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Background <p>Genetic prion diseases caused by octapeptide repeat insertions in the PRNP gene are rare. 5-octapeptide repeat insertion (5-OPRI) is an uncommon subtype that usually manifests as Creutzfeldt–Jakob disease (CJD) but shows marked variability in clinical phenotype and disease course.</p> Discussion <p>We report a patient with rapidly progressive gCJD caused by a 5-OPRI mutation. A systematic PubMed review identified genetically confirmed 5-OPRI cases with available clinical data. Demographic characteristics, clinical features, ancillary investigations, disease course, and <i>PRNP</i> codon 129 polymorphisms were analyzed. A total of 25 patients from 14 families were included. Age at onset ranged from 26 to 63 years (mean 44.8 ± 9.9 years). Disease duration ranged from 4 to 192 months. Dementia was present in all patients, and 84% showed frontotemporal dementia–like features. Cerebellar signs, extrapyramidal symptoms, and myoclonus occurred in 68%, 60%, and 44% of patients, respectively. Periodic sharp wave complexes were detected in 29.4% of EEGs, and cerebral atrophy was observed in all patients with neuroimaging. Most patients carried the MM genotype at <i>PRNP</i> codon 129 (83.3%). A short disease course was associated with more frequent akinetic mutism and myoclonus, while MM carriers had a younger age at onset than MV carriers.</p> Conclusions <p>5-OPRI–associated CJD exhibits marked heterogeneity in clinical and disease duration. The <i>PRNP</i> codon 129 polymorphism appears to influence disease onset and progression.</p>

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Genetic Creutzfeldt–Jakob disease associated with 5-octapeptide repeat insertion in the PRNP gene: case and pedigree report and literature review

  • 期刊论文

  • 发表日期：

    2026年5月26日

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  • Qiang Geng,
  • Rui Liu,
  • Jianing Xia,
  • Yinglei Lv,
  • Zhongyun Chen,
  • Yan Lu

摘要

Background

Genetic prion diseases caused by octapeptide repeat insertions in the PRNP gene are rare. 5-octapeptide repeat insertion (5-OPRI) is an uncommon subtype that usually manifests as Creutzfeldt–Jakob disease (CJD) but shows marked variability in clinical phenotype and disease course.

Discussion

We report a patient with rapidly progressive gCJD caused by a 5-OPRI mutation. A systematic PubMed review identified genetically confirmed 5-OPRI cases with available clinical data. Demographic characteristics, clinical features, ancillary investigations, disease course, and PRNP codon 129 polymorphisms were analyzed. A total of 25 patients from 14 families were included. Age at onset ranged from 26 to 63 years (mean 44.8 ± 9.9 years). Disease duration ranged from 4 to 192 months. Dementia was present in all patients, and 84% showed frontotemporal dementia–like features. Cerebellar signs, extrapyramidal symptoms, and myoclonus occurred in 68%, 60%, and 44% of patients, respectively. Periodic sharp wave complexes were detected in 29.4% of EEGs, and cerebral atrophy was observed in all patients with neuroimaging. Most patients carried the MM genotype at PRNP codon 129 (83.3%). A short disease course was associated with more frequent akinetic mutism and myoclonus, while MM carriers had a younger age at onset than MV carriers.

Conclusions

5-OPRI–associated CJD exhibits marked heterogeneity in clinical and disease duration. The PRNP codon 129 polymorphism appears to influence disease onset and progression.