FATAL FAMILIAL INSOMNIA, A PRION DISEASE WITH A MUTATION AT CODON 178 OF THE PRION PROTEIN GENE

BACKGROUND. We previously described two members of a family affected by an apparently genetically determined fatal disease characterized clinically by progressive insomnia, dysautonomia, and motor signs and characterized pathologically by severe atrophy of the anterior ventral and mediodorsal thalam...

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Publicado en:N Engl J Med
Main Authors: Medori, Rossella, Tritschler, Hans-Jurgen, LeBlanc, Andréa, Villare, Federico, Manetto, Valeria, Chen, Hsiao Ying, Xue, Run, Leal, Suzanne, Montagna, Pasquale, Cortelli, Pietro, Tinuper, Paolo, Avoni, Patrizia, Mochi, Mirella, Baruzzi, Agostino, Hauw, Jean Jaques, Ott, Jurg, Lugaresi, Elio, Autilio-Gambetti, Lucila, Gambetti, Pierluigi
Formato: Artigo
Idioma:Inglês
Publicado: 1992
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6151859/
https://ncbi.nlm.nih.gov/pubmed/1346338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJM199202133260704
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