The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor

Hao Deng; Weidong Le; Anthony L. Davidson; Wen Jie Xie; Joseph Jankovic

doi:10.1016/j.neulet.2006.08.012

The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor

Hao Deng, Weidong Le, Anthony L. Davidson, Wen Jie Xie, Joseph Jankovic

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

22 Scopus citations

Abstract

Several mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified both in familial and sporadic cases of Parkinson's disease (PD). G2019S, located at a kinase (MAPKKK) domain, is the most common mutation in the LRRK2 gene in PD, Two adjacent mutations (I2012T and I2020T) were mapped to the same domain suggesting shared pathogenic mechanism of these mutations. Since phenotypes of PD overlap with essential tremor (ET), we investigated LRRK2 G2019S, I2012T, and I2020T mutations in a cohort of 272 patients with ET. No mutations were found in our ET cohort and, therefore, we conclude that LRKK2 I2012T, G2019S and I2020T variants are rare causes of Caucasian ET.

Original language	English (US)
Pages (from-to)	97-100
Number of pages	4
Journal	Neuroscience Letters
Volume	407
Issue number	2
DOIs	https://doi.org/10.1016/j.neulet.2006.08.012
State	Published - Oct 23 2006

Keywords

Essential tremor
G2019S
I2012T
I2020T
LRRK2
Parkinson's disease

ASJC Scopus subject areas

Neuroscience(all)

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10.1016/j.neulet.2006.08.012

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@article{a9277c01cc9c46fe965e86e03e487b93,

title = "The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor",

abstract = "Several mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified both in familial and sporadic cases of Parkinson's disease (PD). G2019S, located at a kinase (MAPKKK) domain, is the most common mutation in the LRRK2 gene in PD, Two adjacent mutations (I2012T and I2020T) were mapped to the same domain suggesting shared pathogenic mechanism of these mutations. Since phenotypes of PD overlap with essential tremor (ET), we investigated LRRK2 G2019S, I2012T, and I2020T mutations in a cohort of 272 patients with ET. No mutations were found in our ET cohort and, therefore, we conclude that LRKK2 I2012T, G2019S and I2020T variants are rare causes of Caucasian ET.",

keywords = "Essential tremor, G2019S, I2012T, I2020T, LRRK2, Parkinson's disease",

author = "Hao Deng and Weidong Le and Davidson, {Anthony L.} and Xie, {Wen Jie} and Joseph Jankovic",

note = "Funding Information: Supported by grants NS 043567 from the National Institute of Neurological Disorders and Stroke and from the National Parkinson Foundation to the Baylor College of Medicine Center of Excellence. The authors thank the participating patients for their cooperation. Copyright: Copyright 2008 Elsevier B.V., All rights reserved.",

year = "2006",

month = oct,

day = "23",

doi = "10.1016/j.neulet.2006.08.012",

language = "English (US)",

volume = "407",

pages = "97--100",

journal = "Neuroscience Letters",

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T1 - The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor

AU - Deng, Hao

AU - Le, Weidong

AU - Davidson, Anthony L.

AU - Xie, Wen Jie

AU - Jankovic, Joseph

N1 - Funding Information: Supported by grants NS 043567 from the National Institute of Neurological Disorders and Stroke and from the National Parkinson Foundation to the Baylor College of Medicine Center of Excellence. The authors thank the participating patients for their cooperation. Copyright: Copyright 2008 Elsevier B.V., All rights reserved.

PY - 2006/10/23

Y1 - 2006/10/23

N2 - Several mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified both in familial and sporadic cases of Parkinson's disease (PD). G2019S, located at a kinase (MAPKKK) domain, is the most common mutation in the LRRK2 gene in PD, Two adjacent mutations (I2012T and I2020T) were mapped to the same domain suggesting shared pathogenic mechanism of these mutations. Since phenotypes of PD overlap with essential tremor (ET), we investigated LRRK2 G2019S, I2012T, and I2020T mutations in a cohort of 272 patients with ET. No mutations were found in our ET cohort and, therefore, we conclude that LRKK2 I2012T, G2019S and I2020T variants are rare causes of Caucasian ET.

AB - Several mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified both in familial and sporadic cases of Parkinson's disease (PD). G2019S, located at a kinase (MAPKKK) domain, is the most common mutation in the LRRK2 gene in PD, Two adjacent mutations (I2012T and I2020T) were mapped to the same domain suggesting shared pathogenic mechanism of these mutations. Since phenotypes of PD overlap with essential tremor (ET), we investigated LRRK2 G2019S, I2012T, and I2020T mutations in a cohort of 272 patients with ET. No mutations were found in our ET cohort and, therefore, we conclude that LRKK2 I2012T, G2019S and I2020T variants are rare causes of Caucasian ET.

KW - Essential tremor

KW - G2019S

KW - I2012T

KW - I2020T

KW - LRRK2

KW - Parkinson's disease

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JO - Neuroscience Letters

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The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor

Abstract

Keywords

ASJC Scopus subject areas

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