Research Appraisals
Evidence-based critical appraisals of the latest medical research, systematically evaluated using Oxford CEBM methodology.
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Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Genetic Creutzfeldt-Jakob disease associated with 5-octapeptide repeat insertion in the PRNP gene: case and pedigree report and literature review
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.
26 May 2026
Read appraisal →Journal of neuroradiology = Journal de neuroradiologie
Automated estimation of perivascular space and brain morphometry from deep learning-reconstructed three-dimensional T1-weighted MRI: comparison with the conventional technique
PURPOSE: To evaluate the utility of deep learning-based reconstruction (DLR) three-dimensional T1-weighted imaging (T1-WI) in improving fine structural delineation through the automated estimation of brain morphometry and perivascular space (PVS). MATERIALS AND METHODS: In this retrospective cohort study, participants who underwent T1-WI between August 2021 and June 2022 were included. Participants were categorized into normal and disease groups based on the presence of visible cerebral lesions. Cortical thicknesses and cerebral volumes from DLR T1-WI were estimated using FreeSurfer and compared to those derived from conventional T1-WI. Additionally, participants were grouped by MRI-visible PVS severity according to the number of enlarged PVS in centrum semiovale and basal ganglia. PVS volumes from DLR and conventional T1-WI were compared across these groups. Statistical comparisons were performed using a paired independent t-test with Benjamin-Hochberg adjustment. RESULTS: 240 participants (mean age: 40.8 ± 17 years) were included. In the normal group (n = 144), cortical thicknesses and volumes were significantly greater in DLR T1-WI compared to conventional T1-WI (P < 0.001). This trend was also observed in the disease group (n = 96) and in external datasets (n = 63). Across all three PVS severity groups (mild, n = 111; moderate, n = 71; severe, n = 58), DLR T1-WI significantly reduced PVS volumes and variability compared to conventional T1-WI. DLR T1-WI demonstrated PVS volumes (mild: 738.4 mm³ vs. 1408.1 mm³; moderate: 919.0 mm³ vs. 1895.8 mm³; severe: 1328.5 mm³ vs. 2711.7 mm³; all P < 0.001) and variability (mild: 224.4 mm3 vs. 420.9 mm³; moderate: 229.7 mm3 vs. 462.9 mm³; severe: 382.4 mm3 vs. 653.6 mm³) that were consistently smaller. CONCLUSION: DLR T1-WI yielded cerebral cortical thickness and volume measurements that were more consistent with expected anatomical values than those from conventional T1-WI.PVS volumes measured from DLR T1-WI exhibited less variability and better concordance with radiologists' visual assessments.
5 May 2026
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