Journal ArticleDOI
Classification of sporadic Creutzfeldt‐Jakob disease based on molecular and phenotypic analysis of 300 subjects
Piero Parchi,Armin Giese,Sabina Capellari,Paul Brown,Walter J. Schulz-Schaeffer,Otto Windl,Inga Zerr,Herbert Budka,Nicolas Kopp,Pedro Piccardo,Sigrid Poser,Amyn M. Rojiani,Nathalie Streichemberger,Jean Julien,Claude Vital,Bernardino Ghetti,Pierluigi Gambetti,Hans A. Kretzschmar +17 more
TLDR
The present data demonstrate the existence of six phenotypic variants of sCJD, and the physicochemical properties of PrPSc in conjunction with the PRNP codon 129 genotype largely determine this phenotypesic variability, and allow a molecular classification of the disease variants.Abstract:
Phenotypic heterogeneity in sporadic Creutzfeldt-Jakob disease (sCJD) is well documented, but there is not yet a systematic classification of the disease variants. In a previous study, we showed that the polymorphic codon 129 of the prion protein gene (PRNP), and two types of protease-resistant prion protein (PrP(Sc)) with distinct physicochemical properties, are major determinants of these variants. To define the full spectrum of variants, we have examined a series of 300 sCJD patients. Clinical features, PRNP genotype, and PrP(Sc) properties were determined in all subjects. In 187, we also studied neuropathological features and immunohistochemical pattern of PrP(Sc) deposition. Seventy percent of subjects showed the classic CJD phenotype, PrP(Sc) type 1, and at least one methionine allele at codon 129; 25% of cases displayed the ataxic and kuru-plaque variants, associated to PrP(Sc) type 2, and valine homozygosity or heterozygosity at codon 129, respectively. Two additional variants, which included a thalamic form of CJD and a phenotype characterized by prominent dementia and cortical pathology, were linked to PrP(Sc) type 2 and methionine homozygosity. Finally, a rare phenotype characterized by progressive dementia was linked to PrP(Sc) type 1 and valine homozygosity. The present data demonstrate the existence of six phenotypic variants of sCJD. The physicochemical properties of PrP(Sc) in conjunction with the PRNP codon 129 genotype largely determine this phenotypic variability, and allow a molecular classification of the disease variants.read more
Citations
More filters
Journal ArticleDOI
Practice parameter: Diagnosis of dementia (an evidence-based review) Report of the Quality Standards Subcommittee of the American Academy of Neurology
Rachelle S. Doody,James C. Stevens,Cornelia Beck,Richard Dubinsky,Jeffrey Kaye,Lisa P. Gwyther,Richard C. Mohs,Leon J. Thal,Peter J. Whitehouse,Steven T. DeKosky,Jeffrey L. Cummings +10 more
TL;DR: Dementia criteria for dementia have improved since the 1994 practice parameter, and further research is needed to improve clinical definitions of dementia and its subtypes, as well as to determine the utility of various instruments of neuroimaging, biomarkers, and genetic testing in increasing diagnostic accuracy.
Journal ArticleDOI
Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease
Inga Zerr,Kai Kallenberg,David Summers,C. Romero,Ana Lia Taratuto,Uta Heinemann,Maren Breithaupt,Daniela Varges,Bettina Meissner,Anna Ladogana,Maaike Schuur,Stéphane Haïk,Steven J. Collins,Gerard H. Jansen,G. B. Stokin,José Pimentel,Ekkehard Hewer,D. Collie,Pete Smith,H. Roberts,Jean-Philippe Brandel,C M van Duijn,Maurizio Pocchiari,C. Begue,Patrick Cras,Robert G. Will,Pascual Sánchez-Juan +26 more
TL;DR: Cerebral cortical signal increase and high signal in caudate nucleus and putamen on fluid attenuated inversion recovery or diffusion-weight imaging magnetic resonance imaging are useful in the diagnosis of sporadic Creutzfeldt–Jakob disease.
Journal ArticleDOI
Anchorless prion protein results in infectious amyloid disease without clinical scrapie.
Bruce Chesebro,Bruce Chesebro,Bruce Chesebro,Matthew J. Trifilo,Matthew J. Trifilo,Matthew J. Trifilo,Richard Race,Richard Race,Richard Race,Kimberly Meade-White,Kimberly Meade-White,Kimberly Meade-White,Chao Teng,Chao Teng,Chao Teng,Rachel LaCasse,Rachel LaCasse,Rachel LaCasse,Lynne D. Raymond,Lynne D. Raymond,Lynne D. Raymond,Cynthia Favara,Cynthia Favara,Cynthia Favara,Gerald S. Baron,Gerald S. Baron,Gerald S. Baron,Suzette A. Priola,Suzette A. Priola,Suzette A. Priola,Byron Caughey,Byron Caughey,Byron Caughey,Eliezer Masliah,Eliezer Masliah,Eliezer Masliah,Michael B. A. Oldstone,Michael B. A. Oldstone,Michael B. A. Oldstone +38 more
TL;DR: In scrapie-infected transgenic mice expressing prion protein (PrP) lacking the glycosylphosphatidylinositol (GPI) membrane anchor, abnormal protease-resistant PrPres was deposited as amyloid plaques, rather than the usual nonamyloid form of PrPres, which may play a role in the pathogenesis of prion diseases.
Journal ArticleDOI
Sporadic and familial CJD: classification and characterisation
TL;DR: This review attempts to classify and characterise sporadic and familial Creutzfeldt-Jakob disease (CJD) as a function of these two disease determinants: PrP genotype and PrP(Sc) type.
Journal ArticleDOI
Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion
Ryuichiro Atarashi,Katsuya Satoh,Kazunori Sano,Takayuki Fuse,Naohiro Yamaguchi,Daisuke Ishibashi,Takehiro Matsubara,Takehiro Nakagaki,Hitoki Yamanaka,Susumu Shirabe,Masahito Yamada,Hidehiro Mizusawa,Tetsuyuki Kitamoto,Genevieve M Klug,Amelia McGlade,Steven J. Collins,Noriyuki Nishida +16 more
TL;DR: A new PrPSc amplification assay, called real-time quaking-induced conversion (RT-QUIC), which allows the detection of ≥1 fg ofPrPSc in diluted Creutzfeldt-Jakob disease (CJD) brain homogenate, and indicates the promising enhanced diagnostic capacity of RT- QUIC in the antemortem evaluation of suspected CJD.
References
More filters
Journal ArticleDOI
Novel proteinaceous infectious particles cause scrapie
TL;DR: A new term "prion" is proposed to denote a small proteinaceous infectious particle which is resistant to inactivation by most procedures that modify nucleic acids.
Journal ArticleDOI
A new variant of Creutzfeldt-Jakob disease in the UK
Robert G. Will,James W. Ironside,M. Zeidler,Simon Cousens,K Estibeiro,Annick Alpérovitch,Sigrid Poser,Maurizio Pocchiari,Albert Hofman,Pete Smith +9 more
TL;DR: Ten cases of Creutzfeldt-Jakob disease have been identified in the UK in recent months with a new neuropathological profile that raises the possibility that they are causally linked to BSE.
Journal ArticleDOI
Conversion of alpha-helices into beta-sheets features in the formation of the scrapie prion proteins.
Keh-Ming Pan,Michael J. Baldwin,J Nguyen,María Gasset,Ana Serban,Darlene Groth,Ingrid Mehlhorn,Ziwei Huang,Robert J. Fletterick,Fred E. Cohen +9 more
TL;DR: It is argued that the conversion of alpha-helices into beta-sheets underlies the formation of PrPSc, and it is likely that this conformational transition is a fundamental event in the propagation of prions.
Journal ArticleDOI
Transmissions to mice indicate that ‘new variant’ CJD is caused by the BSE agent
Moira E. Bruce,Robert G. Will,James W. Ironside,I. McConnell,D. Drummond,A. Suttie,L. McCardle,A. Chree,James Hope,Christopher R. Birkett,Simon Cousens,H. Fraser,Christopher J. Bostock +12 more
TL;DR: It is shown that the strain of agent from cattle affected by bovine spongiform encephalopathy (BSE) produces a characteristic pattern of disease in mice that is retained after experimental passage through a variety of intermediate species, providing strong evidence that the same agent strain is involved in both BSE and vCJD.
Journal ArticleDOI
Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD
TL;DR: Strain characteristics revealed here suggest that the prion protein may itself encode disease phenotype, consistent with BSE being the source of this new disease.