Variably Protease-Sensitive Prionopathy: a Novel Disease of the Prion Protein
Variably protease-sensitive prionopathy (VPSPr) is a novel disease involving the prion protein (PrP) that has clinical similarities with non-Alzheimer’s dementias especially frontotemporal dementia, diffuse Lewis body disease, and normal pressure hydrocephalus. VPSPr can be distinguished from sporadic Creutzfeldt–Jakob disease (sCJD) especially for the characteristics of the abnormal PrP. Furthermore, although VPSPr like sCJD affects patients with the three PrP genotypes as determined by the common methionine/valine polymorphism, the allelic prevalence is very different in the two diseases. These findings suggest that VPSPr is basically different from classical prion diseases such as sCJD being perhaps more akin to other neurodegenerative dementias.
KeywordsVariably protease-sensitive prionopathy Prions Prion protein Prion diseases Creutzfeldt–Jakob disease Alzheimer’s disease
This study was supported by the grants (to P.G.) from the National Institutes of Health (NIH) AG14359 and AG08702, the Centers for Disease Control and Prevention (CCU 515004), and the Britton Fund, and by grants (to W.Q.Z.) from NIH R01NS062787, the CJD Foundation, Alliance BioSecure, and the University Center on Aging and Health with the support of the McGregor Foundation and the President’s Discretionary Fund (Case Western Reserve University).
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