The clinical utility of gene testing for Alzheimer’s disease

Alzheimer’s disease (AD) is the largest cause of dementia, affecting 35.6 million people in 2010. Amyloid precursor protein, presenilin 1 and presenilin 2 mutations are known to cause familial early-onset AD, whereas apolipoprotein E (APOE) ε4 is a susceptibility gene for late-onset AD. The genes fo...

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Main Authors: Emily R. Atkins, Peter K. Panegyres
Format: Article
Language:English
Published: MDPI AG 2011-04-01
Series:Neurology International
Subjects:
Online Access:http://www.pagepress.org/journals/index.php/ni/article/view/2140
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author Emily R. Atkins
Peter K. Panegyres
author_facet Emily R. Atkins
Peter K. Panegyres
author_sort Emily R. Atkins
collection DOAJ
description Alzheimer’s disease (AD) is the largest cause of dementia, affecting 35.6 million people in 2010. Amyloid precursor protein, presenilin 1 and presenilin 2 mutations are known to cause familial early-onset AD, whereas apolipoprotein E (APOE) ε4 is a susceptibility gene for late-onset AD. The genes for phosphatidylinositol- binding clathrin assembly protein, clusterin and complement receptor 1 have recently been described by genome-wide association studies as potential risk factors for lateonset AD. Also, a genome association study using single neucleotide polymorphisms has identified an association of neuronal sortilin related receptor and late-onset AD. Gene testing, and also predictive gene testing, may be of benefit in suspected familial early-onset AD however it adds little to the diagnosis of lateonset AD and does not alter the treatment. We do not recommend APOE ε4 genotyping.
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spelling doaj.art-d2c626a02bc9435a8811225a8609eb432023-08-02T03:15:23ZengMDPI AGNeurology International2035-83852035-83772011-04-0131e1e110.4081/ni.2011.e11432The clinical utility of gene testing for Alzheimer’s diseaseEmily R. Atkins0Peter K. Panegyres1Neurodegenerative Disorders Research Pty LtdNeurodegenerative Disorders Research Pty LtdAlzheimer’s disease (AD) is the largest cause of dementia, affecting 35.6 million people in 2010. Amyloid precursor protein, presenilin 1 and presenilin 2 mutations are known to cause familial early-onset AD, whereas apolipoprotein E (APOE) ε4 is a susceptibility gene for late-onset AD. The genes for phosphatidylinositol- binding clathrin assembly protein, clusterin and complement receptor 1 have recently been described by genome-wide association studies as potential risk factors for lateonset AD. Also, a genome association study using single neucleotide polymorphisms has identified an association of neuronal sortilin related receptor and late-onset AD. Gene testing, and also predictive gene testing, may be of benefit in suspected familial early-onset AD however it adds little to the diagnosis of lateonset AD and does not alter the treatment. We do not recommend APOE ε4 genotyping.http://www.pagepress.org/journals/index.php/ni/article/view/2140Neurology, Alzheimer's disease, gene testing
spellingShingle Emily R. Atkins
Peter K. Panegyres
The clinical utility of gene testing for Alzheimer’s disease
Neurology International
Neurology, Alzheimer's disease, gene testing
title The clinical utility of gene testing for Alzheimer’s disease
title_full The clinical utility of gene testing for Alzheimer’s disease
title_fullStr The clinical utility of gene testing for Alzheimer’s disease
title_full_unstemmed The clinical utility of gene testing for Alzheimer’s disease
title_short The clinical utility of gene testing for Alzheimer’s disease
title_sort clinical utility of gene testing for alzheimer s disease
topic Neurology, Alzheimer's disease, gene testing
url http://www.pagepress.org/journals/index.php/ni/article/view/2140
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