Creutzfeldt-Jakob Disease: A Disease Overview

Cyngiser, Tracy A

doi:10.1080/1086508x.2008.11079680

Cited by 16 publications

(8 citation statements)

References 5 publications

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“…The clinical diagnosis of CJD was based on accepted diagnostic criteria requiring a progressive dementia with at least two of the following features: myoclonus, visual or cerebellar symptoms, pyramidal or extrapyramidal dysfunction, or akinetic mutism. Diagnoses were supported by typical MRI findings and electroencephalographic findings , and by elevated CSF tau protein levels. All patients were confirmed as carriers of the E200K mutation.…”

Section: Methodsmentioning

confidence: 99%

CSF tau correlates with CJD disease severity and cognitive decline

et al. 2015

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Section: Methodsmentioning

confidence: 99%

CSF tau correlates with CJD disease severity and cognitive decline

et al. 2015

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“…The clinical diagnosis of CJD was based on accepted diagnostic criteria [12] requiring a progressive dementia with at least two of the following features: myoclonus, visual or cerebellar symptoms, pyramidal or extrapyramidal dysfunction or akinetic mutism. Diagnoses were supported by typical MRI findings [13], by electroencephalographic findings [14], by elevated CSF tau protein levels [15] and in the familial cases by genetic testing for the E200K mutation. As part of the evaluation, patients filled a structured questionnaire of their signs and symptoms, including pruritus, and the medical records were later reviewed for the presence of pruritus as well as for demographic and clinical data.…”

Section: Methodsmentioning

confidence: 99%

Pruritus in familial Creutzfeldt–Jakob disease: a common symptom associated with central nervous system pathology

et al. 2010

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Pruritus, a common feature of animal prion diseases such as scrapie, is rarely reported in humans with Creutzfeldt-Jakob disease (CJD), and its anatomical background is not well defined. The present study was undertaken to carry out a methodical prospective search for the prevalence of pruritus in CJD patients and investigate its anatomical substrate by MRI. The study group included consecutive familial and sporadic CJD patients carrying the E200K PRNP mutation followed up in a longitudinal prospective study between the years 2005 and 2008. Pruritus was prospectively screened for and diffusion-weighted imaging (DWI) was used to correlate brain diffusion abnormalities with pruritus in CJD patients. Pruritus was present in 6/31 (19.35%) patients with familial disease (fCJD) and in none of the patients with sporadic disease (sCJD). Pruritus was a presenting symptom in one patient and evolved during the course of the disease in the other five patients. The pruritus was generalized in three patients, regional in two and localized in one patient. It was transient in one patient and continued throughout the disease in five patients. DWI showed that pruritus was significantly associated with reduced diffusion in the several areas known to be affected by CJD, but most significantly in the midbrain periaqueductal grey matter. Pruritus is relatively common in patients with familial CJD carrying the E200K mutation. Our findings point to a central origin that involves damage to the inhibitory gating mechanism for itch in the periaqueductal grey matter.

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“…The clinical diagnosis of CJD was based on accepted diagnostic criteria [12] requiring a progressive dementia with at least two of the following features: myoclonus, visual or cerebellar symptoms, pyramidal or extrapyramidal dysfunction or akinetic mutism. Diagnoses were supported by typical magnetic resonance imaging findings [13], electroencephalographic findings [14], by elevated cerebrospinal fluid tau protein levels [15] and in familial cases by the presence of the E200K mutation.…”

Section: Methodsmentioning

confidence: 99%

Pseudo‐anticipation in Creutzfeldt–Jakob disease is due to a rhomboid‐shaped artifact

Cohen

Kahana

Korczyn

et al. 2020

Euro J of Neurology

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Background and purpose Previous studies have reported conflicting results regarding possible anticipation in familial E200K Creutzfeldt–Jakob disease (fCJD). Our objective was to use a large database to assess the age of disease onset (AODO) in CJD. Methods The study population included 477 CJD patients [266 with fCJD, 145 with sporadic CJD (sCJD) and 66 patients of Libyan origin but negative family history] from the Israeli registry of CJD conducted since 1954. In all patients, AODO in relatives and family trees was documented. Comparison of AODO was done using a paired t test and regression using Pearson correlation for birth and year of onset. Results The initial analysis in 52/73 families in which more than one generation was affected revealed an AODO of 63.30 ± 9.44 in the first generation compared to 56.96 ± 8.99 in the second generation (P < 0.001). However, inspection of individual AODO values plotted by year of birth showed a clear rhomboid methodological artifact generated by missing data of many young onset CJD patients who died before the database began to function in 1954 and of many late onset CJD patients missing at the present time since they will only develop the disease in the future. The ‘generation’ effect completely disappears if analysis is performed by year of disease onset or for the periods in which complete data are available. Conclusions In this very large dataset, true anticipation in fCJD patients was not detected. It is plausible that previous reports supporting the presence of anticipation are biased by a rhomboid‐shaped data availability artifact.

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Creutzfeldt-Jakob Disease: A Disease Overview

Cited by 16 publications

References 5 publications

CSF tau correlates with CJD disease severity and cognitive decline

CSF tau correlates with CJD disease severity and cognitive decline

Pruritus in familial Creutzfeldt–Jakob disease: a common symptom associated with central nervous system pathology

Pseudo‐anticipation in Creutzfeldt–Jakob disease is due to a rhomboid‐shaped artifact

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