The comparative analysis between sporadic and genetic Creutzfeldt-Jakob disease in China.

Abstract

Objectives: Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative disorder with a fatal outcome. The present study investigated the difference on demographic, clinical and laboratory data between the patients with sporadic CJD (sCJD) and genetic CJD (gCJD).

Methods: Thirty-eight patients with CJD were enrolled in this study, including 28 patients with sCJD and 10 patients with gCJD. All patients were administered cognitive tests, brain magnetic resonance imaging (MRI), electroencephalogram (EEG), cerebrospinal fluid (CSF) 14-3-3 protein.

Results: The patients with sCJD had similar onset age, mean death and survival time to the patients with gCJD. There were slightly more males in the patients with sCJD than in the patients with gCJD (p = 0.095). The percentages of onset symptoms were similar between sCJD and gCJD groups. Patients with sCJD had more parkinsonism than patients with gCJD on neurological examinations (p = 0.037). The patients with gCJD also had slightly more disinhibitation than the patients with sCJD (p = 0.090). There were similar abnormalities percentages on MRI, EEG, and CSF 14-3-3 protein. The gCJD patients had more widespread cortex abnormalities involving the frontal, temporal, parietal and occipital lobe, compared with the sCJD patients (p = 0.012).

Conclusion: The patients with sCJD had similar epidemiological and clinical characteristics to the patients with gCJD, except more parkinsonism signs and less widespread cortex abnormalities on MRI.