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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

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
Publication Date Jan 31, 2017
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
APA6 Citation Barber, I. S., Braae, A., Clement, N., Patel, T., Guetta-Baranes, T., Brookes, K., …Morgan, K. (2017). Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array. Neurobiology of Aging, 49, doi:10.1016/j.neurobiolaging.2016.09.008
DOI https://doi.org/10.1016/j.neurobiolaging.2016.09.008
Keywords Alzheimer's Disease, Parkinson's Disease, Sporadic, Early-onset, NeuroX, Screening
Publisher URL http://www.sciencedirect.com/science/article/pii/S0197458016302214
Copyright Statement Copyright information regarding this work can be found at the following address: http://creativecommons.org/licenses/by-nc-nd/4.0

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Copyright Statement
Copyright information regarding this work can be found at the following address: http://creativecommons.org/licenses/by-nc-nd/4.0



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