Article
Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene.
BMJ open - 16 May 2014
Qina Temu, Sanjo Nobuo, Hizume Masaki, Higuma Maya, Tomita Makoto, Atarashi Ryuichiro, Satoh Katsuya, Nozaki Ichiro, Hamaguchi Tsuyoshi, Nakamura Yosikazu, Kobayashi Atsushi, Kitamoto Tetsuyuki, Murayama Shigeo, Murai Hiroyuki, Yamada Masahito, Mizusawa Hidehiro
Abstract excerpt
OBJECTIVES: Genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings. However, few systematic observations about the clinical features in patients with this unique mutation have been published....
Topics
- Adult
- Aged
- Aged, 80 and over
- Creutzfeldt-Jakob Syndrome
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Prion Proteins
- Prions
- Retrospective Studies