Literature DB >> 17540608

Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain.

María C González-Fernández1, Elena Lezcano, Owen A Ross, Juan C Gómez-Esteban, Fernando Gómez-Busto, Fernando Velasco, Maite Alvarez-Alvarez, María B Rodríguez-Martínez, Roberto Ciordia, Juan J Zarranz, Matthew J Farrer, Ignacio F Mata, Marian M de Pancorbo.   

Abstract

Herein we describe a comparative clinical and genetic study of Lrrk2-associated parkinsonism in Northern Spain. In our sample from the Basque region, Lrrk2 R1441G and G2019S account for 15 out of 50 kindreds (30%) with familial Parkinson's disease. We observe common founder haplotypes for both R1441G and G2019S carriers. Our findings highlight the importance of Lrrk2 parkinsonism in this population and may have important consequences for its extended Diaspora in North, Central and South Americas.

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Year:  2007        PMID： 17540608     DOI： 10.1016/j.parkreldis.2007.04.003

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


  18 in total

1.  Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

Authors:  Owen A Ross; Alexandra I Soto-Ortolaza; Michael G Heckman; Jan O Aasly; Nadine Abahuni; Grazia Annesi; Justin A Bacon; Soraya Bardien; Maria Bozi; Alexis Brice; Laura Brighina; Christine Van Broeckhoven; Jonathan Carr; Marie-Christine Chartier-Harlin; Efthimios Dardiotis; Dennis W Dickson; Nancy N Diehl; Alexis Elbaz; Carlo Ferrarese; Alessandro Ferraris; Brian Fiske; J Mark Gibson; Rachel Gibson; Georgios M Hadjigeorgiou; Nobutaka Hattori; John P A Ioannidis; Barbara Jasinska-Myga; Beom S Jeon; Yun Joong Kim; Christine Klein; Rejko Kruger; Elli Kyratzi; Suzanne Lesage; Chin-Hsien Lin; Timothy Lynch; Demetrius M Maraganore; George D Mellick; Eugénie Mutez; Christer Nilsson; Grzegorz Opala; Sung Sup Park; Andreas Puschmann; Aldo Quattrone; Manu Sharma; Peter A Silburn; Young Ho Sohn; Leonidas Stefanis; Vera Tadic; Jessie Theuns; Hiroyuki Tomiyama; Ryan J Uitti; Enza Maria Valente; Simone van de Loo; Demetrios K Vassilatis; Carles Vilariño-Güell; Linda R White; Karin Wirdefeldt; Zbigniew K Wszolek; Ruey-Meei Wu; Matthew J Farrer
Journal:  Lancet Neurol       Date:  2011-08-30       Impact factor: 44.182

2.  The screening of the 3'UTR sequence of LRRK2 identified an association between the rs66737902 polymorphism and Parkinson's disease.

Authors:  Lucía F Cardo; Eliecer Coto; René Ribacoba; Ignacio F Mata; Germán Moris; Manuel Menéndez; Victoria Alvarez
Journal:  J Hum Genet       Date:  2014-04-24       Impact factor: 3.172

3.  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

4.  Impaired dopaminergic neurotransmission and microtubule-associated protein tau alterations in human LRRK2 transgenic mice.

Authors:  H L Melrose; J C Dächsel; B Behrouz; S J Lincoln; M Yue; K M Hinkle; C B Kent; E Korvatska; J P Taylor; L Witten; Y-Q Liang; J E Beevers; M Boules; B N Dugger; V A Serna; A Gaukhman; X Yu; M Castanedes-Casey; A T Braithwaite; S Ogholikhan; N Yu; D Bass; G Tyndall; G D Schellenberg; D W Dickson; C Janus; M J Farrer
Journal:  Neurobiol Dis       Date:  2010-07-24       Impact factor: 5.996

5.  Novel Lrrk2-p.S1761R mutation is not a common cause of Parkinson's disease in Spain.

Authors:  Ignacio F Mata; Victoria Alvarez; Renee Ribacoba; Jon Infante; María Sierra; Pilar Gómez-Garre; Pablo Mir; Sarah Waldherr; Dora Yearout; Cyrus P Zabetian
Journal:  Mov Disord       Date:  2013-02-06       Impact factor: 10.338

6.  Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

Authors:  Owen A Ross; Cleanthe Spanaki; Alida Griffith; Chin-Hsien Lin; Jennifer Kachergus; Kristoffer Haugarvoll; Helen Latsoudis; Andreas Plaitakis; Joaquim J Ferreira; Cristina Sampaio; Vincenzo Bonifati; Ruey-Meei Wu; Cyrus P Zabetian; Matthew J Farrer
Journal:  Parkinsonism Relat Disord       Date:  2008-10-26       Impact factor: 4.891

7.  Screening for replication of genome-wide SNP associations in sporadic ALS.

Authors:  Simon Cronin; Barbara Tomik; Daniel G Bradley; Agnieszka Slowik; Orla Hardiman
Journal:  Eur J Hum Genet       Date:  2008-11-05       Impact factor: 4.246

8.  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

9.  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

10.  LRRK2 G2019S and R1441G mutations associated with Parkinson's disease are common in the Basque Country, but relative prevalence is determined by ethnicity.

Authors:  A Gorostidi; J Ruiz-Martínez; A Lopez de Munain; A Alzualde; J F Martí Massó
Journal:  Neurogenetics       Date:  2008-11-20       Impact factor: 2.660
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