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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 of the thalamus (dorso-median and anterior nuclei). From genetic analysis of a blood stain, retrospective diagnosis of...

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PMID: 9296141

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

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Does the clinical phenotype of fatal familial insomnia depend on PRNP codon 129 methionine-valine polymorphism?Semantic proximity Read ↗

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