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Prog Brain Res. 2010;183:43-57. doi: 10.1016/S0079-6123(10)83003-1.

Unravelling the role of defective genes.

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Cell Biology and Gene Expression Unit, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA.


Several genes that cause familial forms of Parkinson's disease (PD) or similar disorders have been found in recent years. The aim of this review is to cover two broad aspects of the logic of genetics. The first aspect is the recognition that PD can have a genetic basis, either for Mendelian families where genes can be identified because mutations segregate with disease or in populations where more common variants are associated with disease. There are several causal genes for both dominant and recessive forms of parkinsonism, some of which overlap with sporadic PD and some of which have more complex phenotypes. Several of the dominant loci have also been reliably identified as risk factors for sporadic PD. The second topic is how the study of multiple mutations in any given gene can help understand the role that the protein under investigation plays in PD. Examples will be given of both recessive and dominant genes for parkinsonism, showing how the analysis of multiple gene mutations can be a powerful approach for dissecting out which function(s) are important for the disease process.

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