Curation CJD PRNP
7.5 + 1 = 8.5 / 18
Genetic evidence
Total: 7.5
Category | Type | Citation | Score | Details |
|---|---|---|---|---|
Singular Evidence | Probands | 6 | Review summarized published genetic CJD cases with PRNP octapeptide-repeat insertions across 1–7 additional-repeat haplotypes, including 5-OPRI, 6-OPRI, and 7-OPRI groups with variable age at onset, disease duration, family history, and diagnostic findings. | |
Collective Evidence | Segregation | 1.5 | Goldfarb et al. screened familial spongiform encephalopathy kindreds and identified expanded PRNP octapeptide-repeat alleles in affected CJD/CJD-GSS families: 10 repeats in Kel, 12 repeats in three tested affected Ald family members with four unaffected relatives carrying normal alleles, and 13 repeats in Che, including the proband and one at-risk niece while another niece was normal. |
Experimental evidence
Total: 1
Category | Type | Citation | Score | Details |
|---|---|---|---|---|
Function | Biochemical function | 0.5 | In an HD-phenocopy screening cohort, one patient with inherited prion disease carried PRNP 5-OPRI and Met/Met at codon 129; the authors reported neuropathologically proven prion disease and protease-resistant PrP fragments. This is PRNP OPRI-associated prion biochemistry/pathology rather than a mechanistic functional assay. | |
Function | Protein interaction | 0.5 | Gene-level, not OPRI-specific: the clinical CJD review describes pathogenic PrPSc associating with normal cellular PrP and converting alpha-helical PrPC into protease-resistant beta-pleated aggregates; no PRNP OPRI-specific protein-interaction assay was provided. |