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Article

Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation.

Prion - 1 Jan 2000

Paucar Martin, Xiang Fengqing, Moore Richard, Walker Ruth, Winnberg Elisabeth, Svenningsson Per

Abstract excerpt

A minority of inherited prion diseases (IPD) are caused by four to 12 extra octapeptide repeat insertions (OPRI) in the prion protein gene (PRNP). Only four families affected by IPD with 8-OPRI have been reported, one of them was a three-generation Swedish kindred in which four of seven affected subjects had chorea which was initially attributed to Huntington's disease (HD). Following the exclusion of HD, this...

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Identifiers

PMID: 24275071
DOI: 10.4161/pri.27260
PMCID: PMC4201619

Genes

PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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