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Probable genetic Creutzfeldt-Jakob Disease with rare E196K mutation
Affiliations- Tytus Chałubiński’s Hospital, Zakopane, Poland
- Collegium Medicum, Jan Kochanowski University, Kielce, Poland
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Abstract
Abstract
Keywords
genetic Creutzfeldt-Jakob Disease, E196K mutation
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About this articleTitle
Probable genetic Creutzfeldt-Jakob Disease with rare E196K mutation
Journal
Neurologia i Neurochirurgia Polska
Issue
Article type
Letter to the Editors
Pages
113-114
Published online
2021-02-02
Page views
652
Article views/downloads
624
DOI
Pubmed
Bibliographic record
Neurol Neurochir Pol 2021;55(1):113-114.
Keywords
genetic Creutzfeldt-Jakob Disease
E196K mutation
Authors
Katarzyna Orlewska
Monika Błońska
Łukasz Błoński
Łukasz Madej
Justyna Klusek
References (9)- Jeong BH, Kim YS. Genetic studies in human prion diseases. J Korean Med Sci. 2014; 29(5): 623–632.
- Di Fede G, Catania M, Atzori C, et al. Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene. Acta Neuropathol Commun. 2019; 7(1): 1.
- Eigenbrod S, Frick P, Giese A, et al. Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity. J Neuropathol Exp Neurol. 2011; 70(3): 192–200.
- Nitrini R, Mendonça RA, Huang N, et al. Diffusion-weighted MRI in two cases of familial Creutzfeldt--Jakob disease. J Neurol Sci. 2001; 184(2): 163–167.
- Béjot Y, Osseby GV, Caillier M, et al. Rare E196K mutation in the PRNP gene of a patient exhibiting behavioral abnormalities. Clin Neurol Neurosurg. 2010; 112(3): 244–247.
- Krasnianski A, Heinemann U, Ponto C, et al. Clinical findings and diagnosis in genetic prion diseases in Germany. Eur J Epidemiol. 2016; 31(2): 187–196.
- Shi Qi, Chen C, Song XN, et al. A Chinese Creutzfeldt-Jakob disease patient with E196K mutation inPRNP. Prion. 2014; 5(2): 117–120.
- Shi Qi, Zhou W, Chen C, et al. Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease. Prion. 2016; 10(4): 331–337.
- Zimowski J, Kulczycki J, Lojkowska W, et al. Hereditary form of prion disease in Poland. Neurol Neurochir Pol. 2012; 46(6): 509–518.
