Article
A novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes.
Journal of neurology - 1 Jan 2013
Muñoz-Nieto Mercedes, Ramonet Neus, López-Gastón Juan Ignacio, Cuadrado-Corrales Natividad, Calero Olga, Díaz-Hurtado Marcos, Ipiens José Ramón, Ramón y Cajal Santiago, de Pedro-Cuesta Jesús, Calero Miguel
Abstract excerpt
Genetic human prion diseases are autosomal dominant disorders associated with different mutations in the PRNP gene that are manifested as distinct clinical phenotypes. Here, we report a new pathogenic missense mutation (c.[643A>G], p.[I215V]) in the PRNP gene associated with three pathologically confirmed cases: two of Creutzfeldt-Jakob disease (CJD) and one of Alzheimer's disease (AD) in two different families...
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