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Article

Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation.

Neurology - 1 Mar 1996

Chapman J, Arlazoroff A, Goldfarb L G, Cervenakova L, Neufeld M Y, Werber E, Herbert M, Brown P, Gajdusek D C, Korczyn A D

Abstract excerpt

Fatal familial insomnia (FFI) has been exclusively associated with a pathogenic mutation at codon 178 in the PRNP gene coupled with methionine (Met) at codon 129. We now describe a subject with familial Creutzfeldt-Jakob disease, heterozygous for the pathogenic lysine (Lys) mutation at codon 200 and homozygous for Met at codon 129 of the PRNP gene, who was affected by severe insomnia. At autopsy the patient had...

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Identifiers

PMID: 8618678
DOI: 10.1212/wnl.46.3.758

Genes

PRNP

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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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Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation.PMID 8618678Read ↗

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A novel mechanism of phenotypic heterogeneity demonstrated by the effect of a polymorphism on a pathogenic mutation in the PRNP (prion protein gene).Semantic proximity Read ↗

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Fatal familial insomnia with a mutation at codon 178 of the prion protein gene: first report from Japan.Semantic proximity Read ↗

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