OBJECTIVE: To describe a novel molecular and pathological phenotype of Creutzfeldt-Jakob disease. Patient A 69-year-old woman with behavioral and personality changes followed by rapidly evolving dementia. RESULTS: Postmortem examination of the brain showed intracellular prion protein deposition and axonal swellings filled with amyloid fibrils. Biochemical analysis of the pathological prion protein disclosed a previously unrecognized PrP(Sc) tertiary structure lacking diglycosylated species. Genetic analysis revealed a wild-type prion protein gene. The prion agent responsible for this atypical phenotype was successfully passaged to bank voles. CONCLUSION: To our knowledge, our results define a new human prion disorder characterized by intracellular accumulation of a novel type of pathological prion protein.
OBJECTIVE: To describe a novel molecular and pathological phenotype of Creutzfeldt-Jakob disease. Patient A 69-year-old woman with behavioral and personality changes followed by rapidly evolving dementia. RESULTS: Postmortem examination of the brain showed intracellular prion protein deposition and axonal swellings filled with amyloid fibrils. Biochemical analysis of the pathological prion protein disclosed a previously unrecognized PrP(Sc) tertiary structure lacking diglycosylated species. Genetic analysis revealed a wild-type prion protein gene. The prion agent responsible for this atypical phenotype was successfully passaged to bank voles. CONCLUSION: To our knowledge, our results define a new humanprion disorder characterized by intracellular accumulation of a novel type of pathological prion protein.
Authors: Mireya Fernández-Fournier; David C Perry; Maria Carmela Tartaglia; Mary de May; Adam Boxer; Giovanni Coppola; Chadwick W Christine; Eric J Huang; William W Seeley; Bruce L Miller; Steven J DeArmond; Lea T Grinberg; Michael D Geschwind Journal: JAMA Neurol Date: 2017-05-01 Impact factor: 18.302
Authors: Pu Chun Ke; Marc-Antonie Sani; Feng Ding; Aleksandr Kakinen; Ibrahim Javed; Frances Separovic; Thomas P Davis; Raffaele Mezzenga Journal: Chem Soc Rev Date: 2017-10-30 Impact factor: 54.564
Authors: Ana B Rodríguez-Martínez; Joseba M Garrido; Juan J Zarranz; Jose M Arteagoitia; Marian M de Pancorbo; Begoña Atarés; Miren J Bilbao; Isidro Ferrer; Ramón A Juste Journal: BMC Neurol Date: 2010-10-25 Impact factor: 2.474
Authors: Weiguanliu Zhang; Xiangzhu Xiao; Mingxuan Ding; Jue Yuan; Aaron Foutz; Mohammed Moudjou; Tetsuyuki Kitamoto; Jan P M Langeveld; Li Cui; Wen-Quan Zou Journal: Pathogens Date: 2021-04-23