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

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• 作者：Imelda S. Barber^a ; ^{imelda.barber@psych.ox.ac.uk} ; Anne Braae^a ; Naomi Clement^a ; Tulsi Patel^a ; Tamar Guetta-Baranes^a ; Keeley Brookes^a ; Christopher Medway^a ; Sally Chappell^a ; Rita Guerreiro^b ; Jose Bras^b ; Dena Hernandez^c ; Andrew Singleton^c ; John Hardy^b ; David M. Mann^d ; ARUK Consortium¹ ; Peter Passmore ; David Craig ; Janet Johnston ; Bernadette McGuinness ; Stephen Todd ; Reinhard Heun ; Heike Kö ; lsch ; 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
• 关键词：Alzheimer's disease ; Parkinson's disease ; Sporadic ; Early-onset ; NeuroX ; Screening
• 刊名：Neurobiology of Aging
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：49
• 期：Complete
• 页码：215.e1-215.e8
• 全文大小：1172 K
• 卷排序：49

文摘

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.