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

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*; rs8...

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Autores principales: Guerreiro, Rita, Brás, José, Wojtas, Aleksandra, Rademakers, Rosa, Hardy, John, Graff-Radford, Neill
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Genetic Report Abstract
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4175176/
https://www.ncbi.nlm.nih.gov/pubmed/24958194
http://dx.doi.org/10.1016/j.neurobiolaging.2014.05.013
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author Guerreiro, Rita
Brás, José
Wojtas, Aleksandra
Rademakers, Rosa
Hardy, John
Graff-Radford, Neill
author_facet Guerreiro, Rita
Brás, José
Wojtas, Aleksandra
Rademakers, Rosa
Hardy, John
Graff-Radford, Neill
author_sort Guerreiro, Rita
collection PubMed
description 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.
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spelling pubmed-41751762014-11-01 A nonsense mutation in PRNP associated with clinical Alzheimer's disease() Guerreiro, Rita Brás, José Wojtas, Aleksandra Rademakers, Rosa Hardy, John Graff-Radford, Neill Neurobiol Aging Genetic Report 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. Elsevier 2014-11 /pmc/articles/PMC4175176/ /pubmed/24958194 http://dx.doi.org/10.1016/j.neurobiolaging.2014.05.013 Text en © 2014 The Authors https://creativecommons.org/licenses/by/3.0/This work is licensed under a Creative Commons Attribution 3.0 Unported License (https://creativecommons.org/licenses/by/3.0/) .
spellingShingle Genetic Report Abstract
Guerreiro, Rita
Brás, José
Wojtas, Aleksandra
Rademakers, Rosa
Hardy, John
Graff-Radford, Neill
A nonsense mutation in PRNP associated with clinical Alzheimer's disease()
title A nonsense mutation in PRNP associated with clinical Alzheimer's disease()
title_full A nonsense mutation in PRNP associated with clinical Alzheimer's disease()
title_fullStr A nonsense mutation in PRNP associated with clinical Alzheimer's disease()
title_full_unstemmed A nonsense mutation in PRNP associated with clinical Alzheimer's disease()
title_short A nonsense mutation in PRNP associated with clinical Alzheimer's disease()
title_sort nonsense mutation in prnp associated with clinical alzheimer's disease()
topic Genetic Report Abstract
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4175176/
https://www.ncbi.nlm.nih.gov/pubmed/24958194
http://dx.doi.org/10.1016/j.neurobiolaging.2014.05.013
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