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Classification of sporadic Creutzfeldt‐Jakob disease based on molecular and phenotypic analysis of 300 subjects
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. Expand
Molecular basis of phenotypic variability in sporadc creudeldt‐jakob disease
The data indicate that the sporadic form of Creutzfeldt‐Jakob disease comprises a limited number of variants, and the methionine/valine polymorphism at codon 129 of the prion protein gene and two types of protease‐resistant prion proteins are the major determinants of these variants. Expand
Truncated Forms of the Human Prion Protein in Normal Brain and in Prion Diseases (*)
The data indicate that C1 is a major product of normal PrPc metabolism, generated by a cleavage that disrupts the neurotoxic and amyloidogenic region of PrP comprising residues 106-126, suggesting a role for C2 in prion diseases. Expand
Sporadic and familial CJD: classification and characterisation.
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. Expand
Physiology and pathophysiology
The author examines the role of Cellular Prion Protein in the Amyloid-ss Oligomer Pathophysiology of Alzheimer's Disease, as well as modeling the Cell Biology of Prions and Yeast Prions. Expand
Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei.
The thalamus is affected in diffuse degenerative processes of the nervous system and it has not been established whether a genetically determined degenerative disease may be limited in patients with this organ. Expand
Evidence for the Conformation of the Pathologic Isoform of the Prion Protein Enciphering and Propagating Prion Diversity
The results presented indicate that the conformation of PrP sc functions as a template in directing the formation of nascent PrPSc and suggest a mechanism to explain strains of prions where diversity is encrypted in the conformed PrP Sc. Expand
A novel human disease with abnormal prion protein sensitive to protease
To report a novel prion disease characterized by distinct histopathological and immunostaining features, and associated with an abnormal isoform of the prion protein (PrP) that, contrary to theExpand
Familial and sporadic fatal insomnia
Intriguing clinicopathological correlations in FFI and SFI suggest a role for the thalamolimbic system in the regulation of sleep and other circadian functions. Expand
Aberrant metal binding by prion protein in human prion disease
The results suggest that altered metal‐ion occupancy of PrP plays a pivotal role in the pathogenesis of prion diseases and presented two potential approaches in the diagnosis of CJD; the significant increase in brain manganese makes it potentially detectable by MRI, and the binding ofManganese by PrP in sCJD might represent a novel diagnostic marker. Expand