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Article

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

Acta neuropathologica - 1 Oct 1998

Liberski P P, Barcikowska M, Cervenakova L, Bratosiewicz J, Marczewska M, Brown P, Gajdusek D C

Abstract excerpt

We report here an unusual sporadic case of Creutzfeldt-Jakob disease (CJD) characterized by an abundance of prion protein (PrP)-immunopositive kuru and multicentric but not florid plaques. Molecular genetic analysis of the PRNP open reading frame region spanning codons 8-221 was performed. Neither deletion nor insertion mutations were detected in the repeat area of the PRNP. No pathogenic mutation was found in...

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Source

Identifiers

PMID: 9797009
DOI: 10.1007/s004010050915

Genes

PRNP
GSS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A case of sporadic Creutzfeldt-Jakob disease with a Gerstmann-Sträussler-Scheinker phenotype but no alterations in the PRNP gene.PMID 9797009Read ↗

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

Molecular genetic studies of Creutzfeldt-Jakob disease.Semantic proximity Read ↗

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A three-sister sibship of Gerstmann-Sträussler-Scheinker disease with a CJD phenotype.Semantic proximity Read ↗

Gerstmann-Sträussler-Scheinker syndrome neuropathology in a Creutzfeldt-Jakob disease-like phenotype patient caused by a novel 6-OPRI sequence in the PRNP gene.Semantic proximity Read ↗

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