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-Reference-Cited by-同舟云学术

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

Published:2022-02-15 Issue:1 Volume:16 Page:19-22
ISSN:1933-6896
Container-title:Prion
language:en
Short-container-title:Prion

Author:

Gandoglia Ilaria¹,Strada Laura¹,Poleggi Anna²,Castaldi Antonio³,Del Sette Massimo⁴,Di Maria Emilio⁵⁶^ORCID

Affiliation:

1. Unit of Neurology, Galliera Hospital, Genoa, Italy

2. Department of Neuroscience, Istituto Superiore di Sanità, Rome, Italy

3. Unit of Diagnostic and Interventional Neuroradiology, Galliera Hospital, Genoa, Italy

4. Unit of Neurology, IRCCS Policlinico San Martino, Genoa, Italy

5. Department of Health Sciences, University of Genova, Genoa, Italy

6. Unit of Medical Genetics, Galliera Hospital, Genoa, Italy

Funder

associated

Publisher

Informa UK Limited

Subject

Infectious Diseases,Cell Biology,Cellular and Molecular Neuroscience,Biochemistry

Link

https://www.tandfonline.com/doi/pdf/10.1080/19336896.2022.2035479

Reference12 articles.

1. Prion Disease

2. Quantifying prion disease penetrance using large population control cohorts

3. Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype

4. Creutzfeldt-Jakob disease with the V203I mutation and M129V polymorphism of the prion protein gene (PRNP) and a 17 kDa prion protein fragment

5. Rare V203I mutation in thePRNPgene of a Chinese patient with Creutzfeldt–Jakob disease

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