Literature DB >> 17215492

Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease.

S Goldwurm1, M Zini, L Mariani, S Tesei, R Miceli, F Sironi, M Clementi, V Bonifati, G Pezzoli.   

Abstract

We report the results of a family-based study of LRRK2 G2019S penetrance in Parkinson disease. We studied 19 families identified through the analysis of unrelated consecutive patients. The cumulative incidence of the disease was 15% at 60 years, 21% at 70 years, and 32% at 80 years. This study provides accurate estimates of G2019S penetrance by minimizing the selection bias.

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Year:  2007        PMID： 17215492     DOI： 10.1212/01.wnl.0000254483.19854.ef

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  42 in total

1.  Association between Parkinson's disease and G2019S and R1441C mutations of the LRRK2 gene.

Authors:  Xiao-Xia Li; Qin Liao; Huan Xia; Xin-Ling Yang
Journal:  Exp Ther Med       Date:  2015-07-27       Impact factor: 2.447

Review 2.  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

3.  Substantia nigra hyperechogenicity with LRRK2 G2019S mutations.

Authors:  Norbert Brüggemann; Johann Hagenah; Kaili Stanley; Christine Klein; Cuiling Wang; Deborah Raymond; Laurie Ozelius; Susan Bressman; Rachel Saunders-Pullman
Journal:  Mov Disord       Date:  2011-02-10       Impact factor: 10.338

4.  Screening LRRK2 gene mutations in patients with Parkinson's disease in Ghana.

Authors:  Roberto Cilia; Francesca Sironi; Albert Akpalu; Momodou Cham; Fred Stephen Sarfo; Tiziana Brambilla; Alba Bonetti; Marianna Amboni; Stefano Goldwurm; Gianni Pezzoli
Journal:  J Neurol       Date:  2011-08-14       Impact factor: 4.849

Review 5.  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 6.  The genetics of Parkinson's disease: progress and therapeutic implications.

Authors:  Andrew B Singleton; Matthew J Farrer; Vincenzo Bonifati
Journal:  Mov Disord       Date:  2013-01       Impact factor: 10.338

7.  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

8.  Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 Penetrance.

Authors:  Paolo Solla; Antonino Cannas; Gianluca Floris; Maria Rita Murru; Daniela Corongiu; Stefania Tranquilli; Stefania Cuccu; Marcella Rolesu; Francesco Marrosu; Maria Giovanna Marrosu
Journal:  Parkinsons Dis       Date:  2010-08-19

9.  LRRK2 in Parkinson's disease - drawing the curtain of penetrance: a commentary.

Authors:  Rejko Krüger
Journal:  BMC Med       Date:  2008-11-05       Impact factor: 8.775

10.  Genomewide association study for onset age in Parkinson disease.

Authors:  Jeanne C Latourelle; Nathan Pankratz; Alexandra Dumitriu; Jemma B Wilk; Stefano Goldwurm; Gianni Pezzoli; Claudio B Mariani; Anita L DeStefano; Cheryl Halter; James F Gusella; William C Nichols; Richard H Myers; Tatiana Foroud
Journal:  BMC Med Genet       Date:  2009-09-22       Impact factor: 2.103
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