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Article

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features.

Brain pathology (Zurich, Switzerland) - 1 Jan 1995

Gambetti P, Parchi P, Petersen R B, Chen S G, Lugaresi E

Abstract excerpt

Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD178) are two prion diseases that have different clinical and pathological features, the same aspartic acid to asparagine mutation (D178N) at codon 178 of the prion protein (PrP) gene, but distinct genotypes generated by the methionine-valine polymorphism at codon 129 (129M or 129V) in the mutant allele of the PrP gene. The...

Topics

Adult
Creutzfeldt-Jakob Syndrome
Female
Humans
Male
Middle Aged
Mutation
Polymorphism, Genetic
PrPSc Proteins
Prion Diseases
Prions
Sleep Initiation and Maintenance Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Thalamus

Source

Identifiers

PMID: 7767490
DOI: 10.1111/j.1750-3639.1995.tb00576.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7767490-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features.PMID 7767490Read ↗

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