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

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array
Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array
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 2 sEOAD individuals harboring a known causative variant in PARK2 known to cause early-onset Parkinson's disease; p.T240M (n = 1) and p.Q34fs delAG (n = 1). In addition, we identified 3 sEOAD individuals harboring 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
215.e1
Barber, Imelda
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Braae, Anne
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Clement, Naomi
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Patel, Tulsi
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Guetta-Baranes, Tamar
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Brookes, Keeley
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Medway, Christopher
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Chappell, Sally
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Guerreiro, Rita
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Bras, Jose
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Hernandez, Dena
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Singleton, Andrew
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Hardy, John
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Mann, David
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Holmes, Clive
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ARUK Consortium
Barber, Imelda
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Braae, Anne
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Clement, Naomi
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Patel, Tulsi
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Guetta-Baranes, Tamar
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Brookes, Keeley
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Medway, Christopher
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Chappell, Sally
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Guerreiro, Rita
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Bras, Jose
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Hernandez, Dena
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Singleton, Andrew
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Hardy, John
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Mann, David
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Holmes, Clive
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Barber, Imelda, 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 and Holmes, Clive , ARUK Consortium (2017) Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array. Neurobiology of Aging, 49, 215.e1. (doi:10.1016/j.neurobiolaging.2016.09.008).

Record type: Article

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 2 sEOAD individuals harboring a known causative variant in PARK2 known to cause early-onset Parkinson's disease; p.T240M (n = 1) and p.Q34fs delAG (n = 1). In addition, we identified 3 sEOAD individuals harboring 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

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Accepted/In Press date: 16 September 2016
e-pub ahead of print date: 23 September 2016
Published date: 1 January 2017

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Local EPrints ID: 413554
URI: https://eprints.soton.ac.uk/id/eprint/413554
PURE UUID: 3c235a62-666b-4759-b684-5d504dfc8b62
ORCID for Clive Holmes: ORCID iD orcid.org/0000-0003-1999-6912

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Date deposited: 25 Aug 2017 16:31
Last modified: 19 Jul 2019 01:06

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Contributors

Author: Imelda Barber
Author: Anne Braae
Author: Naomi Clement
Author: Tulsi Patel
Author: Tamar Guetta-Baranes
Author: Keeley Brookes
Author: Christopher Medway
Author: Sally Chappell
Author: Rita Guerreiro
Author: Jose Bras
Author: Dena Hernandez
Author: Andrew Singleton
Author: John Hardy
Author: David Mann
Author: Clive Holmes ORCID iD

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