.... Creutzfeldt-Jakob disease Prion disease Spongiform encephalopathy Heidenhain variant Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and fatal transmissible disease of the central nervous system and is one of the described degenerative prion diseases. Stanley B. Prusiner coined the word...

...Brian S. Appleby; Kathleen Glisic; Daniel D. Rhoads; Alberto Bizzi; Mark L. Cohen; Supriya Mahajan Background: Prion disease research and surveillance can be challenging due to the disease’s difficulty to diagnose, rapid progression, and geographic dispersion. Improving accessibility through...

... (CJD). Methods: Cases of suspected CJD have been reported to the national reference center for prion diseases. Clinical and diagnostic data were collected, and a classification of definite, possible or probable prion disease was made. Molecular analysis of PRNP was performed by capillary sequencing...

... ubiquitin-proteasome system and are involved in the pathogenesis of several human diseases, including polyglutamine diseases. HECTD2 , an E3 ubiquitin ligase, has been linked to the incubation time of prion disease in mice, and its polymorphisms have been associated with sporadic Creutzfeldt-Jakob disease...

... in their polymorphism at codon 129 of the mutant allele. A mutation at codon 171 of the PRNP gene has been described in a family with a strong psychiatric history without prion disease. Methods: Clinical and genetic information of a family with CJD was obtained from medical records and family informants. Results: We...

...Toshiro Kawashima; Katsumi Doh-ura; Miho Torisu; Yoko Uchida; Akiko Furuta; Toru Iwaki We herein report an immunohistochemical and a Western blot analysis on metal/free radical chelating proteins, metallothioneins (MTs; MT-I/II and MT-III), in the brains of human prion disease patients...