Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
Genetic Creutzfeldt-Jakob disease associated with 5-octapeptide repeat insertion in the PRNP gene: case and pedigree report and literature review.
СтатьяКлинический случайСистематический обзорНазвание и аннотация: Перевод в очереди
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Geng Qiang, Liu Rui, Xia Jianing, Lv Yinglei, Chen Zhongyun, Lu Yan
Аннотация
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.
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.