Variably protease‐sensitive prionopathy: A new sporadic disease of the prion protein

Zou, Wen‐Quan; Puoti, Gianfranco; Xiao, Xiangzhu; Yuan, Jue; Qing, Liuting; Calì, Ignazio; Shimoji, Miyuki; Langeveld, Jan; J. Castellani, Rudy; Notari, Silvio; J. Crain, Barbara; E. Schmidt, Robert; D. Geschwind, Michael; J. DeArmond, Stephen; J. Cairns, Nigel; W. Dickson, Dennis; S. Honig, Lawrence; María Torres, Juan; A. Mastrianni, James; Capellari, Sabina; Giaccone, Giorgio; D. Belay, Ermias; B. Schonberger, Lawrence; L. Cohen, Mark; Perry, George; Kong, Qingzhong; Parchi, Piero; Tagliavini, Fabrizio; Gambetti, Pierluigi

doi:10.1002/ana.22094

Public

Variably protease‐sensitive prionopathy: A new sporadic disease of the prion protein

Published in Annals of Neurology • Aug 1, 2010

Authors:

Wen‐Quan Zou

Gianfranco Puoti

Xiangzhu Xiao

Abstract

OBJECTIVE: The objective of the study is to report 2 new genotypic forms of protease-sensitive prionopathy (PSPr), a novel prion disease described in 2008, in 11 subjects all homozygous for valine at codon 129 of the prion protein (PrP) gene (129VV). The 2 new PSPr forms affect individuals who are e...

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Open Access

Subject

Genotype

Valine

Disease

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