Literature DB >> 22669510

Age at onset in LRRK2-associated PD is modified by SNCA variants.

Teresa Botta-Orfila1, Mario Ezquerra, Pau Pastor, Rubén Fernández-Santiago, Claustre Pont-Sunyer, Yaroslau Compta, Oswaldo Lorenzo-Betancor, Lluis Samaranch, Maria José Martí, Francesc Valldeoriola, Matilde Calopa, Manel Fernández, Miquel Aguilar, Oriol de Fabregas, Jorge Hernández-Vara, Eduard Tolosa.   

Abstract

Mutations in the leucine-rich repeat kinase 2 (LRRK2) and α-synuclein (SNCA) genes are known genetic causes of Parkinson's disease (PD). Recently, a genetic variant in SNCA has been associated with a lower age at onset in idiopathic PD (IPD). We genotyped the SNCA polymorphism rs356219 in 84 LRRK2-associated PD patients carrying the G2019S mutation. We found that a SNCA genetic variant is associated with an earlier age at onset in LRRK2-associated PD. Our results support the notion that SNCA variants can modify the pathogenic effect of LRRK2 mutations as described previously for IPD.

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Year:  2012        PMID： 22669510     DOI： 10.1007/s12031-012-9820-7

Source DB:  PubMed          Journal:  J Mol Neurosci        ISSN： 0895-8696            Impact factor:   3.444


  14 in total

1.  A search for SNCA 3' UTR variants identified SNP rs356165 as a determinant of disease risk and onset age in Parkinson's disease.

Authors:  Lucía F Cardo; Eliecer Coto; Lorena de Mena; René Ribacoba; Oswaldo Lorenzo-Betancor; Pau Pastor; Lluis Samaranch; Ignacio F Mata; Marta Díaz; Germán Moris; Manuel Menéndez; Ana I Corao; Victoria Alvarez
Journal:  J Mol Neurosci       Date:  2011-11-11       Impact factor: 3.444

2.  SNCA variant associated with Parkinson disease and plasma alpha-synuclein level.

Authors:  Ignacio F Mata; Min Shi; Pinky Agarwal; Kathryn A Chung; Karen L Edwards; Stewart A Factor; Douglas R Galasko; Carmen Ginghina; Alida Griffith; Donald S Higgins; Denise M Kay; Hojoong Kim; James B Leverenz; Joseph F Quinn; John W Roberts; Ali Samii; Katherine W Snapinn; Debby W Tsuang; Dora Yearout; Jing Zhang; Haydeh Payami; Cyrus P Zabetian
Journal:  Arch Neurol       Date:  2010-11

3.  SNPStats: a web tool for the analysis of association studies.

Authors:  Xavier Solé; Elisabet Guinó; Joan Valls; Raquel Iniesta; Víctor Moreno
Journal:  Bioinformatics       Date:  2006-05-23       Impact factor: 6.937

4.  Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease.

Authors:  Demetrius M Maraganore; Mariza de Andrade; Alexis Elbaz; Matthew J Farrer; John P Ioannidis; Rejko Krüger; Walter A Rocca; Nicole K Schneider; Timothy G Lesnick; Sarah J Lincoln; Mary M Hulihan; Jan O Aasly; Tetsuo Ashizawa; Marie-Christine Chartier-Harlin; Harvey Checkoway; Carlo Ferrarese; Georgios Hadjigeorgiou; Nobutaka Hattori; Hideshi Kawakami; Jean-Charles Lambert; Timothy Lynch; George D Mellick; Spiridon Papapetropoulos; Abbas Parsian; Aldo Quattrone; Olaf Riess; Eng-King Tan; Christine Van Broeckhoven
Journal:  JAMA       Date:  2006-08-09       Impact factor: 56.272

5.  Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease.

Authors:  Ignacio F Mata; Dora Yearout; Victoria Alvarez; Eliecer Coto; Lorena de Mena; Renee Ribacoba; Oswaldo Lorenzo-Betancor; Lluis Samaranch; Pau Pastor; Sebastian Cervantes; Jon Infante; Ines Garcia-Gorostiaga; Maria Sierra; Onofre Combarros; Katherine W Snapinn; Karen L Edwards; Cyrus P Zabetian
Journal:  Mov Disord       Date:  2011-03-21       Impact factor: 10.338

6.  Multiple regions of alpha-synuclein are associated with Parkinson's disease.

Authors:  Jakob C Mueller; Julia Fuchs; Anne Hofer; Alexander Zimprich; Peter Lichtner; Thomas Illig; Daniela Berg; Ullrich Wüllner; Thomas Meitinger; Thomas Gasser
Journal:  Ann Neurol       Date:  2005-04       Impact factor: 10.422

7.  LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance.

Authors:  Carles Gaig; Mario Ezquerra; Maria Jose Marti; Esteban Muñoz; Francesc Valldeoriola; Eduardo Tolosa
Journal:  Arch Neurol       Date:  2006-03

8.  Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.

Authors:  Daniel G Healy; Mario Falchi; Sean S O'Sullivan; Vincenzo Bonifati; Alexandra Durr; Susan Bressman; Alexis Brice; Jan Aasly; Cyrus P Zabetian; Stefano Goldwurm; Joaquim J Ferreira; Eduardo Tolosa; Denise M Kay; Christine Klein; David R Williams; Connie Marras; Anthony E Lang; Zbigniew K Wszolek; Jose Berciano; Anthony H V Schapira; Timothy Lynch; Kailash P Bhatia; Thomas Gasser; Andrew J Lees; Nicholas W Wood
Journal:  Lancet Neurol       Date:  2008-06-06       Impact factor: 44.182

9.  Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.

Authors:  Alexander Zimprich; Saskia Biskup; Petra Leitner; Peter Lichtner; Matthew Farrer; Sarah Lincoln; Jennifer Kachergus; Mary Hulihan; Ryan J Uitti; Donald B Calne; A Jon Stoessl; Ronald F Pfeiffer; Nadja Patenge; Iria Carballo Carbajal; Peter Vieregge; Friedrich Asmus; Bertram Müller-Myhsok; Dennis W Dickson; Thomas Meitinger; Tim M Strom; Zbigniew K Wszolek; Thomas Gasser
Journal:  Neuron       Date:  2004-11-18       Impact factor: 17.173

10.  Genome-wide association study reveals genetic risk underlying Parkinson's disease.

Authors:  Javier Simón-Sánchez; Claudia Schulte; Jose M Bras; Manu Sharma; J Raphael Gibbs; Daniela Berg; Coro Paisan-Ruiz; Peter Lichtner; Sonja W Scholz; Dena G Hernandez; Rejko Krüger; Monica Federoff; Christine Klein; Alison Goate; Joel Perlmutter; Michael Bonin; Michael A Nalls; Thomas Illig; Christian Gieger; Henry Houlden; Michael Steffens; Michael S Okun; Brad A Racette; Mark R Cookson; Kelly D Foote; Hubert H Fernandez; Bryan J Traynor; Stefan Schreiber; Sampath Arepalli; Ryan Zonozi; Katrina Gwinn; Marcel van der Brug; Grisel Lopez; Stephen J Chanock; Arthur Schatzkin; Yikyung Park; Albert Hollenbeck; Jianjun Gao; Xuemei Huang; Nick W Wood; Delia Lorenz; Günther Deuschl; Honglei Chen; Olaf Riess; John A Hardy; Andrew B Singleton; Thomas Gasser
Journal:  Nat Genet       Date:  2009-11-15       Impact factor: 38.330
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  12 in total

Review 1.  Investigating human disease using stem cell models.

Authors:  Jared L Sterneckert; Peter Reinhardt; Hans R Schöler
Journal:  Nat Rev Genet       Date:  2014-07-29       Impact factor: 53.242

2.  Mutant LRRK2 toxicity in neurons depends on LRRK2 levels and synuclein but not kinase activity or inclusion bodies.

Authors:  Gaia Skibinski; Ken Nakamura; Mark R Cookson; Steven Finkbeiner
Journal:  J Neurosci       Date:  2014-01-08       Impact factor: 6.167

Review 3.  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 4.  Genetics of synucleins in neurodegenerative diseases.

Authors:  José Brás; Elizabeth Gibbons; Rita Guerreiro
Journal:  Acta Neuropathol       Date:  2020-08-01       Impact factor: 17.088

5.  SNCA Gene, but Not MAPT, Influences Onset Age of Parkinson's Disease in Chinese and Australians.

Authors:  Yue Huang; Gang Wang; Dominic Rowe; Ying Wang; John B J Kwok; Qin Xiao; Frank Mastaglia; Jun Liu; Sheng-Di Chen; Glenda Halliday
Journal:  Biomed Res Int       Date:  2015-04-15       Impact factor: 3.411

6.  Divergent α-synuclein solubility and aggregation properties in G2019S LRRK2 Parkinson's disease brains with Lewy Body pathology compared to idiopathic cases.

Authors:  Adamantios Mamais; Meera Raja; Claudia Manzoni; Sybille Dihanich; Andrew Lees; Darren Moore; Patrick A Lewis; Rina Bandopadhyay
Journal:  Neurobiol Dis       Date:  2013-06-05       Impact factor: 5.996

Review 7.  Genetic Variants in SNCA and the Risk of Sporadic Parkinson's Disease and Clinical Outcomes: A Review.

Authors:  Clarissa Loureiro das Chagas Campêlo; Regina Helena Silva
Journal:  Parkinsons Dis       Date:  2017-07-11

8.  Generation of iPSCs carrying a common LRRK2 risk allele for in vitro modeling of idiopathic Parkinson's disease.

Authors:  Lara Marrone; Christine Bus; David Schöndorf; Julia Catherine Fitzgerald; Manuela Kübler; Benjamin Schmid; Peter Reinhardt; Lydia Reinhardt; Michela Deleidi; Tanya Levin; Andrea Meixner; Barbara Klink; Michael Glatza; Christian Johannes Gloeckner; Thomas Gasser; Jared Sterneckert
Journal:  PLoS One       Date:  2018-03-07       Impact factor: 3.240

Review 9.  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

10.  Variants in SNCA Gene Are Associated with Parkinson's Disease Risk and Cognitive Symptoms in a Brazilian Sample.

Authors:  Clarissa L C Campêlo; Fernanda C Cagni; Diego de Siqueira Figueredo; Luiz G Oliveira; Antônio B Silva-Neto; Priscila T Macêdo; José R Santos; Geison S Izídio; Alessandra M Ribeiro; Tiago G de Andrade; Clécio de Oliveira Godeiro; Regina H Silva
Journal:  Front Aging Neurosci       Date:  2017-06-20       Impact factor: 5.750
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