Affiliations: Department of Molecular Genetics, Neurodegenerative Brain Diseases Research Group, Flanders Interuniversity Institute for Biotechnology, Institute Born-Bunge and University of Antwerp, Antwerpen, Belgium
Correspondence:
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Corresponding author: Prof.Dr. Christine Van Broeckhoven PhD DSc, VIB8 Department of Molecular Genetics, University of Antwerp – Campus CDE, Universiteitsplein 1, B-2610 Antwerpen, Belgium. Tel.: +32 3 265 1001; Fax: +32 3 265 1012; E-mail: [email protected].
Abstract: Development of therapeutics begins with delineating the precise disease pathology along with a reasonable understanding of the sequence of events responsible for the development of disease, or disease pathogenesis. For Alzheimer's disease (AD), the classical pathology is now known for quite some time; however, the disease pathogenesis has eluded our understanding for a complete century. This review, in addition to providing a brief overview of all primary events, will highlight those aspects of AD genetics and novel pathological descriptions linked to unique mutations within AβPP that have led to our better understanding of the pathogenesis of AD. Specifically, we will discuss how pathologies linked to the Dutch (E693Q) and Flemish AβPP (A692G) mutations have helped in understanding the role of CAA in dementia and in the development of dense-core plaques. In addition, this review will also point directions that warrant additional studies.
