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Nat Rev Neurosci
Published

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.

Authors

Frances K Wiseman, Tamara Al-Janabi, John Hardy, Annette Karmiloff-Smith, Dean Nizetic, Victor L J Tybulewicz, Elizabeth M C Fisher, André Strydom

Abstract

Down syndrome, which arises in individuals carrying an extra copy of chromosome 21, is associated with a greatly increased risk of early-onset Alzheimer disease. It is thought that this risk is conferred by the presence of three copies of the gene encoding amyloid precursor protein (APP)--an Alzheimer disease risk factor--although the possession of extra copies of other chromosome 21 genes may also play a part. Further study of the mechanisms underlying the development of Alzheimer disease in people with Down syndrome could provide insights into the mechanisms that cause dementia in the general population.

PMID:26243569 | DOI:

UK DRI Authors

John Hardy

Prof Sir John Hardy

Group Leader

Harnessing genetics to build a better understanding of dementia

Prof Sir John Hardy