MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study

Abstract

BACKGROUND AND PURPOSE:The E200K mutation of the PRNP (prion protein) gene is the most common cause of familial Creutzfeldt-Jakob disease (fCJD), which has imaging and clinical features that are similar to the sporadic form. The purpose of this study was to conduct a controlled and blinded evaluation of the sensitivity and specificity of MR imaging in this unique population.

Cerebral White Matter Disruption in Creutzfeldt-Jakob Disease

“…MD is an average of the 3 diffusion coefficients, highly sensitive to CJD in gray matter. 5,7,39 In the current whole-brain voxelwise quantitative analysis, we found significant reduction of FA in corticospinal tracts, basal ganglia pathways, thalamus, and cerebellar peduncles. Moreover, these FA reductions were progressive and became worse with longer disease duration.…”

Combined Diffusion Imaging and MR Spectroscopy in the Diagnosis of Human Prion Diseases

“…These results (frequency of involvement of the basal ganglia and cortical lesions detected on DWI) are comparable with those previously described in a population of subjects with mutation 200. 36 The patient with mutation V203I had diffuse lesions on both the cortex and basal ganglia. ADC values were diminished in the basal ganglia of all patients.…”

Pruritus in familial Creutzfeldt–Jakob disease: a common symptom associated with central nervous system pathology

“…The clinical diagnosis of CJD was based on accepted diagnostic criteria [12] requiring a progressive dementia with at least two of the following features: myoclonus, visual or cerebellar symptoms, pyramidal or extrapyramidal dysfunction or akinetic mutism. Diagnoses were supported by typical MRI findings [13], by electroencephalographic findings [14], by elevated CSF tau protein levels [15] and in the familial cases by genetic testing for the E200K mutation. As part of the evaluation, patients filled a structured questionnaire of their signs and symptoms, including pruritus, and the medical records were later reviewed for the presence of pruritus as well as for demographic and clinical data.…”