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Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array

Barber, Imelda S.; Braae, Anne; Clement, Naomi; Patel, Tulsi; Guetta-Baranes, Tamar; Brookes, Keeley; Medway, Christopher; Chappell, Sally; Guerreiro, Rita; Bras, Jose; Hernandez, Dena; Singleton, Andrew; Hardy, John; Mann, David M.; Morgan, Kevin

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array Thumbnail


Authors

Imelda S. Barber

Anne Braae

Naomi Clement

Tulsi Patel

Tamar Guetta-Baranes

Keeley Brookes

Christopher Medway

Sally Chappell

Rita Guerreiro

Jose Bras

Dena Hernandez

Andrew Singleton

John Hardy

David M. Mann

Kevin Morgan



Abstract

We have screened sporadic early-onset Alzheimer’s disease (sEOAD, n=408) samples using the NeuroX array for known causative and predicted pathogenic variants in 16 genes linked to familial forms of neurodegeneration. We found two sEOAD individuals harbouring a known causative variant in PARK2 known to cause early-onset Parkinson’s disease (EOPD); p.T240M (n=1) and p.Q34fs delAG (n=1). Additionally, we identified three sEOAD individuals harbouring a predicted pathogenic variant in MAPT (p.A469T) which has previously been associated with AD. It is currently unknown if these variants affect susceptibility to sEOAD, further studies would be needed to establish this. This work highlights the need to screen sEOAD individuals for variants that are more classically attributed to other forms of neurodegeneration.

Journal Article Type Article
Acceptance Date Sep 16, 2016
Online Publication Date Sep 23, 2016
Publication Date Jan 31, 2017
Deposit Date Sep 19, 2016
Publicly Available Date Sep 23, 2016
Journal Neurobiology of Aging
Print ISSN 0197-4580
Electronic ISSN 1558-1497
Publisher Elsevier
Peer Reviewed Peer Reviewed
Volume 49
Article Number 215.e1-215.e8
DOI https://doi.org/10.1016/j.neurobiolaging.2016.09.008
Keywords Alzheimer's Disease, Parkinson's Disease, Sporadic, Early-onset, NeuroX, Screening
Public URL https://nottingham-repository.worktribe.com/output/838069
Publisher URL http://www.sciencedirect.com/science/article/pii/S0197458016302214

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