Article
Creutzfeldt-Jakob disease with the M232R mutation in the prion protein gene in two cases showing different disease courses: a clinicopathological study.
Journal of the neurological sciences - 15 Jan 2012
Takeda Naoya, Yokota Osamu, Terada Seishi, Haraguchi Takashi, Nobukuni Keigo, Mizuki Reiko, Honda Hajime, Yoshida Hidenori, Kishimoto Yuki, Oshima Etsuko, Ishizu Hideki, Satoh Katsuya, Kitamoto Tetsuyuki, Ihara Yuetsu, Uchitomi Yosuke
Abstract excerpt
We report two autopsy cases of Creutzfeldt-Jakob disease (CJD) with the M232R mutation of the prion protein (PrP) gene that exhibited different clinicopathological features (age at death, 64/54 years; disease duration, 13/26 months). Both cases showed myoclonus, hyperintensity on diffusion-weighted MRI, and increased 14-3-3 protein in the cerebrospinal fluid. The initial sign in each case was memory disturbance...
Topics
- Creutzfeldt-Jakob Syndrome
- Disease Progression
- Fatal Outcome
- Humans
- Male
- Memory Disorders
- Middle Aged
- Mutation
- PrPSc Proteins