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Article

[Fatal familial insomnia: phenotypic changes determined by polymorphism of the codon 129].

Revue neurologique - 1 May 1997

Colombier C, Géraud G, Delisle M B, Laplanche J L, Pavy le Traon A, Alizé P, Delpla P A

Abstract excerpt

We report a new case of fatal familial insomnia, characterized by mutation of codon 178 of prion protein gene and by methionine homozygosity at codon 129. This homozygotic form is revealed by severe insomnia and dysautonomia. Microscopic lesions, neuronal loss and gliosis, are limited to a part o...

Topics

Adult
Brain
Codon
Creutzfeldt-Jakob Syndrome
Heterozygote
Humans
Male
Mutation
Phenotype
Polymorphism, Genetic
Prion Diseases
Prions
Time Factors

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PMID: 9296141

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9296141-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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[Fatal familial insomnia: phenotypic changes determined by polymorphism of the codon 129].PMID 9296141Read ↗

Clinical features of fatal familial insomnia: phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene.Semantic proximity Read ↗

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Novel twelve-generation kindred of fatal familial insomnia from Germany representing the entire spectrum of disease expressionSemantic proximity Read ↗

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