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Human Sporadic Prion Diseases

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Prions and Diseases

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Abstract

Sporadic or idiopathic prion diseases account for over 90% of all human prion diseases, and sporadic Creutzfeldt–Jakob disease (sCJD) is by far the most common. The heterogeneity of the sCJD clinical features, which was noted soon after a significant number of cases became available, led to the introduction of increasing number of “forms” or phenotypes under descriptive labels, such as myoclonic, ataxic, and amaurotic. In the 90s, Gambetti, Parchi and colleagues proposed a molecular mechanism based on the pairing of the prion protein (PrP) genotype at the methionine (M)/valine (V) polymorphic codon 129, and the type 1 or 2, of the disease-associated PrP (PrPD). This mechanism led to a rational and robust classification of sporadic prion diseases that, with some adjustments to the increasing complexities of the sporadic prion diseases, is currently in use worldwide, and has been the subject of several reviews. Recent data, however, have highlighted an additional mechanism of phenotypic heterogeneity that pertains to the sCJD subtypes heterozygous at codon 129 denoted as MV2C, MV2K, and MV1, and have further characterized the sCJDVV1 subtype as well as sporadic fatal insomnia and variably protease-sensitive prionopathy, the two prion diseases recently set apart from sCJD. This review focuses on these new data that further support and expand the molecular mechanism of phenotypic heterogeneity originally proposed. We also review a novel application of magnetic resonance imaging to identify in vivo the brain region initially impacted (epicenter) and the subsequent propagation pathway of the disease process in the major subtypes of sCJD. It is hoped that a better understanding of phenotypic heterogeneity and strain determination coupled with technologies leading to early and accurate diagnosis of sCJD subtype in vivo will lead to early and targeted therapeutics.

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Acknowledgments

We thank the National Prion Disease Pathology Surveillance Center (NPDPSC) for providing data on the prevalence and demographics of sporadic prion diseases. We are also grateful to Rabeah Bayazid for helpful comments. This study was in part supported by the National Institutes of Health award NIA grant K99AG068359 to I. Cali.

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  1. Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, OH, USA

    Pierluigi Gambetti & Ignazio Cali

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  1. Pierluigi Gambetti
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Correspondence to Pierluigi Gambetti .

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  1. Departments of Pathology and Neurology, National Prion Disease Pathology Surveillance Center, National Center for Regenerative Medicine Case Western Reserve University, School of Medicine, Cleveland, OH, USA

    Wen-Quan Zou

  2. Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, OH, USA

    Pierluigi Gambetti

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Gambetti, P., Cali, I. (2023). Human Sporadic Prion Diseases. In: Zou, WQ., Gambetti, P. (eds) Prions and Diseases. Springer, Cham. https://doi.org/10.1007/978-3-031-20565-1_18

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