Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism.

doi:10.1073/pnas.91.7.2839

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Article

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism.

Proceedings of the National Academy of Sciences of the United States of America - 29 Mar 1994

Monari L, Chen S G, Brown P, Parchi P, Petersen R B, Mikol J, Gray F, Cortelli P, Montagna P, Ghetti B

Abstract excerpt

Fatal familial insomnia and a subtype of Creutzfeldt-Jakob disease, two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asp-178-->Asn) but segregate with different genotypes determined by this mutation and the methionine-valine polymorphism at codon...

Topics

Codon
Creutzfeldt-Jakob Syndrome
Endopeptidase K
Humans
Peptide Fragments
Phenotype
Polymorphism, Genetic
PrPSc Proteins
Prion Diseases
Prions
Serine Endopeptidases
Sleep Initiation and Maintenance Disorders

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Identifiers

PMID: 7908444
DOI: 10.1073/pnas.91.7.2839
PMCID: PMC43466

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7908444-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.