Mutation Analysis of Sporadic Early-onset Alzheimer's Disease Using the NeuroX Array

Overview

Journal Neurobiol Aging

Publisher Elsevier

Specialties Geriatrics
Neurology
Physiology

Date 2016 Oct 26

PMID 27776828

Citations 15

Authors

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

Kevin Morgan

Affiliations

Soon will be listed here.

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.

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