Clinical features and diagnosis of dura mater graft–associated Creutzfeldt–Jakob disease

Abstract

Background: A subset of patients with dura mater graft–associated Creutzfeldt–Jakob disease (dCJD) demonstrates atypical clinical features and plaque formation in the brain (plaque type). Objective: To elucidate the frequency and clinical features of plaque type dCJD in comparison with the non-plaque type. Methods: We analyzed clinicopathologic findings of 66 patients who had been registered as having dCJD by the Creutzfeldt–Jakob Disease Surveillance Committee, Japan, between April 1999 and February 2006. Results: 1) Analysis of pathologically confirmed dCJD patients (n = 23) demonstrated plaque type dCJD in 11 patients (48%). In contrast to the non-plaque type with classic CJD features, the plaque type commonly presented with ataxic gait as an initial manifestation, relatively slow progression of neurologic symptoms, and no or late occurrence of periodic sharp-wave complexes (PSWCs) on EEG. MRI, especially diffusion-weighted images, and CSF 14-3-3 protein and neuron specific enolase (NSE) showed high diagnostic sensitivities for plaque as well as non-plaque types. 2) Analysis of clinically diagnosed dCJD patients (n = 34) demonstrated that 7 patients (21%) had atypical clinical features without PSWCs, probably corresponding to plaque type dCJD. Conclusion: The frequency of the plaque type in dura mater graft–associated Creutzfeldt–Jakob disease is apparently higher than previously recognized. For the clinical diagnosis of the plaque type dura mater graft–associated Creutzfeldt–Jakob disease, MRI and CSF markers would be useful, in addition to the core features, i.e., onset with ataxic gait disturbance, relatively slow progression, and no or late occurrence of periodic sharp-wave complexes on EEG.