Magnetic resonance imaging in E200K and V210I mutations of the prion protein gene

Area of Science:

• Neurology
• Radiology
• Genetics

Background:

• Magnetic resonance imaging (MRI), including diffusion-weighted imaging (DWI) and fluid-attenuated inversion recovery (FLAIR), is crucial for diagnosing Creutzfeldt-Jakob disease (CJD).
• Proposed amendments to sporadic CJD (sCJD) diagnostic criteria incorporate specific MRI findings.
• Genetic CJD (gCJD) encompasses various mutations, including E200K and V210I, presenting similar clinical features to sCJD.

Purpose of the Study:

• To compare MRI lesion profiles in genetic CJD (gCJD) patients with E200K or V210I mutations against sCJD patients.
• To evaluate the applicability of new MRI diagnostic criteria to gCJD patients.
• To assess the diagnostic utility of MRI, specifically FLAIR and DWI sequences, in identifying gCJD.

Main Methods:

• Analysis of MRI scans (FLAIR and/or DWI) from 29 gCJD patients (E200K or V210I mutations) and 29 sCJD patients.
• Neuroradiologists, blinded to diagnosis and genetic testing, rated MRI scans for hyperintensities in specific brain regions.
• Comparison of lesion profiles and frequency of MRI alterations between gCJD and sCJD groups.

Main Results:

• In gCJD patients, FLAIR showed putamen hyperintensities in 55% and caudate nucleus in 66%; DWI showed 33% and 60%, respectively.
• The lesion profile and frequency of hyperintensities in gCJD did not significantly differ from sCJD.
• New MRI criteria demonstrated comparable sensitivity for gCJD (79%) and sCJD (72%).

Conclusions:

• MRI, particularly FLAIR and DWI, provides valuable diagnostic information for E200K and V210I gCJD.
• MRI alterations in these gCJD types closely resemble those observed in sCJD.
• The findings underscore the clinical similarity between specific gCJD mutations and sCJD, supporting the use of MRI in diagnosis.