Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene

Abstract Prion diseases are neurodegenerative disorders which are caused by an accumulation of the abnormal, misfolded prion protein known as scrapie prion protein (PrPSc). These disorders are unique as they occur as sporadic, genetic and acquired forms. Sporadic Creutzfeldt-Jakob Disease (CJD) is t...

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Auteurs principaux:	Giuseppe Di Fede, Marcella Catania, Cristiana Atzori, Fabio Moda, Claudio Pasquali, Antonio Indaco, Marina Grisoli, Marta Zuffi, Maria Cristina Guaita, Roberto Testi, Stefano Taraglio, Maria Sessa, Graziano Gusmaroli, Mariacarmela Spinelli, Giulia Salzano, Giuseppe Legname, Roberto Tarletti, Laura Godi, Maurizio Pocchiari, Fabrizio Tagliavini, Daniele Imperiale, Giorgio Giaccone
Format:	Artigo
Langue:	Inglês
Publié:	BMC 2019-01-01
Collection:	Acta Neuropathologica Communications
Sujets:	Creutzfeldt-Jakob disease PRNP Prion V189I CJD PrP
Accès en ligne:	http://link.springer.com/article/10.1186/s40478-018-0656-4
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