Project supported by funds from the MK Humanitarian Fund, National Parkinson Foundation (Miami, USA), Tel-Aviv Sourasky Medical Center Grant of Excellence, and the Wolfson Foundation.
Advances in the genetics of Parkinson's disease1
Article first published online: 3 JAN 2008
Acta Pharmacologica Sinica
Volume 29, Issue 1, pages 21–34, January 2008
How to Cite
ROSNER, S., GILADI, N. and ORR-URTREGER, A. (2008), Advances in the genetics of Parkinson's disease. Acta Pharmacologica Sinica, 29: 21–34. doi: 10.1111/j.1745-7254.2008.00731.x
- Issue published online: 3 JAN 2008
- Article first published online: 3 JAN 2008
- Received 2007-04-01Accepted 2007-09-06
- Parkinson's disease;
- genetic background;
- leucine-rich repeat kinase 2 gene
Parkinson's disease (PD) is a neurodegenerative disorder affecting a significant proportion of the ageing population. The etiology is unknown and it is likely due to a multifactorial interaction of genes and the environment on the background of ageing. Findings in the last decade suggest that the contribution of genetics to familial forms of PD is much greater than previously appreciated. Twelve loci are now associated with highly penetrant autosomal dominant or recessive PD, and causative mutations have been identified in eight genes with mutation carriers often characterized by a phenotype indistinguishable from idiopathic disease. To date, PD pharmacotherapy is symptomatic only and does not slow disease progression. Understanding how genetic mutations cause familial PD is likely to clarify molecular mechanisms underlying PD in general and will provide a guide for the development of novel therapies, both preventative and palliative, applicable to all forms of parkinsonism. This review outlines the advances in the study of the genetic background of PD and their possible clinical implications.