CJD_PRNP
- Gene
- PRNP
- Disease
- CJD
- Inheritance
- AD
- Classification
- Moderate
- Total Score
- 9
- Publications Reviewed
- 6
- Publication Span
- 34.09 years
- Last Updated
- 08/14/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Description
PRNP octapeptide repeat insertions (OPRIs) in the exon 2/N-terminal coding repeat region are associated with autosomal dominant genetic Creutzfeldt-Jakob disease/inherited prion disease. Uploaded sources describe the normal five-octapeptide repeat structure, familial CJD/CJD-GSS cases with expanded alleles, published OPRI genetic CJD case summaries across 1–7 additional repeats, and newer 5-OPRI reports with atypical frontotemporal dementia-like or Huntington disease-like presentations.
Genetic evidence
Total: 7.5
| Singular Evidence | Probands | PMID:29887139 | 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 | PMID:1683708 | 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. |
2 rows
Experimental evidence
Total: 1.5
| Function | Biochemical function | PMID:37379724 | 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 | PMID:29939637 | 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. |
| Function | Regulatory impact | PMID:36977684 PMID:38467784 PMID:1683708 | 0.5 |
3 rows
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.