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Prion Volume 16, 2022 - Issue 1
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Case Reports

Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published cases

Ilaria Gandogliaa Unit of Neurology, Galliera Hospital, Genoa, ItalyView further author information
,
Laura Stradaa Unit of Neurology, Galliera Hospital, Genoa, ItalyView further author information
,
Anna Poleggib Department of Neuroscience, Istituto Superiore di Sanità, Rome, ItalyView further author information
,
Antonio Castaldic Unit of Diagnostic and Interventional Neuroradiology, Galliera Hospital, Genoa, ItalyView further author information
,
Massimo Del Setted Unit of Neurology, IRCCS Policlinico San Martino, Genoa, ItalyView further author information
&
Emilio Di Mariae Department of Health Sciences, University of Genova, Genoa, Italy;f Unit of Medical Genetics, Galliera Hospital, Genoa, ItalyCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-8357-2658View further author information
ORCID Icon
Pages 19-22 | Received 02 Nov 2021, Accepted 24 Jan 2022, Published online: 15 Feb 2022

References

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  • Peoc’h K, Manivet P, Beaudry P, et al. Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. Hum Mutat. 2000;15(5):482.
  • Jeong BH, Jeon YC, Lee YJ, et al. Creutzfeldt-Jakob disease with the V203I mutation and M129V polymorphism of the prion protein gene (PRNP) and a 17 kDa prion protein fragment. Neuropathol Appl Neurobiol. 2010;36(6):558–563.
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  • Cistaro A, Cassalia L, Ferrara C, et al. Brain 18F-FDG PET/CT findings in a case of genetic Creutzfeldt-Jakob disease due to V203I heterozygous mutation in the PRNP gene. J Neurol. 2017 Jan;264(1):170–173.
  • Kovacs GG, Rahimi J, Ströbel T, et al. Tau pathology in Creutzfeldt-Jakob disease revisited. Brain Pathol. 2017 May;27(3):332–344.
  • Tiple D, Poleggi A, Mellina V, et al. Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier. Acta Neuropathol Commun. 2019 Mar 21;7(1):47.
  • Mead S, Rudge P. CJD mimics and chameleons. Pract Neurol. 2017 Apr;17(2):113–121.
  • van der Lee SJ, Wolters FJ, Ikram MK, et al. The effect of APOE and other common genetic variants on the onset of Alzheimer’s disease and dementia: a community-based cohort study. Lancet Neurol. 2018 may 1;17(5):434–444.

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