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Medientyp:
E-Artikel
Titel:
Molecular genetics of early‐onset Alzheimer's disease revisited
Beteiligte:
Cacace, Rita;
Sleegers, Kristel;
Van Broeckhoven, Christine
Erschienen:
Wiley, 2016
Erschienen in:Alzheimer's & Dementia
Sprache:
Englisch
DOI:
10.1016/j.jalz.2016.01.012
ISSN:
1552-5260;
1552-5279
Entstehung:
Anmerkungen:
Beschreibung:
<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>