open access

Vol 55, No 1 (2021)
Letter to the Editors
Published online: 2021-02-02
Submitted: 2020-11-14
Accepted: 2021-01-15
Get Citation

Probable genetic Creutzfeldt-Jakob Disease with rare E196K mutation

Katarzyna Orlewska, Monika Błońska, Łukasz Błoński, Łukasz Madej, Justyna Klusek
DOI: 10.5603/PJNNS.a2021.0009
·
Pubmed: 33528834
·
Neurol Neurochir Pol 2021;55(1):113-114.

open access

Vol 55, No 1 (2021)
Letters to the Editors
Published online: 2021-02-02
Submitted: 2020-11-14
Accepted: 2021-01-15

Abstract

Not available

Abstract

Not available
Get Citation

Keywords

genetic Creutzfeldt-Jakob Disease, E196K mutation

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About this article
Title

Probable genetic Creutzfeldt-Jakob Disease with rare E196K mutation

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 55, No 1 (2021)

Article type

Letter to the Editors

Pages

113-114

Published online

2021-02-02

DOI

10.5603/PJNNS.a2021.0009

Pubmed

33528834

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)
  1. Jeong BH, Kim YS. Genetic studies in human prion diseases. J Korean Med Sci. 2014; 29(5): 623–632.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Shi Qi, Chen C, Song XN, et al. A Chinese Creutzfeldt-Jakob disease patient with E196K mutation inPRNP. Prion. 2014; 5(2): 117–120.
  8. 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.
  9. Zimowski J, Kulczycki J, Lojkowska W, et al. Hereditary form of prion disease in Poland. Neurol Neurochir Pol. 2012; 46(6): 509–518.

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