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Article

Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation.

Neurology - 1 Sept 1996

Cochran E J, Bennett D A, Cervenáková L, Kenney K, Bernard B, Foster N L, Benson D F, Goldfarb L G, Brown P

Abstract excerpt

We report a familial form of Creutzfeldt-Jakob disease, associated with a unique insert mutation of the PRNP gene in an American family of Ukrainian origin. Ten family members exhibited early age at onset and long-duration illnesses characterized primarily by personality changes, cognitive impairment, and spasticity. The proband, presenting at age 42 years, exhibited a fairly stable, nonprogressive course over 7...

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Source

Identifiers

PMID: 8797471
DOI: 10.1212/wnl.47.3.727

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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Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation.PMID 8797471Read ↗

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

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