Vol 55, No 1 (2021)
Letter to the Editors
Published online: 2021-02-02

open access

Page views 731
Article views/downloads 675
Get Citation

Connect on Social Media

Connect on Social Media

Probable genetic Creutzfeldt-Jakob Disease with rare E196K mutation

Katarzyna Orlewska1, Monika Błońska1, Łukasz Błoński1, Łukasz Madej2, Justyna Klusek2
Pubmed: 33528834
Neurol Neurochir Pol 2021;55(1):113-114.

Abstract

Not available

Article available in PDF format

View PDF Download PDF file

References

  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.