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June 29, 2024Open Access

Neuropathologically-directed profiling of PRNP somatic and germline variants in sporadic human prion disease

Gannon A. McDonough Yuchen Cheng Katherine Morillo Ryan N. Doan Connor Kenny Aaron Foutz Chae Kim Mark L. Cohen Brian S. Appleby Christopher A. Walsh Jiri Safar August Yue Huang Michael B. Miller

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Abstract

Creutzfeldt-Jakob Disease (CJD), the most common human prion disease, is associated with pathologic misfolding of the prion protein (PrP), encoded by the

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McDonough et al. (2024) studied this question.

synapsesocial.com/papers/68e629a8b6db6435875bc65c https://doi.org/10.1101/2024.06.25.600668

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five octapeptide repeat insertion and unusual cerebellar morphologyOriginal Research · 2009 · 18 citations
2Prion Diseases—When Proteins Turn Lethal: Creutzfeldt–Jakob Disease (CJD) and the Quest for Classification, Diagnosis, Therapeutic Approaches, and Emerging ResearchReview · 2026 · 4 citations
3Atypical Creutzfeldt‐Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor geneOriginal Research · 1992 · 59 citations
4Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob diseaseOriginal Research · 2018 · 38 citations
5Molecular Insights into Prion Degradation in Creutzfeldt Jakob Disease’s Challenges and Future Directions: A Review2025

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