Article
A novel human disease with abnormal prion protein sensitive to protease.
Annals of neurology - 1 Jun 2008
Gambetti Pierluigi, Dong Zhiqian, Yuan Jue, Xiao Xiangzhu, Zheng Mengjie, Alshekhlee Amer, Castellani Rudy, Cohen Mark, Barria Marcelo A, Gonzalez-Romero D, Belay Ermias D, Schonberger Lawrence B, Marder Karen, Harris Carrie, Burke James R, Montine Thomas, Wisniewski Thomas, Dickson Dennis W, Soto Claudio, Hulette Christine M, Mastrianni James A, Kong Qingzhong, Zou Wen-Quan
Abstract excerpt
OBJECTIVE: To report a novel prion disease characterized by distinct histopathological and immunostaining features, and associated with an abnormal isoform of the prion protein (PrP) that, contrary to the common prion diseases, is predominantly sensitive to protease digestion. METHODS: Eleven subjects were investigated at the National Prion Disease Pathology Surveillance Center for clinical, histopathological,...
Topics
- Age of Onset
- Aged
- Brain
- DNA Mutational Analysis
- Dementia
- Disease Progression
- Female
- Genetic Predisposition to Disease
- Genetic Testing