Sensitivity of 14-3-3 protein test varies in subtypes of sporadic Creutzfeldt-Jakob disease

Castellani, Rudy J.; Colucci, Monica; Xie, Z.; Zou, Wen-Quan; Li, C.; Parchi, Piero; Capellari, Sabina; Pastore, Manuela; Rahbar, Mohammad H.; Chen, S. G.; Gambetti, Pierluigi

doi:10.1212/01.wnl.0000135153.96325.3b

Cited by 123 publications

(89 citation statements)

References 36 publications

(35 reference statements)

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“…Among sCJD f patients, no statistically significant differences were found between 14-3-3-positive and 14-3-3-negative cases for any of the parameters studied (Table 3). However, a tendency to a later onset and longer duration of disease was observed among 14-3-3-negative sCJD f patients, as previously described [11], and in agreement with the higher sensitivity observed in classic sCJD cases compared with non-classical presentations [12]. Table 4 summarizes the performance of the test in three categories of patients classified upon sample reception according to WHO's criteria excluding 14-3-3 test results.…”

Section: Performance Of the 14-3-3 Testsupporting

confidence: 84%

Hemidystonia Associated With Focal Status Epilepticus as Incipient Manifestations in Probable Creutzfeldt-Jakob Disease

Lee¹,

Song²,

Lee³

et al. 2008

JMD

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Background: The 14-3-3 test appears to be a valuable aid for the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) in selected populations. However, its usefulness in routine practice has been challenged. In this study, the influence of the clinical context on the performance of the 14-3-3 test for the diagnosis of sCJD is investigated through the analysis of a large prospective clinical series.

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Section: Performance Of the 14-3-3 Testsupporting

confidence: 84%

Hemidystonia Associated With Focal Status Epilepticus as Incipient Manifestations in Probable Creutzfeldt-Jakob Disease

Lee¹,

Song²,

Lee³

et al. 2008

JMD

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“…Approximately 60-80% of cases of sCJD develop the characteristic EEG periodic activity 1 , and although the sensitivity of the detection of 14-3-3 in the CSF is usually very high in the typical cases of sCJD 7 , it may be in low in cases with nonclassic p re s e n t a t i o n 8 . In our case, a diagnosis of pro b a b l e sCJD could not be assumed, a brain biopsy, however, confirmed this diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Asymmetric cortical high signal on diffusion weighted-MRI in a case of Creutzfeldt-Jakob disease

Nitrini

Areza-Fegyveres

Martins

et al. 2005

Arq. Neuro-Psiquiatr.

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-High signal in the cerebral cortex and/or basal ganglia on diffusion-weighted magnetic resonance imaging (DW-MRI) has been described as a good diagnostic marker for sporadic Creutzfeldt-Jakob disease (sCJD). We report a case of sCJD with atypical clinical evolution and unusual DW-MRI findings. A 53-year-old man was seen with a 2-year history of a rapidly progressive dementia and cerebellar ataxia. Cerebrospinal fluid analysis, including the test for 14-3-3 protein, was normal. EEG did not show periodic activity. However, DW-MRI showed gyriform hyperintensity involving practically the entire cortical ribbon of the left hemisphere, whilst being limited to the posterior cingulate gyrus in the right hemisphere. DNA analysis showed no mutations or insertions in the prion protein gene, and homozigozity for methionine in codon 129. A subsequent brain biopsy confirmed the diagnosis of CJD. Thus, high signal on DW-MRI may be limited to the cerebral cortex and may present a very asymmetric distribution in sCJD.KEY WORDS: Creutzfeldt-Jakob disease, prion disease, MRI, diffusion-weighted MRI.Hipersinal cortical assimétrico na ressonância magnética na imagem em difusão em caso de doença de Creutzfeldt-Jakob RESUMO -Hipersinal no cortex cerebral e/ou nos gânglios da base observado com a técnica de difusão da ressonância magnética (RM-DIF) tem sido descrito como bom marcador diagnóstico da doença de Cre u t z f e l d tJakob esporádica (DCJe). Relatamos caso de DCJe com evolução clínica atípica e achados incomuns na RM-DIF. Homem de 53 anos foi examinado com história de dois anos de demência rapidamente progressiva e ataxia cere b e l a r. Exame do líquido cefalorraqueano, incluindo pesquisa da proteína 14-3-3, foi normal; EEG não revelou atividade periódica; RM-DIF mostrou hiperintensidade nos giros que afetava quase inteiramente o manto cortical do hemisfério cerebral esquerdo e que no hemisfério direito se limitava à parte posterior do giro cíngulo. Análise do DNA revelou ausência de mutação ou de inserção no gene da proteína priôni-ca e a presença de homozigose para metionina no códon 129. Biópsia cerebral confirmou o diagnóstico de DCJ. Hipersinal na RM-DIF pode ser limitado ao córtex cerebral e pode distribuir-se de modo muito assimétrico na DCJe. PALAVRAS-CHAVE: doença de Creutzfeldt-Jakob, prion; ressonância magnética, difusão.

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“…50 Tau protein is also released with damage to neurons, and in classic sCJD has a sensitivity of 81% and a specificity of 85%; when tested in combination with 14-3-3 protein the positive predictive value is 91%. 9 This is in contrast to the lower sensitivity of 53% in vCJD. 5,6,18 The timing of CSF testing in relation to disease stage is crucial as well.…”

Section: Biomarkers In Csfmentioning

confidence: 93%

Creutzfeldt-Jakob disease: updated diagnostic criteria, treatment algorithm, and the utility of brain biopsy

Manix

Kalakoti

Henry

et al. 2015

FOC

157

160

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Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative condition with a rapid disease course and a mortality rate of 100%. Several forms of the disease have been described, and the most common is the sporadic type. The most challenging aspect of this disease is its diagnosis—the gold standard for definitive diagnosis is considered to be histopatho-logical confirmation—but newer tests are providing means for an antemortem diagnosis in ways less invasive than brain biopsy. Imaging studies, electroencephalography, and biomarkers are used in conjunction with the clinical picture to try to make the diagnosis of CJD without brain tissue samples, and all of these are reviewed in this article. The current diagnostic criteria are limited; test sensitivity and specificity varies with the genetics of the disease as well as the clinical stage. Physicians may be unsure of all diagnostic testing available, and may order outdated tests or prematurely request a brain biopsy when the diagnostic workup is incomplete. The authors review CJD, discuss the role of brain biopsy in this patient population, provide a diagnostic pathway for the patient presenting with rapidly progressive dementia, and propose newer diagnostic criteria.

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Sensitivity of 14-3-3 protein test varies in subtypes of sporadic Creutzfeldt-Jakob disease

Abstract: The Creutzfeldt-Jakob disease clinical subtype should be considered when interpreting results of the 14-3-3 test.

Cited by 123 publications

References 36 publications

Hemidystonia Associated With Focal Status Epilepticus as Incipient Manifestations in Probable Creutzfeldt-Jakob Disease

Hemidystonia Associated With Focal Status Epilepticus as Incipient Manifestations in Probable Creutzfeldt-Jakob Disease

Asymmetric cortical high signal on diffusion weighted-MRI in a case of Creutzfeldt-Jakob disease

Creutzfeldt-Jakob disease: updated diagnostic criteria, treatment algorithm, and the utility of brain biopsy

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