Literature DB >> 20727385

Low frequency of common LRRK2 mutations in Mexican patients with Parkinson's disease.

Petra Yescas1, Marisol López, Nancy Monroy, Marie-Catherine Boll, Mayela Rodríguez-Violante, Ulises Rodríguez, Adriana Ochoa, María Elisa Alonso.   

Abstract

Mutations in leucine-rich repeat kinase 2 gene (LRRK2) account for as much as 5-6% of familial Parkinson's disease (PD) and 1-2% of sporadic PD. These mutations represent the most frequent cause of autosomal dominant PD, particularly in certain ethnic groups. In this first report concerning LRRK2 mutations in Mexican-mestizos, we screened 319 consecutive PD patients (186 males; 133 females; mean age at onset: 52.4 years) for LRRK2 mutations in exons 31 and 41 and for the mutation in exon 35, which produces the Y1699C substitution. Three (0.94%) patients, two with sporadic PD and one with familial PD (disease mean age at onset, 53.3 years), were heterozygous for LRRK2 mutations. Of these three, two patients had one of two different mutations in exon 31 (R1441G and R1441H, respectively); the other patient carried the G2019S mutation in exon 41. The Y1699C mutation was absent from this PD sample. Four additional subjects, unaffected relatives of one PD patient with a mutation in LRRK2, were subsequently genetically tested. None of the three LRRK2 mutations identified was present in 200 neurologically healthy Mexican control individuals. These findings have important implications for molecular testing of LRRK2 mutations in Mexican PD patients.
Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

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Year:  2010        PMID: 20727385     DOI: 10.1016/j.neulet.2010.08.029

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


  9 in total

1.  LRRK2 G2019S mutations may be increased in Puerto Ricans.

Authors:  Rachel Saunders-Pullman; Jose Cabassa; Marta San Luciano; Kaili Stanley; Deborah Raymond; Laurie J Ozelius; Susan B Bressman
Journal:  Mov Disord       Date:  2011-03-29       Impact factor: 10.338

2.  The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.

Authors:  Ignacio F Mata; Marie Y Davis; Alexis N Lopez; Michael O Dorschner; Erica Martinez; Dora Yearout; Brenna A Cholerton; Shu-Ching Hu; Karen L Edwards; Thomas D Bird; Cyrus P Zabetian
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2016-04-25       Impact factor: 3.568

3.  Identification of a Japanese family with LRRK2 p.R1441G-related Parkinson's disease.

Authors:  Taku Hatano; Manabu Funayama; Shin-Ichiro Kubo; Ignacio F Mata; Yutaka Oji; Akio Mori; Cyrus P Zabetian; Sarah M Waldherr; Hiroyo Yoshino; Genko Oyama; Yasushi Shimo; Ken-Ichi Fujimoto; Hirokazu Oshima; Yasuto Kunii; Hirooki Yabe; Yoshikuni Mizuno; Nobutaka Hattori
Journal:  Neurobiol Aging       Date:  2014-06-02       Impact factor: 4.673

4.  Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry.

Authors:  Mario Cornejo-Olivas; Luis Torres; Mario R Velit-Salazar; Miguel Inca-Martinez; Pilar Mazzetti; Carlos Cosentino; Federico Micheli; Claudia Perandones; Elena Dieguez; Victor Raggio; Vitor Tumas; Vanderci Borges; Henrique B Ferraz; Carlos R M Rieder; Artur Shumacher-Schuh; Carlos Velez-Pardo; Marlene Jimenez-Del-Rio; Francisco Lopera; Jorge Chang-Castello; Brennie Andreé-Munoz; Sarah Waldherr; Dora Yearout; Cyrus P Zabetian; Ignacio F Mata
Journal:  NPJ Parkinsons Dis       Date:  2017-06-02

5.  Differences in MTHFR and LRRK2 variant's association with sporadic Parkinson's disease in Mexican Mestizos correlated to Native American ancestry.

Authors:  Elizabeth Romero-Gutiérrez; Paola Vázquez-Cárdenas; Hortensia Moreno-Macías; José Salas-Pacheco; Teresa Tusié-Luna; Oscar Arias-Carrión
Journal:  NPJ Parkinsons Dis       Date:  2021-02-11

Review 6.  Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson's disease.

Authors:  Paweł Turski; Iwona Chaberska; Piotr Szukało; Paulina Pyska; Łukasz Milanowski; Stanisław Szlufik; Monika Figura; Dorota Hoffman-Zacharska; Joanna Siuda; Dariusz Koziorowski
Journal:  Front Neurosci       Date:  2022-09-20       Impact factor: 5.152

Review 7.  LRRK2: cause, risk, and mechanism.

Authors:  Coro Paisán-Ruiz; Patrick A Lewis; Andrew B Singleton
Journal:  J Parkinsons Dis       Date:  2013       Impact factor: 5.568

8.  The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human.

Authors:  Rafeeq Mir; Francesca Tonelli; Pawel Lis; Thomas Macartney; Nicole K Polinski; Terina N Martinez; Meng-Yun Chou; Andrew J M Howden; Theresa König; Christoph Hotzy; Ivan Milenkovic; Thomas Brücke; Alexander Zimprich; Esther Sammler; Dario R Alessi
Journal:  Biochem J       Date:  2018-06-06       Impact factor: 3.857

Review 9.  LRRK 2 gene mutations in the pathophysiology of the ROCO domain and therapeutic targets for Parkinson's disease: a review.

Authors:  Meng-Ling Chen; Ruey-Meei Wu
Journal:  J Biomed Sci       Date:  2018-06-14       Impact factor: 8.410

  9 in total

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