Kin‐cohort analysis of LRRK2 ‐G2019S penetrance in Parkinson's disease
2011; Wiley; Volume: 26; Issue: 11 Linguagem: Inglês
10.1002/mds.23807
ISSN1531-8257
AutoresStefano Goldwurm, Sara Tùnesi, Silvana Tesei, Michela Zini, Francesca Sironi, Paola Primignani, Corrado Magnani, Gianni Pezzoli,
Tópico(s)RNA regulation and disease
ResumoMovement DisordersVolume 26, Issue 11 p. 2144-2145 Letters: New Observation Kin-cohort analysis of LRRK2-G2019S penetrance in Parkinson's disease†‡§ Stefano Goldwurm MD, PhD, Corresponding Author Stefano Goldwurm MD, PhD [email protected] Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, ItalyParkinson Institute, Istituti Clinici di Perfezionamento, Via Bignami 1, 20126 Milano, ItalySearch for more papers by this authorSara Tunesi PhD, Sara Tunesi PhD Epidemiology and Biostatistics, Università del Piemonte Orientale "Amedeo Avogadro"–Alessandria, Novara, Vercelli, ItalySearch for more papers by this authorSilvana Tesei MD, Silvana Tesei MD Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, ItalySearch for more papers by this authorMichela Zini MD, Michela Zini MD Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, ItalySearch for more papers by this authorFrancesca Sironi, Francesca Sironi Medical Genetics Laboratory, Fondazione IRCCS "Ca' Granda," Ospedale Maggiore Policlinico, Milan, ItalySearch for more papers by this authorPaola Primignani, Paola Primignani Medical Genetics Laboratory, Fondazione IRCCS "Ca' Granda," Ospedale Maggiore Policlinico, Milan, ItalySearch for more papers by this authorCorrado Magnani MD, Corrado Magnani MD Epidemiology and Biostatistics, Università del Piemonte Orientale "Amedeo Avogadro"–Alessandria, Novara, Vercelli, ItalySearch for more papers by this authorGianni Pezzoli MD, Gianni Pezzoli MD Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, ItalySearch for more papers by this author Stefano Goldwurm MD, PhD, Corresponding Author Stefano Goldwurm MD, PhD [email protected] Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, ItalyParkinson Institute, Istituti Clinici di Perfezionamento, Via Bignami 1, 20126 Milano, ItalySearch for more papers by this authorSara Tunesi PhD, Sara Tunesi PhD Epidemiology and Biostatistics, Università del Piemonte Orientale "Amedeo Avogadro"–Alessandria, Novara, Vercelli, ItalySearch for more papers by this authorSilvana Tesei MD, Silvana Tesei MD Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, ItalySearch for more papers by this authorMichela Zini MD, Michela Zini MD Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, ItalySearch for more papers by this authorFrancesca Sironi, Francesca Sironi Medical Genetics Laboratory, Fondazione IRCCS "Ca' Granda," Ospedale Maggiore Policlinico, Milan, ItalySearch for more papers by this authorPaola Primignani, Paola Primignani Medical Genetics Laboratory, Fondazione IRCCS "Ca' Granda," Ospedale Maggiore Policlinico, Milan, ItalySearch for more papers by this authorCorrado Magnani MD, Corrado Magnani MD Epidemiology and Biostatistics, Università del Piemonte Orientale "Amedeo Avogadro"–Alessandria, Novara, Vercelli, ItalySearch for more papers by this authorGianni Pezzoli MD, Gianni Pezzoli MD Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, ItalySearch for more papers by this author First published: 28 June 2011 https://doi.org/10.1002/mds.23807Citations: 38 † Funding agencies: DNA samples were from the Biobank of the Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy (http://www.parkinson.it/dnabank.htm), supported by the Italian Telethon Foundation (grant no. GTB07001) and by the "Fondazione Grigioni per il Morbo di Parkinson." ‡ Relevant conflicts of interest/financial: disclosures: Nothing to report. § Full financial disclosures and author roles may be found in the online version of this article. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Wacholder S, Hartge P, Struewing JP, et al. The kin-cohort study for estimating penetrance. Am J Epidemiol 1998; 148: 623–629. 10.1093/aje/148.7.623 CASPubMedWeb of Science®Google Scholar 2 R Development Core Team. R: a language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria, 2008 (http://www.R-project.org). Moreno V, Chatterjee N, Mukherjee B. Analysis of kin-cohort studies, kin.cohort, R package, version 0.5–2008. Accessed April 21, 2011. Google Scholar 3 Kachergus J, Mata IF, Hulihan M, et al. Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European Populations. Am J Hum Genet 2005; 76: 672–680. 10.1086/429256 CASPubMedWeb of Science®Google Scholar 4 Latourelle JC, Sun M, Lew MF, et al. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med 2008; 6: 32. 10.1186/1741-7015-6-32 CASPubMedWeb of Science®Google Scholar 5 Healy DG, Falchi M, O'Sullivan SS, et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 2008; 7: 583–590. 10.1016/S1474-4422(08)70117-0 CASPubMedWeb of Science®Google Scholar 6 Clark LN, Wang Y, Karlins E, et al. Frequency of LRRK2 mutations in early and late onset Parkinson disease. Neurology 2006; 67: 1786–1791. 10.1212/01.wnl.0000244345.49809.36 CASPubMedWeb of Science®Google Scholar 7 Ozelius LJ, Senthil G, Saunders-Pullman R, et al. LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med 2006; 354: 424–425. 10.1056/NEJMc055509 CASPubMedWeb of Science®Google Scholar 8 Goldwurm S, Zini M, Mariani L, et al. Evaluation of LRRK2 G2019S penetrance: relevance for genetic counselling in Parkinson's disease. Neurology 2007; 68: 1141–1143. 10.1212/01.wnl.0000254483.19854.ef CASPubMedWeb of Science®Google Scholar 9 Hulihan MM, Ishihara-Paul L, Kachergus J, et al. LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study. Lancet Neurol 2008; 7: 591–594. 10.1016/S1474-4422(08)70116-9 CASPubMedWeb of Science®Google Scholar 10Goldwurm S, Tunesi S, Tesei S, et al. Kin-cohort analysis of LRRK2-G2019S penetrance in Parkinson's disease. Mov Disord 2011; xx: xxx–xxx. Google Scholar Citing Literature Volume26, Issue11September 2011Pages 2144-2145 ReferencesRelatedInformation
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