Human Prion disease with a T188K mutation in Chinese: a case report

Shi, Qi; Gao, Chen; Zhou, Wei; Zhang, Bao-Yun; Tian, Chan; Chen, Jianming; Jiang, Hongjin; Han, Jun; Dong, Xiao‐Ping

doi:10.1186/1757-1626-2-7820

Cited by 9 publications

(6 citation statements)

References 5 publications

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“…Different genetic CJD (gCJD), fatal familial insomnia (FFI) and Gerstmann-Sträussler-Scheinker syndrome (GSS) cases have been identified. [6][7][8] Here we reported a 71-year-old Chinese woman suffered from gCJD of E196K mutation in PRNP, who started with non-specific symptoms without family history of the similar neurological disorders.…”

Section: Introductionmentioning

confidence: 89%

A Chinese Creutzfeldt-Jakob disease patient with E196K mutation inPRNP

Shi

Chen

Song

et al. 2011

Prion

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Section: Introductionmentioning

confidence: 89%

A Chinese Creutzfeldt-Jakob disease patient with E196K mutation inPRNP

Shi

Chen

Song

et al. 2011

Prion

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“…The epidemiological, clinical, and neuropathological features of E200K and T188K gCJD are more like those of sCJD [25][26][27], whereas FFI shows distinct pattern [28]. Despite the relatively small sample sizes of those rare genetic cases, E200K and T188K gCJD show the similar alterative tendencies of tau isoforms with exon-2 and exon-10 encoded segments in CSF as sCJD, while FFI does not.…”

Section: Discussionmentioning

confidence: 88%

The Levels of Tau Isoforms Containing Exon-2 and Exon-10 Segments Increased in the Cerebrospinal Fluids of the Patients with Sporadic Creutzfeldt-Jakob Disease

Chen

Zhou

et al. 2015

Mol Neurobiol

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The alteration of protein tau in the cerebrospinal fluid (CSF) of Creutzfeldt-Jakob disease (CJD) has been widely evaluated, possessing a significant diagnostic value for CJD. With the biotin-labeled tau-exon-specific mAbs, direct ELISA methods were established and the levels of tau isoforms containing exon-2 and exon-10 segments in CSF of the patients with various human prion diseases and in brain tissues of scrapie-infected animals were evaluated. The results showed that the levels of tau, especially containing four repeats in microtubule binding domain, were increased in the CSF samples of the patients with sporadic CJD (sCJD). Using the unlabeled (cold) mixed exon-specific mAbs, a competitive tau ELISA was conducted based on a commercial tau kit. It revealed that the majority of the increased tau in the CSF of sCJD cases was derived from the tau isoforms with exon-2 and exon-10 segments. Increases of CSF tau isoforms with exon-2 and exon-10 segments were also observed in the patients of E200K and T188K genetic CJD (gCJD), but not in the cases of fatal familiar insomnia (FFI). The increasing levels of tau isoforms with exon-2 and exon-10 segments in the group of sCJD correlated well with the positive 14-3-3 in CSF. Additionally, the similar alterative profiles of tau isoforms with exon-2 and exon-10 segments were also observed in the brain tissues of scrapie-infected rodents and a sCJD patient. Our data here propose the tau isoforms with exon-2 and exon-10 segments increase in CSF of sCJD and some types of gCJD, which may help to understand the physiological metabolism and pathological significance of various tau isoforms in the pathogenesis of prion diseases.

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“…As expected, the median ELISA values of CSF 14-3-3 in the groups of T188K, E196A, and E200K gCJD cases are higher than that of P102L GSS and D178N FFI cases. From the aspect of clinical manifestations, T188K, E196A, and E200K gCJD are more like sCJD (Shi et al, 2009, 2015, 2016, 2017; Gao et al, 2010; Chen et al, 2013; Zhang et al, 2014). In CSF laboratory, higher ratios of T188K, E196A, and E200K gCJD cases reveal 14-3-3 positive in WB.…”

Section: Discussionmentioning

confidence: 99%

Profiles of 14-3-3 and Total Tau in CSF Samples of Chinese Patients of Different Genetic Prion Diseases

Chen

Shi

et al. 2019

Front. Neurosci.

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BackgroundThe abnormal alterations of proteins 14-3-3 and tau in cerebrospinal fluid (CSF) are widely used for the diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD), while the situations of CSF biomarkers in genetic prion diseases (gPrDs), particularly in Chinese gPrDs patients, have not been well documented.MethodsHere, with the help of commercial 14-3-3 and total tau ELISA kits, we evaluated the levels of proteins 14-3-3 and tau in the CSF samples of 140 Chinese patients of 14 different types of gPrDs.ResultsWe found that CSF 14-3-3 ELISA values in the patients with P102L GSS and D178N FFI were remarkably low, while those in the patients with T188K, E196A, and E200K gCJD were relatively high. Linear correlation assays identified a positive correlation between positive rate in Western blot (WB) and ELISA values of CSF 14-3-3. ELISA assays for total tau in CSF samples identified relatively high levels in the cases of T188K, E196A, and E200K gCJD (median: 133840.81, 159992.80, and 153342.92 AU/ml), but relatively low levels in those of P102L GSS and D178N FFI (median: 64397.77 and 43856.79 AU/ml).ConclusionThese data illustrate heterogeneous profiles of CSF 14-3-3 and tau in various types of gPrDs, depending on the differences in the mutations in PRNP.

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Human Prion disease with a T188K mutation in Chinese: a case report

Cited by 9 publications

References 5 publications

A Chinese Creutzfeldt-Jakob disease patient with E196K mutation inPRNP

A Chinese Creutzfeldt-Jakob disease patient with E196K mutation inPRNP

The Levels of Tau Isoforms Containing Exon-2 and Exon-10 Segments Increased in the Cerebrospinal Fluids of the Patients with Sporadic Creutzfeldt-Jakob Disease

Profiles of 14-3-3 and Total Tau in CSF Samples of Chinese Patients of Different Genetic Prion Diseases

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