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

被引：21

作者：

Deng, Hao ^{[1
]}

Le, WeiDong ^{[1
]}

Davidson, Anthony L. ^{[1
]}

Xie, WenJie ^{[1
]}

Jankovic, Joseph ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA

来源：

NEUROSCIENCE LETTERS | 2006年 / 407卷 / 02期

关键词：

essential tremor; Parkinson's disease; LRRK2; I2012T; G2019S; I2020T;

D O I：

10.1016/j.neulet.2006.08.012

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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. (c) 2006 Elsevier Ireland Ltd. All rights reserved.

引用

收藏

页码：97 / 100

页数：4

相关论文

共 27 条

[1] Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease [J].

Berg, D ;

Schweitzer, KJ ;

Leitner, P ;

Zimprich, A ;

Lichtner, P ;

Belcredi, P ;

Brüssel, T ;

Schulte, C ;

Maass, S ;

Nägele, T ;

Wszolek, ZK ;

Gasser, T .

BRAIN, 2005, 128 :3000-3011

[2] The LRRK2-G2019S mutation:: opening a novel era in Parkinson's disease genetics [J].

Bonifati, Vincenzo .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (10) :1061-1062

[3] Genetics of Parkinson's disease: LRRK2 on the rise [J].

Brice, A .

BRAIN, 2005, 128 :2760-2762

[4] Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation [J].

Deng, H ;

Le, WD ;

Guo, Y ;

Hunter, CB ;

Xie, WJ ;

Jankovic, J .

ANNALS OF NEUROLOGY, 2005, 57 (06) :933-934

[5] Premutation Alleles associated with Parkinson disease and essential tremor [J].

Deng, H ;

Le, WD ;

Jankovic, J .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2004, 292 (14) :1685-1686

[6] Genetic analysis of the GABRA1 gene in patients with essential tremor [J].

Deng, Hao ;

Xie, Wen-Jie ;

Le, Wei-Dong ;

Huang, Mao-Sheng ;

Jankovic, Joseph .

NEUROSCIENCE LETTERS, 2006, 401 (1-2) :16-19

[7]

FINDLEY LJ, 1994, HDB TREMOR DISORDERS, P1

[8] Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease [J].

Fung, Hon-Chung ;

Chen, Chiung-Mei ;

Hardy, John ;

Hernandez, Dena ;

Singleton, Andrew ;

Wu, Yih-Ru .

MOVEMENT DISORDERS, 2006, 21 (06) :880-881

[9] LRRK2 mutations in Spanish patients with Parkinson disease -: Frequency, clinical features, and incomplete penetrance [J].

Gaig, C ;

Ezquerra, M ;

Marti, MJ ;

Muñoz, E ;

Valldeoriola, F ;

Tolosa, E .

ARCHIVES OF NEUROLOGY, 2006, 63 (03) :377-382

[10] The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity [J].

Gloeckner, CJ ;

Kinkl, N ;

Schumacher, A ;

Braun, RJ ;

O'Neill, E ;

Meitinger, T ;

Kolch, W ;

Prokisch, H ;

Ueffing, M .

HUMAN MOLECULAR GENETICS, 2006, 15 (02) :223-232