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

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 B Singleton; John Hardy; David M. Mann; Peter Passmore; David Craig; Janet Johnston; Bernadette McGuinness; Stephen Todd; Reinhard Heun; Heike Kölsch; Patrick G Kehoe; Emma R L C Vardy; Nigel M Hooper; Stuart Pickering-Brown; Julie Snowden; Anna Richardson; Matthew Jones; David Neary; Jennifer Harris; James Lowe; A David Smith; Gordon Wilcock; Donald Warden; Clive Holmes; Kevin Morgan

doi:10.1016/j.neurobiolaging.2016.09.008

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

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 B Singleton, John Hardy, David M. Mann, Peter Passmore, David Craig, Janet Johnston, Bernadette McGuinness, Stephen Todd, Reinhard HeunHeike Kölsch, Patrick G Kehoe, Emma R L C Vardy, Nigel M Hooper, Stuart Pickering-Brown, Julie Snowden, Anna Richardson, Matthew Jones, David Neary, Jennifer Harris, James Lowe, A David Smith, Gordon Wilcock, Donald Warden, Clive Holmes, Kevin Morgan

^*Corresponding author for this work

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

23 Citations (Scopus)

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.

Original language	English
Pages (from-to)	215.e1-215.e8
Journal	Neurobiology of Aging
Volume	49
Early online date	23 Sept 2016
DOIs	https://doi.org/10.1016/j.neurobiolaging.2016.09.008
Publication status	Published - 01 Jan 2017

Keywords

Alzheimer's disease
Early-onset
NeuroX
Parkinson's disease
Screening
Sporadic

ASJC Scopus subject areas

General Neuroscience
Ageing
Developmental Biology
Geriatrics and Gerontology
Clinical Neurology

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10.1016/j.neurobiolaging.2016.09.008Licence: Unspecified

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Barber, I. S., Braae, A., Clement, N., Patel, T., Guetta-Baranes, T., Brookes, K., Medway, C., Chappell, S., Guerreiro, R., Bras, J., Hernandez, D., Singleton, A. B., Hardy, J., Mann, D. M., Passmore, P., Craig, D., Johnston, J., McGuinness, B., Todd, S., ... Morgan, K. (2017). Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array. Neurobiology of Aging, 49, 215.e1-215.e8. https://doi.org/10.1016/j.neurobiolaging.2016.09.008

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title = "Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array",

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.",

keywords = "Alzheimer's disease, Early-onset, NeuroX, Parkinson's disease, Screening, Sporadic",

author = "Barber, {Imelda S.} and Anne Braae and Naomi Clement and Tulsi Patel and Tamar Guetta-Baranes and Keeley Brookes and Christopher Medway and Sally Chappell and Rita Guerreiro and Jose Bras and Dena Hernandez and Singleton, {Andrew B} and John Hardy and Mann, {David M.} and Peter Passmore and David Craig and Janet Johnston and Bernadette McGuinness and Stephen Todd and Reinhard Heun and Heike K{\"o}lsch and Kehoe, {Patrick G} and Vardy, {Emma R L C} and Hooper, {Nigel M} and Stuart Pickering-Brown and Julie Snowden and Anna Richardson and Matthew Jones and David Neary and Jennifer Harris and James Lowe and Smith, {A David} and Gordon Wilcock and Donald Warden and Clive Holmes and Kevin Morgan",

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doi = "10.1016/j.neurobiolaging.2016.09.008",

language = "English",

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journal = "Neurobiology of Aging",

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Barber, IS, Braae, A, Clement, N, Patel, T, Guetta-Baranes, T, Brookes, K, Medway, C, Chappell, S, Guerreiro, R, Bras, J, Hernandez, D, Singleton, AB, Hardy, J, Mann, DM, Passmore, P, Craig, D, Johnston, J, McGuinness, B, Todd, S, Heun, R, Kölsch, H, Kehoe, PG, Vardy, ERLC, Hooper, NM, Pickering-Brown, S, Snowden, J, Richardson, A, Jones, M, Neary, D, Harris, J, Lowe, J, Smith, AD, Wilcock, G, Warden, D, Holmes, C & Morgan, K 2017, 'Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array', Neurobiology of Aging, vol. 49, pp. 215.e1-215.e8. https://doi.org/10.1016/j.neurobiolaging.2016.09.008

TY - JOUR

T1 - Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array

AU - Barber, Imelda S.

AU - Braae, Anne

AU - Clement, Naomi

AU - Patel, Tulsi

AU - Guetta-Baranes, Tamar

AU - Brookes, Keeley

AU - Medway, Christopher

AU - Chappell, Sally

AU - Guerreiro, Rita

AU - Bras, Jose

AU - Hernandez, Dena

AU - Singleton, Andrew B

AU - Hardy, John

AU - Mann, David M.

AU - Passmore, Peter

AU - Craig, David

AU - Johnston, Janet

AU - McGuinness, Bernadette

AU - Todd, Stephen

AU - Heun, Reinhard

AU - Kölsch, Heike

AU - Kehoe, Patrick G

AU - Vardy, Emma R L C

AU - Hooper, Nigel M

AU - Pickering-Brown, Stuart

AU - Snowden, Julie

AU - Richardson, Anna

AU - Jones, Matthew

AU - Neary, David

AU - Harris, Jennifer

AU - Lowe, James

AU - Smith, A David

AU - Wilcock, Gordon

AU - Warden, Donald

AU - Holmes, Clive

AU - Morgan, Kevin

PY - 2017/1/1

Y1 - 2017/1/1

N2 - 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.

AB - 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.

KW - Alzheimer's disease

KW - Early-onset

KW - NeuroX

KW - Parkinson's disease

KW - Screening

KW - Sporadic

UR - http://www.scopus.com/inward/record.url?scp=85002261138&partnerID=8YFLogxK

U2 - 10.1016/j.neurobiolaging.2016.09.008

DO - 10.1016/j.neurobiolaging.2016.09.008

M3 - Article

AN - SCOPUS:85002261138

SN - 0197-4580

VL - 49

SP - 215.e1-215.e8

JO - Neurobiology of Aging

JF - Neurobiology of Aging

ER -

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

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Bernadette McGuinness

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

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Bernadette McGuinness

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