Article

Neuropathologically-directed profiling of <i>PRNP</i> somatic and germline variants in sporadic human prion disease

2024-06-29

Abstract excerpt

Creutzfeldt-Jakob Disease (CJD), the most common human prion disease, is associated with pathologic misfolding of the prion protein (PrP), encoded by the PRNP gene. Of human prion disease cases, ∼1% were transmitted by misfolded PrP, ∼15% are inherited, and ∼85% are sporadic (sCJD). While familial cases are inherited through germline mutations in PRNP , the cause of sCJD is unknown. Somatic mutations have been h...

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Literature Corpus work: 94ffbc7b-8029-591c-b29e-13df6fb0e393
DOI: 10.1101/2024.06.25.600668

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