Literature DB >> 15955629

The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients.

E K Tan1, H Shen, L C S Tan, M Farrer, K Yew, E Chua, R D Jamora, K Puvan, K Y Puong, Y Zhao, R Pavanni, M C Wong, Yuen Yih, L Skipper, Jian-Jun Liu.   

Abstract

A common heterozygous leucine-rich repeat kinase 2 (LRRK2) mutation 6055G > A transition (G2019S) accounts for about 3-7% of familial Parkinson's disease (PD) and 1-1.6% sporadic PD in a number of European populations. To determine the prevalence of the G1019S mutation in our Asian population, we conducted genetic analysis of this mutation in 1000 PD and healthy controls. The G2019S mutation was not detected in any of our study subjects. The prevalence of G2019S mutation is rare (< 0.1%) in our population, suggesting that occurrence of this mutation may vary amongst different ethnic races. This has important clinical implication when implementing guidelines for genetic testing.

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Year:  2005        PMID: 15955629     DOI: 10.1016/j.neulet.2005.04.103

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


  26 in total

1.  A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan.

Authors:  Alessio Di Fonzo; Yah-Huei Wu-Chou; Chin-Song Lu; Marina van Doeselaar; Erik J Simons; Christan F Rohé; Hsiu-Chen Chang; Rou-Shayn Chen; Yi-Hsin Weng; Nicola Vanacore; Guido J Breedveld; Ben A Oostra; Vincenzo Bonifati
Journal:  Neurogenetics       Date:  2006-04-22       Impact factor: 2.660

2.  The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence.

Authors:  E K Tan; Y Zhao; L Skipper; M G Tan; A Di Fonzo; L Sun; S Fook-Chong; S Tang; E Chua; Y Yuen; L Tan; R Pavanni; M C Wong; P Kolatkar; C S Lu; V Bonifati; J J Liu
Journal:  Hum Genet       Date:  2006-09-30       Impact factor: 4.132

Review 3.  LRRK2 in Parkinson disease: challenges of clinical trials.

Authors:  Eduardo Tolosa; Miquel Vila; Christine Klein; Olivier Rascol
Journal:  Nat Rev Neurol       Date:  2020-01-24       Impact factor: 42.937

Review 4.  The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews.

Authors:  Avner Thaler; Elissa Ash; Ziv Gan-Or; Avi Orr-Urtreger; Nir Giladi
Journal:  J Neural Transm (Vienna)       Date:  2009-11       Impact factor: 3.575

Review 5.  The unlikely partnership between LRRK2 and α-synuclein in Parkinson's disease.

Authors:  Noémie Cresto; Camille Gardier; Francesco Gubinelli; Marie-Claude Gaillard; Géraldine Liot; Andrew B West; Emmanuel Brouillet
Journal:  Eur J Neurosci       Date:  2018-10-24       Impact factor: 3.386

Review 6.  PARK8 LRRK2 parkinsonism.

Authors:  Kristoffer Haugarvoll; Zbigniew K Wszolek
Journal:  Curr Neurol Neurosci Rep       Date:  2006-07       Impact factor: 5.081

7.  LRRK2 P755L variant in sporadic Parkinson's disease.

Authors:  Hiroyuki Tomiyama; Ikuko Mizuta; Yuanzhe Li; Manabu Funayama; Hiroyo Yoshino; Lin Li; Miho Murata; Mitsutoshi Yamamoto; Shin-Ichiro Kubo; Yoshikuni Mizuno; Tatsushi Toda; Nobutaka Hattori
Journal:  J Hum Genet       Date:  2008-10-16       Impact factor: 3.172

8.  Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease.

Authors:  Jung Mi Choi; Myoung Soo Woo; Hyeo-Il Ma; Suk Yun Kang; Young-Hee Sung; Seok Woo Yong; Sun Ju Chung; Joong-Seok Kim; Hae-won Shin; Chul Hyoung Lyoo; Phil Hyu Lee; Jong Sam Baik; Sang-Jin Kim; Mee Young Park; Young Ho Sohn; Jin-Ho Kim; Jae Woo Kim; Myung Sik Lee; Myoung Chong Lee; Dong-Hyun Kim; Yun Joong Kim
Journal:  Neurogenetics       Date:  2008-08-15       Impact factor: 2.660

Review 9.  Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.

Authors:  Dena G Hernandez; Xylena Reed; Andrew B Singleton
Journal:  J Neurochem       Date:  2016-04-18       Impact factor: 5.372

10.  Lrrk2 mutations in South America: A study of Chilean Parkinson's disease.

Authors:  Carolina Perez-Pastene; Stephanie A Cobb; Fernando Díaz-Grez; Mary M Hulihan; Marcelo Miranda; Pablo Venegas; Osvaldo Trujillo Godoy; Jennifer M Kachergus; Owen A Ross; Luis Layson; Matthew J Farrer; Juan Segura-Aguilar
Journal:  Neurosci Lett       Date:  2007-06-17       Impact factor: 3.046

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