Clinical Features of Fatal Familial Insomnia: Phenotypic Variability in Relation to a Polymorphism at Codon 129 of the Prion Protein Gene

Fatal Familial Insomnia is a hereditary prion disease characterized by a mutation at codon 178 of the prion protein gene cosegregating with the methionine polymorphism at codon 129 of the mutated allele. It is characterized by disturbances of the wake‐sleep cycle, dysautonomia and somatomotor manife...

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Publicado en:Brain Pathol
Autores principales: Montagna, Pasquale, Cortelli, Pietro, Avoni, Patrizia, Tinuper, Paolo, Plazzi, Giuseppe, Gallassi, Roberto, Portaluppi, Francesco, Julien, Jean, Vital, Claude, Delisle, Marie Bernadette, Gambetti, Pierluigi, Lugaresi, Elio
Formato: Artigo
Lenguaje:Inglês
Publicado: Blackwell Publishing Ltd 2006
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC8098256/
https://ncbi.nlm.nih.gov/pubmed/9669701
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.1998.tb00172.x
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