Article
Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy.
Acta neuropathologica - 1 Jan 2011
Kovacs Gabor G, Seguin Jérémie, Quadrio Isabelle, Höftberger Romana, Kapás István, Streichenberger Nathalie, Biacabe Anne Gaëlle, Meyronet David, Sciot Raf, Vandenberghe Rik, Majtenyi Katalin, László Lajos, Ströbel Thomas, Budka Herbert, Perret-Liaudet Armand
Abstract excerpt
The E200K mutation is the most frequent prion protein gene (PRNP) mutation detected worldwide that is associated with Creutzfeldt-Jakob disease (CJD) and thought to have overlapping features with sporadic CJD, yet detailed neuropathological studies have not been reported. In addition to the prion protein, deposition of tau, α-synuclein, and amyloid-β has been reported in human prion disease. To describe the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.