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Analysis of LRRK2 functional domains in nondominant Parkinson disease

From the Department of Population Genetics, Genome Institute of Singapore (Drs. Skipper, Bonnard, Kolatkar, and Liu); Department of Neurology, Singapore General Hospital (Drs. Shen, Zhao, Yuen, and E. Tan, E. Chua, K.Y. Puong); Division of Research, SingHealth (Drs. Shen and E. Tan, E. Chua); National Neuroscience Institute (Drs. L. Tan, Jamora, Puvan, Pavanni, Wong, and E. Tan), Singapore; and the Department of Neuroscience (Dr. Farrer) Mayo Clinic, Jacksonville, FL.

Address correspondence and reprint requests to Dr Tan, Department of Neurology, Singapore General Hospital, Outram Road, Singapore 169608; e-mail: gnrtek{at}sgh.com.sg

A comprehensive sequence analysis of 29 exons that code for the functional domains of LRRK2 in 160 nondominant Parkinson disease (PD) patients was performed. Novel variant screening in a further 470 sporadic PD patients and 630 controls revealed two novel variants (R1067Q and IVS33 + 6 T>A), which are likely to be pathogenic in five patients. One patient presented initially with a typical essential tremor phenotype, expanding the phenotypic spectrum of LRRK2 mutations.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the October 25 issue to find the title link for this article.

Supported by grants from NMRC, BMRC, SingHealth and GIS, Singapore.

Disclosure: The authors report no conflicts of interest.

Received April 27, 2005. Accepted in final form July 8, 2005.

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