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Serial MRI in early Creutzfeldt-Jacob disease with a point mutation of prion protein at codon 180
Abstract:
We report a 66-year-old woman with histologically diagnosed Creutzfeldt-Jacob disease (CJD), followed with MRI from an early clinical stage. MRI demonstrated expansion of the high cortical signal on T2-weighted images, which differs from previous MRI reports of CJD. This patient followed an atypical clinical course: 16 months had passed before she developed akinetic mutism, and periodic sharp waves had not been detected on EEG after 2 years in spite of her akinetic mutism. Brain biopsy showed primary spongiform changes in the grey matter, and a point mutation of the prion protein gene at codon 180 was discovered using polymerase chain reaction direct sequencing and Tth 111 I cutting. This is the first case with the point mutation of the codon 180 variant with an atypical clinical course and characteristic MRI findings.
Insights
This study details an unusual Creutzfeldt-Jacob disease (CJD) case in a 66-year-old woman. Early MRI revealed distinct cortical signal changes, and a rare codon 180 prion gene mutation was identified.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Creutzfeldt-Jacob disease (CJD) is a rare, fatal neurodegenerative prion disease.
- Typical CJD presentations often include rapid cognitive decline and characteristic EEG abnormalities.
Observation:
- A 66-year-old woman presented with an atypical, prolonged clinical course of CJD.
- Magnetic resonance imaging (MRI) revealed early, expanded high cortical signal on T2-weighted images, differing from typical CJD findings.
- Electroencephalogram (EEG) showed no periodic sharp waves even after 2 years, despite the development of akinetic mutism.
Findings:
- Brain biopsy confirmed primary spongiform changes in the grey matter.
- Genetic analysis identified a point mutation in the prion protein gene at codon 180.
- This represents the first reported case of the codon 180 variant exhibiting an atypical clinical course and unique MRI features.
Implications:
- This case expands the understanding of CJD variability.
- Highlights the importance of advanced neuroimaging in diagnosing atypical CJD presentations.
- Suggests a potential link between the codon 180 mutation and distinct clinical and radiological phenotypes.