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

作者：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

来源：Neurobiology of Aging, 2017, 49: 215.e1.

DOI：10.1016/j.neurobiolaging.2016.09.008

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

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.

• 出版日期2017-1
• 单位NIH