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Article

Brain 18F-FDG PET/CT findings in a case of genetic Creutzfeldt-Jakob disease due to V203I heterozygous mutation in the PRNP gene.

Journal of neurology - 1 Jan 2017

Cistaro A, Cassalia L, Ferrara C, Atzori C, Vai D, Quartuccio N, Fania P, Vaudano G P, Imperiale D

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Share to Brain
Share to Creutzfeldt-Jakob Syndrome
Share to Fluorodeoxyglucose F18
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Positron Emission Tomography Computed Tomography

Share to Prion Proteins

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Source

Identifiers

PMID: 27844164
DOI: 10.1007/s00415-016-8327-5

Genes

PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Brain 18F-FDG PET/CT findings in a case of genetic Creutzfeldt-Jakob disease due to V203I heterozygous mutation in the PRNP gene.PMID 27844164Read ↗

Creutzfeldt-Jakob disease with a novel insertion and codon 219 Lys/Lys polymorphism in PRNP.Semantic proximity Read ↗

A case of sporadic Creutzfeldt-Jakob disease with a Gerstmann-Sträussler-Scheinker phenotype but no alterations in the PRNP gene.Semantic proximity Read ↗

Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature.Semantic proximity Read ↗

Rare genetic E196A mutation in a patient with Creutzfeldt-Jakob disease: a case report and literature.Semantic proximity Read ↗

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

R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy.Semantic proximity Read ↗

Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease.Semantic proximity Read ↗

Heidenhain variant of Creutzefeldt-Jackob disease in a patient carrying the V210I mutation with asymmetric MRI abnormalities.Semantic proximity Read ↗

Polymorphism at codon 129 of PRNP affects the phenotypic expression of Creutzfeldt-Jakob disease linked to E200K mutation.Semantic proximity Read ↗

Creutzfeldt-Jakob disease in a Chinese patient with a novel seven extra-repeat insertion in PRNP.Semantic proximity Read ↗

Probable genetic Creutzfeldt-Jakob Disease with rare E196K mutation.Semantic proximity Read ↗

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