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

Rita Guerreiro; José Brás; Aleksandra Wojtas; Rosa Rademakers; John Hardy; Neill Graff-Radford

doi:10.1016/j.neurobiolaging.2014.05.013

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

Rita Guerreiro, José Brás, Aleksandra Wojtas, Rosa Rademakers, John Hardy, Neill Graff-Radford

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

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.

Original language	English (US)
Pages (from-to)	2656.e13-2656.e16
Journal	Neurobiology of aging
Volume	35
Issue number	11
DOIs	https://doi.org/10.1016/j.neurobiolaging.2014.05.013
State	Published - Nov 1 2014

Keywords

Alzheimer's disease
Exome sequencing
Nonsense mutation
PRNP
Prion

ASJC Scopus subject areas

General Neuroscience
Aging
Clinical Neurology
Developmental Biology
Geriatrics and Gerontology

Access to Document

10.1016/j.neurobiolaging.2014.05.013

Cite this

@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 = "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",

}

TY - JOUR

T1 - A nonsense mutation in PRNP associated with clinical Alzheimer's disease

AU - Guerreiro, Rita

AU - Brás, José

AU - Wojtas, Aleksandra

AU - Rademakers, Rosa

AU - Hardy, John

AU - Graff-Radford, Neill

PY - 2014/11/1

Y1 - 2014/11/1

N2 - 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.

AB - 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.

KW - Alzheimer's disease

KW - Exome sequencing

KW - Nonsense mutation

KW - PRNP

KW - Prion

UR - http://www.scopus.com/inward/record.url?scp=84922916943&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84922916943&partnerID=8YFLogxK

U2 - 10.1016/j.neurobiolaging.2014.05.013

DO - 10.1016/j.neurobiolaging.2014.05.013

M3 - Article

C2 - 24958194

AN - SCOPUS:84922916943

SN - 0197-4580

VL - 35

SP - 2656.e13-2656.e16

JO - Neurobiology of aging

JF - Neurobiology of aging

IS - 11

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this