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Article

Creutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein gene.

Prion - 1 Jan 2014

Komatsu Junji, Sakai Kenji, Hamaguchi Tsuyoshi, Sugiyama Yu, Iwasa Kazuo, Yamada Masahito

Abstract excerpt

We report a Japanese patient with Creutzfeldt-Jakob disease (CJD) with a V203I homozygous mutation of the prion protein gene (PRNP). A 73-year-old woman developed rapidly progressive gait disturbance and cognitive dysfunction. Four months after the onset, she entered a state of an akinetic mutism. Gene analysis revealed a homozygous V203I mutation in the PRNP. Familial CJD with a V203I mutation is rare, and all...

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Identifiers

PMID: 25495585
DOI: 10.4161/19336896.2014.971569
PMCID: PMC4601383

Genes

PRNP

Provenance

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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