Dataset Information

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.

SUBMITTER: Barber IS

PROVIDER: S-EPMC5995152 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature

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

Barber Imelda S IS Braae Anne A Clement Naomi N Patel Tulsi T Guetta-Baranes Tamar T Brookes Keeley K Medway Christopher C Chappell Sally S Guerreiro Rita R Bras Jose J Hernandez Dena D Singleton Andrew A Hardy John J Mann David M DM Morgan Kevin K

Neurobiology of aging 20160923

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 ...[more]

PMID: 27776828

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Dataset Information

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

Publications

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

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