of the patient. Different clinicopathological phenotypes of sporadic Creutzfeldt-Jakob disease (CJD) have been described depending on the PRNP codon 129 genotype and the PrP isotype. A novel form known as variably protease-sensitive prionopathy has been recently identified. Familial prion diseases include familial CJD, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia. Over 40 different PRNP mutations have been identified. Acquired prion diseases include Kuru; iatrogenic CJD, particularly in recipients of contaminated human pituitary hormone, and variant CJD, which seems closely related to bovine spongiform encephalopathy.

scholarly journals Medial Temporal Lobe Involvement in Human Prion Diseases: Implications for the Study of Focal Non Prion Neurodegenerative Pathology

Biomolecules ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 413
Author(s):  
Alberto Rábano ◽  
Carmen Guerrero Márquez ◽  
Ramón A. Juste ◽  
María V. Geijo ◽  
Miguel Calero
Keyword(s):  
Temporal Lobe ◽  
Medial Temporal Lobe ◽  
Prion Diseases ◽  
Current Evidence ◽  
Neuron Populations ◽  
Jakob Disease ◽  
Protein Isoform ◽  
Prnp Codon ◽  
Lesion Profile ◽  
Codon 129

Human prion and non-prion neurodegenerative diseases share pathogenic mechanisms and neuropathological features. The lesion profile of a particular entity results from specific involvement of vulnerable neuron populations and connectivity circuits by a pathogenic protein isoform with strain-like properties. The lesion profile of the medial temporal lobe (MTL) was studied in postmortem tissue of 143 patients with human prion disease (HPD) including sporadic, genetic, and acquired forms. Most cases (90%) were classified according to PrPres type and/or PRNP codon 129 status, in addition to a full neuropathological profile. Mixed histotypes represented 29.4% of total sporadic Creutzfeldt-Jakob disease (sCJD) cases. An intensity score of involvement including spongiosis and astrogliosis was determined for the amygdala, presubiculum, subiculum, entorhinal cortex, CA1 to CA4 sectors of the hippocampal cortex, and dentate gyrus. Connectivity hubs within the MTL presented the highest scores. Diverse lesion profiles were obtained for different types and subtypes of HPD. Impact of mixed PrPres types on the MTL lesion profile was higher for sCJDMV2K cases than in other histotypes. Differences between MTL profiles was globally consistent with current evidence on specific strains in HPD. These results may be relevant for the analysis of possible strain effects in focal non-prion neurodegenerative conditions limited to the MTL.

Creutzfeldt-Jakob disease risk and PRNP codon 129 polymorphism: necessity to revalue current data

2005 ◽  
Vol 12 (12) ◽  
pp. 998-1001 ◽  
Author(s):  
E. Mitrova ◽  
V. Mayer ◽  
V. Jovankovicova ◽  
D. Slivarichova ◽  
L. Wsolova
Keyword(s):  
Disease Risk ◽  
Current Data ◽  
Jakob Disease ◽  
Prnp Codon ◽  
Codon 129

scholarly journals Variant Creutzfeldt-Jakob disease strain is identical in individuals of two PRNP codon 129 genotypes

Brain ◽  
2019 ◽  
Vol 142 (5) ◽  
pp. 1416-1428
Author(s):  
Abigail B Diack ◽  
Aileen Boyle ◽  
Christopher Plinston ◽  
Emma Hunt ◽  
Matthew T Bishop ◽  
...  
Keyword(s):  
Jakob Disease ◽  
Prnp Codon ◽  
Codon 129

scholarly journals Extracellular Protein Aggregates Colocalization and Neuronal Dystrophy in Comorbid Alzheimer’s and Creutzfeldt–Jakob Disease: A Micromorphological Pilot Study on 20 Brains

2021 ◽  
Vol 22 (4) ◽  
pp. 2099
Author(s):  
Nikol Jankovska ◽  
Tomas Olejar ◽  
Radoslav Matej
Keyword(s):  
Prion Protein ◽  
Fluorescent Microscopy ◽  
Amyloid Β ◽  
Amyloid Β Protein ◽  
Β Protein ◽  
Key Characteristics ◽  
Jakob Disease ◽  
Immunohistochemical Methods ◽  
Confocal Fluorescent Microscopy ◽  
Codon 129

Alzheimer’s disease (AD) and sporadic Creutzfeldt–Jakob disease (sCJD) are both characterized by extracellular pathologically conformed aggregates of amyloid proteins—amyloid β-protein (Aβ) and prion protein (PrPSc), respectively. To investigate the potential morphological colocalization of Aβ and PrPSc aggregates, we examined the hippocampal regions (archicortex and neocortex) of 20 subjects with confirmed comorbid AD and sCJD using neurohistopathological analyses, immunohistochemical methods, and confocal fluorescent microscopy. Our data showed that extracellular Aβ and PrPSc aggregates tended to be, in most cases, located separately, and “compound” plaques were relatively rare. We observed PrPSc plaque-like structures in the periphery of the non-compact parts of Aβ plaques, as well as in tau protein-positive dystrophic structures. The AD ABC score according to the NIA-Alzheimer’s association guidelines, and prion protein subtype with codon 129 methionine–valine (M/V) polymorphisms in sCJD, while representing key characteristics of these diseases, did not correlate with the morphology of the Aβ/PrPSc co-aggregates. However, our data showed that PrPSc aggregation could dominate during co-aggregation with non-compact Aβ in the periphery of Aβ plaques.

scholarly journals Atypical Creutzfeldt-Jakob Disease Evolution after Electroconvulsive Therapy for Catatonic Depression

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Iria Grande ◽  
Juan Fortea ◽  
Ellen Gelpi ◽  
Itziar Flamarique ◽  
Marc Udina ◽  
...  
Keyword(s):  
Electroconvulsive Therapy ◽  
Disease Duration ◽  
Psychiatric Symptoms ◽  
Psychiatric Admission ◽  
Disease Evolution ◽  
Clinical Recovery ◽  
Jakob Disease ◽  
Magnetic Resonance Imaging Mri ◽  
Electroencephalogram Eeg ◽  
Codon 129

We describe a case report of an 80-year-old woman who presented with symptomatology compatible with an episode of major depression with catatonia. After psychiatric admission, electroconvulsive therapy (ECT) was applied, but symptoms progressed with cognitive impairment, bradykinesia, widespread stiffness, postural tremor, and gait disturbance. After compatible magnetic resonance imaging (MRI), diffusion changes, and electroencephalogram (EEG) findings the case was reoriented to Creutzfeldt-Jakob disease (CJD). The genetic study found a methionine/valine heterozygosity at codon 129 of the prion protein gene PrPSc. On followup, a significant clinical recovery turned out. For this reason, EEG and MRI were repeated and confirmed the findings. The patient subsequently demonstrated progressive clinical deterioration and died 21 months later. The diagnosis was verified postmortem by neuropathology. The vCJD subtype MV2 is indeed characterized by early and prominent psychiatric symptoms and a prolonged disease duration however no frank clinical recovery has before been reported.

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