Literature DB >> 16939701

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

Hao Deng1, WeiDong Le, Anthony L Davidson, WenJie Xie, Joseph Jankovic.   

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.

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Year:  2006        PMID: 16939701     DOI: 10.1016/j.neulet.2006.08.012

Source DB:  PubMed          Journal:  Neurosci Lett        ISSN: 0304-3940            Impact factor:   3.046


  8 in total

1.  Replication of the LINGO1 gene association with essential tremor in a North American population.

Authors:  Lorraine N Clark; Naeun Park; Sergey Kisselev; Eileen Rios; Joseph H Lee; Elan D Louis
Journal:  Eur J Hum Genet       Date:  2010-04-07       Impact factor: 4.246

2.  Genetic analysis of the leucine-rich repeat and lg domain containing Nogo receptor-interacting protein 1 gene in essential tremor.

Authors:  Hui Liang; Zhi Song; Xiong Deng; Hongbo Xu; Anding Zhu; Wen Zheng; Yongxiang Zhao; Hao Deng
Journal:  J Mol Neurosci       Date:  2013-06-12       Impact factor: 3.444

3.  Role of LINGO1 polymorphisms in Parkinson's disease.

Authors:  Dietrich Haubenberger; Christoph Hotzy; Walter Pirker; Regina Katzenschlager; Thomas Brücke; Fritz Zimprich; Eduard Auff; Alexander Zimprich
Journal:  Mov Disord       Date:  2009-12-15       Impact factor: 10.338

4.  Type II kinase inhibitors show an unexpected inhibition mode against Parkinson's disease-linked LRRK2 mutant G2019S.

Authors:  Min Liu; Samantha A Bender; Gregory D Cuny; Woody Sherman; Marcie Glicksman; Soumya S Ray
Journal:  Biochemistry       Date:  2013-03-01       Impact factor: 3.162

5.  DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease.

Authors:  Brett H Keeling; Carles Vilariño-Güell; Owen A Ross; Zbigniew K Wszolek; Ryan J Uitti; Matthew J Farrer
Journal:  Neurosci Lett       Date:  2009-06-12       Impact factor: 3.046

6.  Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor.

Authors:  Lorraine N Clark; Sergey Kisselev; Naeun Park; Barbara Ross; Miguel Verbitsky; Eileen Rios; Roy N Alcalay; Joseph H Lee; Elan D Louis
Journal:  Parkinsonism Relat Disord       Date:  2009-06-13       Impact factor: 4.891

7.  Case-control analysis of LRRK2 protective variants in Essential Tremor.

Authors:  Adeline S L Ng; Ebonne Y L Ng; Yi Jayne Tan; Kumar M Prakash; Wing Lok Au; Louis C S Tan; Eng-King Tan
Journal:  Sci Rep       Date:  2018-03-28       Impact factor: 4.379

Review 8.  Genomic Markers for Essential Tremor.

Authors:  Félix Javier Jiménez-Jiménez; Hortensia Alonso-Navarro; Elena García-Martín; Ignacio Álvarez; Pau Pastor; José A G Agúndez
Journal:  Pharmaceuticals (Basel)       Date:  2021-05-27
  8 in total

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