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<datestamp>2017-12-22</datestamp>
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<publisher>HAL CCSD</publisher>
<title lang=en>Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease.</title>
<creator>Lesage, Suzanne</creator>
<creator>Condroyer, Christel</creator>
<creator>Lannuzel, Annie</creator>
<creator>Lohmann, Ebba</creator>
<creator>Troiano, André, </creator>
<creator>Tison, François</creator>
<creator>Damier, Philippe</creator>
<creator>Thobois, Stéphane</creator>
<creator>Ouvrard-Hernandez, Anne-Marie</creator>
<creator>Rivaud-Péchoux, Sophie</creator>
<creator>Brefel-Courbon, Christine</creator>
<creator>Destée, Alain</creator>
<creator>Tranchant, Christine</creator>
<creator>Romana, Marc</creator>
<creator>Leclere, Laurence</creator>
<creator>Dürr, Alexandra</creator>
<creator>Brice, Alexis</creator>
<contributor>Neurologie et thérapeutique expérimentale ; Université Pierre et Marie Curie - Paris 6 (UPMC) - IFR70 - Institut National de la Santé et de la Recherche Médicale (INSERM)</contributor>
<contributor>Fédération des Maladies du Système Nerveux ; Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Pitié-Salpêtrière [APHP]</contributor>
<contributor>Service de Neurologie ; CHU Pointe-à-Pitre</contributor>
<contributor>Service de neurologie ; Hôpital Haut Lévêque</contributor>
<contributor>Clinique neurologique ; Hôpital Laennec</contributor>
<contributor>Service de neurologie C ; Université Claude Bernard Lyon 1 (UCBL) - Hospices Civils de Lyon - Hôpital neurologique et neurochirurgical Pierre Wertheimer</contributor>
<contributor>Département de neurologie ; Université Joseph Fourier - Grenoble 1 (UJF) - CHU Grenoble</contributor>
<contributor>Service de Pharmacologie Médicale et Clinique ; CHU Toulouse [Toulouse]</contributor>
<contributor>Service de neurochirurgie générale et stéréotaxique fonctionnelle ; Hôpital Roger Salengro - Université de Lille, Droit et Santé - Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)</contributor>
<contributor>Service de Neurologie [Strasbourg] ; CHU Strasbourg - Hopital Civil</contributor>
<contributor>Pharmacogénétique et abords thérapeutiques des maladies héréditaires ; Université des Antilles et de la Guyane (UAG) - Université Paris Diderot - Paris 7 (UPD7) - IFR2 - Institut National de la Santé et de la Recherche Médicale (INSERM)</contributor>
<contributor>Université des Antilles et de la Guyane (UAG)</contributor>
<contributor>Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière] ; Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Pitié-Salpêtrière [APHP]</contributor>
<description>International audience</description>
<source>ISSN: 0022-2593</source>
<source>EISSN: 1468-6244</source>
<source>Journal of Medical Genetics</source>
<publisher>BMJ Publishing Group</publisher>
<identifier>inserm-00529272</identifier>
<identifier>http://www.hal.inserm.fr/inserm-00529272</identifier>
<source>http://www.hal.inserm.fr/inserm-00529272</source>
<source>Journal of Medical Genetics, BMJ Publishing Group, 2009, 46 (7), pp.458-64. 〈10.1136/jmg.2008.062612〉</source>
<identifier>DOI : 10.1136/jmg.2008.062612</identifier>
<relation>info:eu-repo/semantics/altIdentifier/doi/10.1136/jmg.2008.062612</relation>
<identifier>PUBMED : 19357115</identifier>
<relation>info:eu-repo/semantics/altIdentifier/pmid/19357115</relation>
<language>en</language>
<subject>[SDV.GEN] Life Sciences [q-bio]/Genetics</subject>
<type>info:eu-repo/semantics/article</type>
<type>Journal articles</type>
<description lang=en>BACKGROUND: Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (ADPD), the most common of which is the p.G2019S substitution that has been found at varying frequencies worldwide. Because of the size of the LRRK2 gene, few studies have analysed the entire gene in large series of ADPD families. METHODS: We performed extensive mutation analyses of all 51 coding exons of the LRRK2 gene in index cases from 226 Parkinson's disease families compatible with autosomal dominant inheritance, mostly from France (n = 182) and North Africa (n = 14). RESULTS: We found 79 sequence variants, 29 of which were novel. Eight potentially or proven pathogenic mutations were found in 22 probands (9.7%). There were four novel amino acid substitutions that are potentially pathogenic (p.S52F, p.N363S, p.I810V, p.R1325Q) and two novel variants, p.H1216R and p.T1410M, that are probably not causative. The common p.G2019S mutation was identified in 13 probands (5.8%) including six from North Africa (43%). The known heterozygous p.R1441H and p.I1371V mutations were found in two probands each, and the p.E334K variant was identified in one single patient. Most potentially or proven pathogenic mutations were located in the functional domains of the Lrrk2 protein. CONCLUSION: This study leads us to conclude that LRRK2 mutations are a common cause of autosomal dominant Parkinson's disease in Europe and North Africa.</description>
<contributor>French Parkinson's Disease Genetics Study Group</contributor>
<date>2009-07</date>
<contributor>Agence Nationale de la Recherche ANR05-NEUR-019, Agence Nationale de la Recherche ANR05-NEUR-019</contributor>
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