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Media type:
E-Article
Title:
Molecular genetics of early‐onset Alzheimer's disease revisited
Contributor:
Cacace, Rita;
Sleegers, Kristel;
Van Broeckhoven, Christine
imprint:
Wiley, 2016
Published in:Alzheimer's & Dementia
Language:
English
DOI:
10.1016/j.jalz.2016.01.012
ISSN:
1552-5260;
1552-5279
Origination:
Footnote:
Description:
<jats:title>Abstract</jats:title><jats:sec><jats:label /><jats:p>As the discovery of the Alzheimer's disease (AD) genes, <jats:italic>APP</jats:italic>, <jats:italic>PSEN1</jats:italic>, and <jats:italic>PSEN2</jats:italic>, in families with autosomal dominant early‐onset AD (EOAD), gene discovery in familial EOAD came more or less to a standstill. Only 5% of EOAD patients are carrying a pathogenic mutation in one of the AD genes or a apolipoprotein E (<jats:italic>APOE</jats:italic>) risk allele ε4, most of EOAD patients remain unexplained. Here, we aimed at summarizing the current knowledge of EOAD genetics and its role in ongoing approaches to understand the biology of AD and disease symptomatology as well as developing new therapeutics. Next, we explored the possible molecular mechanisms that might underlie the missing genetic etiology of EOAD and discussed how the use of massive parallel sequencing technologies triggered novel gene discoveries. To conclude, we commented on the relevance of reinvestigating EOAD patients as a means to explore potential new avenues for translational research and therapeutic discoveries.</jats:p></jats:sec>