A Japanese Case of Creutzfeldt-Jakob Disease with a Point Mutation in the Prion Protein Gene at Codon 210

Overview

Journal J Neurol Sci

Publisher Elsevier

Specialty Neurology

Date 1996 Sep 15

PMID 8880705

Citations 4

Authors

H Furukawa

T Kitamoto

H Hashiguchi

J Tateishi

Affiliations

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Abstract

We screened 111 cases of sporadic Creutzfeldt-Jakob disease (CJD) and 75 healthy control subjects in Japan to detect possible polymorphisms in their prion protein gene (PRNP). We identified a G-to-A point substitution at codon 210, leading a valine-to-isoleucine change, in a 69-year-old CJD patient. This substitution was not seen in 75 healthy control subjects.

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A case report of genetic prion disease with two different PRNP variants.

Piazza M, Prior T, Khalsa P, Appleby B Mol Genet Genomic Med. 2020; 8(3):e1134.

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Characterization of mutations in (prion) gene and their possible roles in neurodegenerative diseases.

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Pathogenic mutations in the hydrophobic core of the human prion protein can promote structural instability and misfolding.

van der Kamp M, Daggett V J Mol Biol. 2010; 404(4):732-48.

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