Literature DB >> 16298482

LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease.

Jon Infante1, Eloy Rodríguez, Onofre Combarros, Ignacio Mateo, Ana Fontalba, Julio Pascual, Agustín Oterino, José Miguel Polo, Carlos Leno, José Berciano.   

Abstract

Mutations in the leucine-rich repat kinase 2 (LRRK2) gene have been shown to cause both autosomal dominant and sporadic Parkinson's disease (PD). The common G2019S mutation shows wide geographical distribution while R1441G has been only reported in Northern Spain. The overall frequency of these mutations remains to be established. To determine the prevalence of G2019S and R1441G mutations in our population of Cantabria (Northern Spain), we recruited 105 consecutive PD patients and 310 controls and conducted genetic analysis of these mutations. G2019S was detected in eight late-onset patients (7.6%). Five of them had no relevant family history. R1441G was not detected in any of our study subjects. The prevalence of G2019S mutation in unselected late-onset PD patients might be higher than previously reported: 3/16 (18.7%) of familial PD and 5/82 (6.1%) of sporadic PD.

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Year:  2005        PMID: 16298482     DOI: 10.1016/j.neulet.2005.10.083

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


  18 in total

Review 1.  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 2.  Role of LRRK2 kinase dysfunction in Parkinson disease.

Authors:  Azad Kumar; Mark R Cookson
Journal:  Expert Rev Mol Med       Date:  2011-06-13       Impact factor: 5.600

3.  Upregulation of the p53-p21 pathway by G2019S LRRK2 contributes to the cellular senescence and accumulation of α-synuclein.

Authors:  Dong Hwan Ho; Wongi Seol; Ilhong Son
Journal:  Cell Cycle       Date:  2019-02-06       Impact factor: 4.534

Review 4.  Heterogeneity of leucine-rich repeat kinase 2 mutations: genetics, mechanisms and therapeutic implications.

Authors:  Iakov N Rudenko; Mark R Cookson
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

Review 5.  PARK8 LRRK2 parkinsonism.

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

6.  Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease.

Authors:  Tiziana Squillaro; Franca Cambi; Giuseppe Ciacci; Simone Rossi; Monica Ulivelli; Alessandro Malandrini; Maria Antonietta Mencarelli; Francesca Mari; Alessandra Renieri; Francesca Ariani
Journal:  J Hum Genet       Date:  2007-01-18       Impact factor: 3.172

7.  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

Review 8.  LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease.

Authors:  Vincenzo Bonifati
Journal:  Neurochem Res       Date:  2007-04-18       Impact factor: 3.996

9.  Analysis of the LRRK2 p.G2019S mutation in Colombian Parkinson's Disease Patients.

Authors:  Andrés Felipe Duque; Juan Carlos Lopez; Bruno Benitez; Helena Hernandez; Juan José Yunis; William Fernandez; Humberto Arboleda; Gonzalo Arboleda
Journal:  Colomb Med (Cali)       Date:  2015-09-30

Review 10.  Leucine-rich repeat kinase 2 (LRRK2): a key player in the pathogenesis of Parkinson's disease.

Authors:  Payal N Gandhi; Shu G Chen; Amy L Wilson-Delfosse
Journal:  J Neurosci Res       Date:  2009-05-01       Impact factor: 4.164

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