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

Guerreiro, R; Brás, J; Wojtas, A; Rademakers, R; Hardy, J; Graff-Radford, N; (2014) A nonsense mutation in PRNP associated with clinical Alzheimer's disease. Neurobiol Aging , 35 (11) 2656.e13-2656.e16. 10.1016/j.neurobiolaging.2014.05.013. Green open access

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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.

Type: Article
Title: A nonsense mutation in PRNP associated with clinical Alzheimer's disease.
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.neurobiolaging.2014.05.013
Publisher version: http://dx.doi.org/10.1016/j.neurobiolaging.2014.05...
Language: English
Additional information: © 2014 The Authors. Published by Elsevier Inc.This is an open access article under the CC BY license (http:// creativecommons.org/licenses/by/3.0/).
Keywords: Alzheimer's disease, Exome sequencing, Nonsense mutation, PRNP, Prion
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1433423
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