@article{4e0494a45ff14b81a0b82903addc2a13,
title = "A nonsense mutation in PRNP associated with clinical Alzheimer's disease",
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.",
keywords = "Alzheimer's disease, Exome sequencing, Nonsense mutation, PRNP, Prion",
author = "Rita Guerreiro and Jos{\'e} Br{\'a}s and Aleksandra Wojtas and Rosa Rademakers and John Hardy and Neill Graff-Radford",
note = "Funding Information: This work was supported by the Alzheimer{\textquoteright}s Research UK and by an anonymous donor. It was also supported in part by the Wellcome Trust and/or MRC Joint Call in Neurodegeneration award (WT089698) to the UK Parkinson's Disease Consortium whose members are from the University College London/Institute of Neurology, the University of Sheffield, and the MRC Protein Phosphorylation Unit at the University of Dundee, the National Institutes of Health / National Institute on Aging P50-AG016574 grant and by a fellowship from Alzheimer's Research UK to Dr Guerreiro. Publisher Copyright: {\textcopyright} 2014 The Authors.",
year = "2014",
month = nov,
day = "1",
doi = "10.1016/j.neurobiolaging.2014.05.013",
language = "English (US)",
volume = "35",
pages = "2656.e13--2656.e16",
journal = "Neurobiology of Aging",
issn = "0197-4580",
publisher = "Elsevier Inc.",
number = "11",
}