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 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 K Wilcock, Donald Warden, Clive Holmes, Kevin Morgan

Research output: Contribution to journalArticle (Academic Journal)peer-review

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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.
Original languageEnglish
Pages (from-to)215.e1-215.e8
Number of pages8
JournalNeurobiology of Aging
Volume49
Early online date23 Sep 2016
DOIs
Publication statusPublished - Jan 2017

Keywords

  • Alzheimer’s disease
  • Parkinson’s disease
  • sporadic
  • early-onset
  • NeuroX
  • screening

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