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Promises and Pitfalls

Eng-King Tan, MD; Joseph Jankovic, MD

Arch Neurol. 2006;63:1232-1237.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

INTRODUCTION

Parkinson disease (PD) is the second most common neurodegenerative disease. The recent discoveries of a number of disease-causing genes (such as -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 . . . [Full Text of this Article]

AGE-OLD DEBATE ON THE GENE-ENVIRONMENT ETIOLOGY

POPULATION GENETIC STUDIES IN SPORADIC PD

DISCOVERY OF DISEASE-CAUSING GENES IN FAMILIAL PD

GENETIC TESTING IN PD

HOW COMMON ARE DISEASE-CAUSING MUTATIONS?

CAN GENETIC FORMS OF PD BE DIFFERENTIATED FROM IDIOPATHIC FORMS?

PROBLEMS WITH INTERPRETATION OF RESULTS

HETEROZYGOUS MUTATIONS

VARIED EXPRESSION OF MUTATIONS

COMMON MUTATIONS AND VARIED PENETRANCE

PATHOGENIC/PUTATIVE MUTATION OR COMMON POLYMORPHIC VARIANT

WHO SHOULD UNDERGO GENETIC TESTING?

SHOULD TESTING BE DONE IN A RESEARCH OR CLINICAL SETTING?

CONCLUSIONS

AUTHOR INFORMATION

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).

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ABSTRACT | FULL TEXT