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Neurological Review
September 2006

Genetic Testing in Parkinson Disease: Promises and Pitfalls

Author Affiliations

Author Affiliations: Department of Neurology, Singapore General Hospital (Dr Tan); National Neuroscience Institute, Singapore (Dr Tan); and Department of Neurology, Baylor College of Medicine, Houston, Tex (Dr Jankovic).



Arch Neurol. 2006;63(9):1232-1237. doi:10.1001/archneur.63.9.1232

Parkinson disease (PD) is the second most common neurodegenerative disease. The recent discoveries of a number of disease-causing genes (such as α-synuclein, parkin, UCHL1, PINK1, DJ-1, LRRK2) in PD have generated considerable interest and debate for both physicians and patients regarding diagnostic and presymptomatic genetic testing of PD in the clinic. Of particular significance are reports of a common G2019S mutation of the LRRK2 gene as a cause of familial and sporadic PD across different populations worldwide. This is the first time a common gene mutation has been reported in such an extensive manner across races. However, the feasibility of diagnostic and predictive testing of PD is still beset with many unanswered questions. We discuss the promises and limitations of genetic testing in PD and suggest that many more scientific studies are required before any meaningful guidelines and recommendations for genetic testing in PD can be formulated and broadly implemented.