Article
An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Apr 2010
Yoshida Hidenori, Terada Seishi, Ishizu Hideki, Ikeda Kenji, Hayabara Toshiyuki, Ikeda Kazuyo, Deguchi Kazushi, Touge Tetsuo, Kitamoto Tetsuyuki, Kuroda Shigetoshi
Abstract excerpt
We report an autopsy case of Creutzfeldt-Jakob disease with a codon 180 point mutation of the prion protein gene (PRNP). A 77-year-old woman developed gait instability, followed by dementia and limb/truncal ataxia. She became akinetic and mute 18 months and died of pneumonia 26 months after the disease onset. Analysis of the PRNP gene revealed a codon 180 point mutation. Post-mortem examination revealed marked...
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