Diagnostic Criteria For Sporadic Creutzfeldt-Jakob Disease Research Articles

Reader response: Teaching NeuroImages: DWI and EEG findings in Creutzfeldt-Jakob disease.

We read with interest the Resident & Fellow Teaching NeuroImage by Ganesh et al.1 of a patient with Creutzfeldt-Jakob disease (CJD) presenting with rapidly progressive dementia, predominant clinical features, MRI findings of hyperintensity of the cortex and bilateral basal ganglia, and EEG (triphasic morphology). We agree with the diagnosis according to the updated clinical diagnostic criteria for sporadic CJD.2 However, it is important to provide the data on whether this patient underwent biopsy for neuropathology or if 14-3-3 protein was detected in the CSF, in order to distinguish from familial, new variant, or iatrogenic CJD. The evidence-based guideline with Level B recommendations indicated that, for patients who have rapidly progressive dementia and are strongly suspected of having sporadic CJD (sCJD), the assays for CSF 14-3-3 protein are probably moderately accurate in diagnosing sCJD.3 Despite the unavailable biopsy, the detection of protease-resistant prion by neuropathology could be helpful to the diagnosis of definite sCJD. Further studies are needed to confirm the 2015 updated diagnostic criteria for CJD in clinical practice.4

Magnetic Resonance Imaging in E200K and V210I Mutations of the Prion Protein Gene

Magnetic resonance imaging (MRI), with diffusion-weighted imaging (DWI) and fluid-attenuated inversion recovery (FLAIR), is a useful diagnostic investigation for Creutzfeldt-Jakob disease (CJD). Amendment of the diagnostic criteria for sporadic CJD (sCJD) to include defined MRI alterations has just recently been proposed. We analyzed MRI scans with FLAIR and/or DWI available of 29 patients with the E200K or the V210I mutation, and a control group of 29 sCJD patients to compare the MRI lesion profile and evaluate the applicability of new MRI criteria to genetic CJD patients. FLAIR images of all 29 patients and controls and DWI images of 15 genetic CJD and 13 sCJD were rated by 2 neuroradiologists blinded to diagnosis and genetic testing. In genetic CJD (gCJD) patients, hyperintensities on FLAIR could be found in the putamen in 55% and the caudate nucleus in 66% and on DWI in 33% and 60%, respectively. Lesion profile and frequency of hyperintensities did not differ significantly from the findings in sCJD. New diagnostic MRI criteria yield similar sensitivity for gCJD and sCJD, being 79% and 72%, respectively. MRI provides useful information in E200K and V210I gCJD patients. The alterations strongly resembled those seen in sCJD, once again demonstrating the similarity of the clinical syndrome in patients with these particular mutations.