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

76 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,

day = "25",

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

language = "English",

volume = "65",

pages = "1319--1321",

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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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