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Article

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

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine - 15 Dec 2013

Rupprecht Sven, Grimm Alexander, Schultze Torsten, Zinke Jan, Karvouniari Panagiota, Axer Hubertus, Witte Otto W, Schwab Matthias

Abstract excerpt

Fatal familial insomnia (FFI) is a rare, hereditary prion-protein disease. Methionine-valine polymorphism at codon 129 of the prion-protein gene (PRNP) determines the phenotype in other hereditary prion-protein diseases, but association with the clinical phenotype in FFI remains uncertain. Early clinical findings in FFI comprise disturbances of the sleep-wake cycle and mild neuropsychiatric changes which...

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Identifiers

PMID: 24340298
DOI: 10.5664/jcsm.3286
PMCID: PMC3836347

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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Does the clinical phenotype of fatal familial insomnia depend on PRNP codon 129 methionine-valine polymorphism?PMID 24340298Read ↗

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