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Elsevier, Neurobiology of Aging, 11(35), p. 2656.e13-2656.e16, 2014

DOI: 10.1016/j.neurobiolaging.2014.05.013

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A nonsense mutation in PRNP associated with clinical Alzheimer's disease☆

Journal article published in 2014 by Rita Guerreiro ORCID, José Brás, Aleksandra Wojtas, Rosa Rademakers, John Hardy, Neill Graff-Radford
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Here, we describe a nonsense haplotype in PRNP associated with clinical Alzheimer's disease. The patient presented an early-onset of cognitive decline with memory loss as the primary cognitive problem. Whole-exome sequencing revealed a nonsense mutation in PRNP (NM_000311, c.C478T; p.Q160*; rs80356711) associated with homozygosity for the V allele at position 129 of the protein, further highlighting how very similar genotypes in PRNP result in strikingly different phenotypes.