Dissecting the genetics of Alzheimer’s disease (AD) and Parkinson’s disease (PD) has contributed significantly to our understanding of the pathogenesis of neurodegeneration in these two complex disorders. For AD, three highly penetrant genes (APP, PSEN1 and PSEN2) and one susceptibility gene (APOE) have been identified. For PD, seven genes (SNCA, Parkin, UCHL1, NR4A2, DJ1, PINK1 and LRRK2) have been found. These genes explain only a small proportion of AD and PD patients and are mostly associated with an early onset presentation of the disease. APOE remains the only common gene, which increases the risk of both rare early and late onset AD. The ongoing challenge is to unravel the genetics of the most frequent forms of these complex disorders. In the present paper, we briefl y review the state of the art in the genetics of AD and PD. We also discuss the prospects of finding new genes associated with common forms of these diseases in light of two hypotheses concerning the genetic variation of complex diseases: common disease/ common variants and common disease/rare variants.

Additional Metadata
Keywords genetics
Promotor B.A. Oostra (Ben)
Publisher Erasmus University Rotterdam
Sponsor Duijn, Prof. Dr. C.M. van (promotor), Oostra, Prof. Dr. B.A. (promotor)
ISBN 978-90-8559-219-8
Persistent URL hdl.handle.net/1765/8014
Pardo Cortes, L.M. (2006, October 4). Genetic study of cognitive function. Erasmus University Rotterdam. Retrieved from http://hdl.handle.net/1765/8014