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Updated: May 30, 2025
Isolation of Soluble and Insoluble PrP Oligomers in the Normal Human Brain
Published on: October 3, 2012
[Detection of brain MRI abnormalities before symptom onset in case of Creutzfeldt-Jakob disease with compound
Kyotaro Miura1, Yoshitsugu Nakamura1, Shoji Ogawa1
1Department of Internal Medicine IV, Division of Neurology, Osaka Medical and Pharmaceutical University Faculty of Medicine.
Abstract:
In an 81-year-old man, brain diffusion-weighted MRI revealed punctate high-intensity lesions in the bilateral frontal cortex. Three months later, these lesions had extended into the cerebral cortices. Six months after the original MRI, the patient developed cognitive decline. Clinically, he appeared to have Creutzfeldt-Jakob disease (CJD) based on brain MRI and cerebrospinal fluid examination findings. We identified a compound heterozygous mutation (V180I/M232R) in PRNP and diagnosed him with genetic CJD. This case of CJD with a compound heterozygous PRNP mutation had a relatively old onset, slowly progressive course, and low frequency of periodic synchronous discharges. Additionally, we detected CJD-associated brain MRI abnormalities before symptom onset. Reports of presymptomatic CJD such as the present case are important for the development of new therapeutic agents for CJD.
Insights
This case study highlights a rare genetic Creutzfeldt-Jakob disease (CJD) presentation in an elderly patient with a compound heterozygous PRNP mutation. Brain MRI detected abnormalities before cognitive decline, offering insights into presymptomatic CJD.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative prion disease.
- Genetic CJD accounts for a portion of CJD cases, often linked to PRNP gene mutations.
- Early detection and understanding of CJD subtypes are crucial for management and research.
Purpose of the Study:
- To report a unique case of genetic CJD with a compound heterozygous PRNP mutation (V180I/M232R).
- To describe the clinical and radiological presentation, including presymptomatic MRI findings.
- To discuss the implications of this case for understanding CJD heterogeneity and therapeutic development.
Main Methods:
- Case report of an 81-year-old male patient.
- Brain diffusion-weighted MRI to assess lesions.
- Cerebrospinal fluid examination.
- Genetic analysis of the PRNP gene.
Main Results:
- Punctate high-intensity lesions on diffusion-weighted MRI, progressing over three months.
- Cognitive decline six months after initial MRI.
- Diagnosis of genetic CJD confirmed by compound heterozygous PRNP mutation (V180I/M232R).
- The patient exhibited late onset, slow progression, and infrequent periodic synchronous discharges.
- CJD-associated MRI abnormalities were detected presymptomatically.
Conclusions:
- This case represents a rare genetic CJD with a compound heterozygous PRNP mutation.
- The findings underscore the importance of advanced neuroimaging in detecting presymptomatic CJD.
- Understanding such atypical presentations is vital for developing effective CJD therapies.
