Creutzfeldt-Jakob Disease, Prion Protein Gene Codon 129VV, and a Novel PrPSc Type in a Young British Woman

Mead, Simon; Joiner, Susan; Desbruslais, Melanie; Beck, Jonathan; O’Donoghue, Michael; Wadsworth, Jonathan D. F.; Collinge, John

doi:10.1001/archneur.64.12.1780

Cited by 30 publications

(17 citation statements)

References 26 publications

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“…In addition, the positive rate of the FDC assay was as high as that of intracerebral transmission in the present study. Therefore, the FDC assay after intraperitoneal inoculation of patient materials to Ki-Bov/Bov may help in the differential diagnosis of vCJD when atypical cases emerge in CJD surveillance (33,34).…”

Section: Discussionmentioning

confidence: 99%

Characterization of Variant Creutzfeldt-Jakob Disease Prions in Prion Protein-humanized Mice Carrying Distinct Codon 129 Genotypes

Takeuchi

Kobayashi

Ironside

et al. 2013

Journal of Biological Chemistry

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Background: Secondary vCJD infection may occur in all human PRNP genotypes, but its clinicopathological and biochemical phenotype is uncertain. Results: The biochemical characteristics and transmission properties of the newly generated vCJD prions are not affected by the host PRNP genotypes. Conclusion: Secondary vCJD infection can be adequately diagnosed by biochemical analysis and experimental transmission. Significance: Effective means to identify secondary vCJD infection are presented.

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Section: Discussionmentioning

confidence: 99%

Characterization of Variant Creutzfeldt-Jakob Disease Prions in Prion Protein-humanized Mice Carrying Distinct Codon 129 Genotypes

Takeuchi

Kobayashi

Ironside

et al. 2013

Journal of Biological Chemistry

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“…21 There is accumulating evidence to suggest that all human 129 genotypes may be susceptible to vCJD infection, with apparently greater likelihood of subclinical infection in 129MV and 129VV persons. [30][31][32] …”

Section: Effect Of Genetic Variation In Susceptibilitymentioning

confidence: 99%

Prion diseases are efficiently transmitted by blood transfusion in sheep

Houston

McCutcheon

Goldmann

et al. 2008

Blood

160

138

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The emergence of variant CreutzfeldJakob disease, following on from the bovine spongiform encephalopathy (BSE) epidemic, led to concerns about the potential risk of iatrogenic transmission of disease by blood transfusion and the introduction of costly control measures to protect blood supplies. We previously reported preliminary data demonstrating the transmission of BSE and natural scrapie by blood transfusion in sheep.

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“…12 Recently, a novel PrP sc type in a patient exhibiting prion protein gene 129VV polymorphism was reported as atypical because of certain clinical and molecular PrP sc features overlapping with those of v-CJD. 13 Nonetheless, recent studies providing evidence of 'asymptomatic infected carriers' in the UK population, as well as the fourth case of 'highly probable' transfusional cases already reported today are in favour of a possible 'underground propagation' of PrP sc within the human population. [14][15][16][17][18] Though its reality may be considered as evidenced, its extent and its evolution in the exposed populations, within such long delays of asymptomatic incubation and with possible lifelong asymptomatic carrier cases, are still very difficult to estimate.…”

mentioning

confidence: 98%

Rapid diagnosis of human prion disease using streptomycin with tonsil and brain tissues

Quadrio

Ugnon-Café

Dupin

et al. 2009

Laboratory Investigation

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The use of streptomycin in the pathological prion protein (PrP sc ) detection procedures represents a new and attractive way for diagnostic purpose. With this agent, western blot readily detected PrP sc in 263K scrapie hamster and C57Bl/6 wild-type mice challenged with C506M3 scrapie strain. Our aim was to evaluate this new diagnosis procedure in the field of human transmissible spongiform encephalopathies (TSEs). First, we had confirmed the ability of streptomycin to precipitate PrP res from human brain of Creutzfeldt-Jakob disease (CJD) patient. Second, we compared the detection of PrP res with streptomycin against three other protocols using other precipitations. Then we assessed PrP res detection with streptomycin in 98 brain tissue samples from various aetiologies of human TSEs and 52 brain samples from other dementia. Finally, we applied this protocol for tonsils examination of five patients suspected of variant CJD (v-CJD). Sensitivity and specificity obtained with the streptomycin protocol were both 100% on brain tissue. For tonsil tissues, PrP res was clearly identified in the two post-mortem confirmed v-CJD cases, whereas no characteristic three-band pattern was seen in the three confirmed non-v-CJD samples. In this study, streptomycin demonstrated its efficiency to detect PrP res both in the central nervous system and in the lymphoid tissue without practical difficulty and with rapid preparation. Because of its ability to act as a good agent for PrP sc examination in different tissues, recovery of PrP sc in biological fluids using streptomycin should open further perspectives of applications in CJD diagnostics. Streptomycin effects in vivo might thus also be questioned.

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Creutzfeldt-Jakob Disease, Prion Protein Gene Codon 129VV, and a Novel PrPSc Type in a Young British Woman

Cited by 30 publications

References 26 publications

Characterization of Variant Creutzfeldt-Jakob Disease Prions in Prion Protein-humanized Mice Carrying Distinct Codon 129 Genotypes

Characterization of Variant Creutzfeldt-Jakob Disease Prions in Prion Protein-humanized Mice Carrying Distinct Codon 129 Genotypes

Prion diseases are efficiently transmitted by blood transfusion in sheep

Rapid diagnosis of human prion disease using streptomycin with tonsil and brain tissues

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