eprintid: 1431635
rev_number: 34
eprint_status: archive
userid: 608
dir: disk0/01/43/16/35
datestamp: 2014-06-06 19:21:47
lastmod: 2021-09-19 23:34:40
status_changed: 2014-06-06 19:21:47
type: article
metadata_visibility: show
item_issues_count: 0
creators_name: Sassi, C
creators_name: Guerreiro, R
creators_name: Gibbs, R
creators_name: Ding, J
creators_name: Lupton, MK
creators_name: Troakes, C
creators_name: Lunnon, K
creators_name: Al-Sarraj, S
creators_name: Brown, KS
creators_name: Medway, C
creators_name: Lord, J
creators_name: Turton, J
creators_name: Mann, D
creators_name: Snowden, J
creators_name: Neary, D
creators_name: Harris, J
creators_name: Bras, J
creators_name: ARUK Consortium, -
creators_name: Morgan, K
creators_name: Powell, JF
creators_name: Singleton, A
creators_name: Hardy, J
title: Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.
ispublished: pub
divisions: UCL
divisions: B02
divisions: C07
divisions: D07
divisions: F86
keywords: APP, British cohort, Early-onset Alzheimer's disease, PSEN1, PSEN2
note: This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/3.0/). Copyright © 2014 The Authors. Published by Elsevier Inc.
abstract: Early-onset Alzheimer's disease (EOAD) represents 1%-2% of the Alzheimer's disease (AD) cases, and it is generally characterized by a positive family history and a rapidly progressive symptomatology. Rare coding and fully penetrant variants in amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are the only causative mutations reported for autosomal dominant AD. Thus, in this study we used exome sequencing data to rapidly screen rare coding variability in APP, PSEN1, and PSEN2, in a British cohort composed of 47 unrelated EOAD cases and 179 elderly controls, neuropathologically proven. We report 2 novel and likely pathogenic variants in PSEN1 (p.L166V and p.S230R). A comprehensive catalog of rare pathogenic variants in the AD Mendelian genes is pivotal for a premortem diagnosis of autosomal dominant EOAD and for the differential diagnosis with other early onset dementias such as frontotemporal dementia (FTD) and Creutzfeldt-Jakob disease (CJD).
date: 2014-05-02
official_url: http://dx.doi.org/10.1016/j.neurobiolaging.2014.04.026
vfaculties: VFBRS
oa_status: green
full_text_type: pub
language: eng
primo: open
primo_central: open_green
article_type_text: JOURNAL ARTICLE
verified: verified_manual
elements_source: PubMed
elements_id: 950449
doi: 10.1016/j.neurobiolaging.2014.04.026
pii: S0197-4580(14)00328-5
lyricists_name: Hardy, John
lyricists_name: Louro Guerreiro, Rita
lyricists_name: Sassi, Celeste
lyricists_name: Smalley, June
lyricists_name: Tomas Bras, Jose
lyricists_id: JHARD28
lyricists_id: RJLOU51
lyricists_id: CSASS81
lyricists_id: JASMA87
lyricists_id: JMTOM86
full_text_status: public
publication: Neurobiol Aging
volume: 35
number: 10
pagerange: 2422.e13-2422.e16
citation:        Sassi, C;    Guerreiro, R;    Gibbs, R;    Ding, J;    Lupton, MK;    Troakes, C;    Lunnon, K;                                                             ... Hardy, J; + view all <#>        Sassi, C;  Guerreiro, R;  Gibbs, R;  Ding, J;  Lupton, MK;  Troakes, C;  Lunnon, K;  Al-Sarraj, S;  Brown, KS;  Medway, C;  Lord, J;  Turton, J;  Mann, D;  Snowden, J;  Neary, D;  Harris, J;  Bras, J;  ARUK Consortium, -;  Morgan, K;  Powell, JF;  Singleton, A;  Hardy, J;   - view fewer <#>    (2014)    Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.                   Neurobiol Aging , 35  (10)   2422.e13-2422.e16.    10.1016/j.neurobiolaging.2014.04.026 <https://doi.org/10.1016/j.neurobiolaging.2014.04.026>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/1431635/1/1-s2.0-S0197458014003285-main.pdf