Article
Creutzfeldt-Jakob disease with an M232R substitution: report of a patient showing slowly progressive disease with abundant plaque-like PrP deposits in the cerebellum.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Dec 2009
Shimizu Hiroshi, Yamada Mitsunori, Matsubara Nae, Takano Hiroki, Umeda Yoshitaka, Kawase Yasuhiro, Kitamoto Tetsuyuki, Nishizawa Masatoyo, Takahashi Hitoshi
Abstract excerpt
Patients with genetic Creutzfeldt-Jakob disease in which arginine is substituted for methionine at codon 232 (M232R) of the prion protein gene (CJD232) have been described in Japan, and a recent study has revealed the presence of two clinical phenotypes: a rapidly progressive type (rapid-type) and a slowly progressive type (slow-type). Although the former is known to show pathologic features similar to those of...
Topics
- Aged
- Atrophy
- Blotting, Western
- Cerebellum
- Cerebrum
- Creutzfeldt-Jakob Syndrome
- Disease Progression
- Gliosis
- Humans
- Immunohistochemistry
- Magnetic Resonance Imaging
- Male
- Mutation