Analysis of LRRK2 functional domains in nondominant Parkinson disease

L. Skipper, H. Shen, E. Chua, C. Bonnard, Prasanna Kolatkar, L. C S Tan, R. D. Jamora, K. Puvan, K. Y. Puong, Y. Zhao, R. Pavanni, M. C. Wong, Y. Yuen, M. Farrer, J. J. Liu, E. K. Tan

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Abstract

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.

Original languageEnglish
Pages (from-to)1319-1321
Number of pages3
JournalNeurology
Volume65
Issue number8
DOIs
Publication statusPublished - 25 Oct 2005
Externally publishedYes

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ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Skipper, L., Shen, H., Chua, E., Bonnard, C., Kolatkar, P., Tan, L. C. S., Jamora, R. D., Puvan, K., Puong, K. Y., Zhao, Y., Pavanni, R., Wong, M. C., Yuen, Y., Farrer, M., Liu, J. J., & Tan, E. K. (2005). Analysis of LRRK2 functional domains in nondominant Parkinson disease. Neurology, 65(8), 1319-1321. https://doi.org/10.1212/01.wnl.0000180517.70572.37