Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation casesReport as inadecuate




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Acta Neuropathologica Communications

, 1:80

First Online: 12 December 2013Received: 21 October 2013Accepted: 26 October 2013

Abstract

A novel point mutation resulting in a glutamate-to-glycine substitution in PRNP at codon 200, E200G with codon 129 MV polymorphism cis valine and type 2 PrP was identified in a patient with a prolonged disease course leading to pathology-proven Jakob-Creutzfeldt disease. Despite the same codon as the most common genetic form of human PRNP mutation, E200K, this novel mutation E200G presented with a different clinical and pathological phenotype, including prolonged duration, large vacuoles, no vacuolation in the hippocampus, severe neuronal loss in the thalamus, mild cerebellar involvement, and abundant punctate linear and curvilinear deposition of PrP in synaptic boutons and axonal terminals along the dendrites.

KeywordsCreutzfeldt-Jakob disease E200K familial CJD Synaptic PrP Curvilinear PrP Electronic supplementary materialThe online version of this article doi:10.1186-2051-5960-1-80 contains supplementary material, which is available to authorized users.

Mee-Ohk Kim, Ignazio Cali contributed equally to this work.

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Author: Mee-Ohk Kim - Ignazio Cali - Abby Oehler - Jamie C Fong - Katherine Wong - Tricia See - Jonathan S Katz - Pierluigi Gamb

Source: https://link.springer.com/



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