Analysis of LRRK2 functional domains in nondominant Parkinson disease

L. Skipper; H. Shen; E. Chua; C. Bonnard; P. 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

doi:10.1212/01.wnl.0000180517.70572.37

Analysis of LRRK2 functional domains in nondominant Parkinson disease

L. Skipper, H. Shen, E. Chua, C. Bonnard, P. 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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

75 Citations (Scopus)

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 language	English
Pages (from-to)	1319-1321
Number of pages	3
Journal	Neurology
Volume	65
Issue number	8
DOIs	https://doi.org/10.1212/01.wnl.0000180517.70572.37
Publication status	Published - 25 Oct 2005
Externally published	Yes

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title = "Analysis of LRRK2 functional domains in nondominant Parkinson disease",

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.",

author = "L. Skipper and H. Shen and E. Chua and C. Bonnard and P. Kolatkar and Tan, \{L. C.S.\} and Jamora, \{R. D.\} and K. Puvan and Puong, \{K. Y.\} and Y. Zhao and R. Pavanni and Wong, \{M. C.\} and Y. Yuen and M. Farrer and Liu, \{J. J.\} and Tan, \{E. K.\}",

year = "2005",

month = oct,

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doi = "10.1212/01.wnl.0000180517.70572.37",

language = "English",

volume = "65",

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TY - JOUR

T1 - Analysis of LRRK2 functional domains in nondominant Parkinson disease

AU - Skipper, L.

AU - Shen, H.

AU - Chua, E.

AU - Bonnard, C.

AU - Kolatkar, P.

AU - Tan, L. C.S.

AU - Jamora, R. D.

AU - Puvan, K.

AU - Puong, K. Y.

AU - Zhao, Y.

AU - Pavanni, R.

AU - Wong, M. C.

AU - Yuen, Y.

AU - Farrer, M.

AU - Liu, J. J.

AU - Tan, E. K.

PY - 2005/10/25

Y1 - 2005/10/25

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/27144517403

U2 - 10.1212/01.wnl.0000180517.70572.37

DO - 10.1212/01.wnl.0000180517.70572.37

M3 - Article

C2 - 16247070

AN - SCOPUS:27144517403

SN - 0028-3878

VL - 65

SP - 1319

EP - 1321

JO - Neurology

JF - Neurology

IS - 8

ER -

Analysis of LRRK2 functional domains in nondominant Parkinson disease

Abstract

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