Novel parkin mutations detected in patients with early‐onset Parkinson's disease
Identifieur interne : 000771 ( Istex/Curation ); précédent : 000770; suivant : 000772Novel parkin mutations detected in patients with early‐onset Parkinson's disease
Auteurs : Aida M. Bertoli-Avella [Pays-Bas] ; José L. Giroud-Benitez [Cuba] ; Ali Akyol [Turquie] ; Egberto Barbosa [Brésil] ; Onno Schaap [Pays-Bas] ; Herma C. Van Der Linde [Pays-Bas] ; Emilia Martignoni [Italie] ; Leonardo Lopiano [Italie] ; Paolo Lamberti [Italie] ; Emiliana Fincati [Italie] ; Angelo Antonini [Italie] ; Fabrizio Stocchi [Italie] ; Pasquale Montagna [Italie] ; Ferdinando Squitieri [Italie] ; Paolo Marini [Italie] ; Giovanni Abbruzzese [Italie] ; Giovanni Fabbrini [Italie] ; Roberto Marconi [Italie] ; Alessio Dalla Libera [Italie] ; Giorgio Trianni [Italie] ; Marco Guidi [Italie] ; Antonio De Gaetano [Italie] ; Gustavo Boff Maegawa [Brésil] ; Antonino De Leo [Italie] ; Virgilio Gallai [Italie] ; Giulia De Rosa [Italie] ; Nicola Vanacore [Italie] ; Giuseppe Meco [Italie] ; Cornelia M. Van Duijn [Pays-Bas] ; Ben A. Oostra [Pays-Bas] ; Peter Heutink [Pays-Bas] ; Vincenzo Bonifati [Pays-Bas, Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-04.
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Abstract
A multiethnic series of patients with early‐onset Parkinson's disease (EOP) was studied to assess the frequency and nature of parkin/PARK2 gene mutations and to investigate phenotype–genotype relationships. Forty‐six EOP probands with an onset age of <45 years, and 14 affected relatives were ascertained from Italy, Brazil, Cuba, and Turkey. The genetic screening included direct sequencing and exon dosage using a new, cost‐effective, real‐time polymerase chain reaction method. Mutations were found in 33% of the indexes overall, and in 53% of those with family history compatible with autosomal recessive inheritance. Fifteen parkin alterations (10 exon deletions and five point mutations) were identified, including four novel mutations: Arg402Cys, Cys418Arg, IVS11‐3C>G, and exon 8‐9‐10 deletion. Homozygous mutations, two heterozygous mutations, and a single heterozygous mutation were found in 8, 6, and 1 patient, respectively. Heterozygous exon deletions represented 28% of the mutant alleles. The patients with parkin mutations showed significantly earlier onset, longer disease duration, more frequently symmetric onset, and slower disease progression than the patients without mutations, in agreement with previous studies. This study confirms the frequent involvement of parkin and the importance of genetic testing in the diagnostic work‐up of EOP. © 2004 Movement Disorder Society
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DOI: 10.1002/mds.20343
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<author><name sortKey="Bertoli Vella, Aida M" sort="Bertoli Vella, Aida M" uniqKey="Bertoli Vella A" first="Aida M." last="Bertoli-Avella">Aida M. Bertoli-Avella</name>
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<author><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name>
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<author><name sortKey="Squitieri, Ferdinando" sort="Squitieri, Ferdinando" uniqKey="Squitieri F" first="Ferdinando" last="Squitieri">Ferdinando Squitieri</name>
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<author><name sortKey="Dalla Libera, Alessio" sort="Dalla Libera, Alessio" uniqKey="Dalla Libera A" first="Alessio" last="Dalla Libera">Alessio Dalla Libera</name>
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<author><name sortKey="De Leo, Antonino" sort="De Leo, Antonino" uniqKey="De Leo A" first="Antonino" last="De Leo">Antonino De Leo</name>
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<author><name sortKey="Vanacore, Nicola" sort="Vanacore, Nicola" uniqKey="Vanacore N" first="Nicola" last="Vanacore">Nicola Vanacore</name>
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<author><name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, University La Sapienza, Rome, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological Sciences, University La Sapienza, Rome</wicri:regionArea>
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<author><name sortKey="Van Duijn, Cornelia M" sort="Van Duijn, Cornelia M" uniqKey="Van Duijn C" first="Cornelia M." last="Van Duijn">Cornelia M. Van Duijn</name>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Genetic‐Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam</wicri:regionArea>
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<author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. Oostra</name>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Genetic‐Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam</wicri:regionArea>
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<author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
<affiliation wicri:level="1"><mods:affiliation>Section Medical Genomics, Department of Human Genetics and Department of Biological Psychology, VU University Medical Center, Amsterdam, The Netherlands</mods:affiliation>
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<wicri:regionArea>Section Medical Genomics, Department of Human Genetics and Department of Biological Psychology, VU University Medical Center, Amsterdam</wicri:regionArea>
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<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
<affiliation wicri:level="1"><mods:affiliation>Genetic‐Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Genetic‐Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam</wicri:regionArea>
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<affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, University La Sapienza, Rome, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological Sciences, University La Sapienza, Rome</wicri:regionArea>
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<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Novel parkin mutations detected in patients with early‐onset Parkinson's disease</title>
<author><name sortKey="Bertoli Vella, Aida M" sort="Bertoli Vella, Aida M" uniqKey="Bertoli Vella A" first="Aida M." last="Bertoli-Avella">Aida M. Bertoli-Avella</name>
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<country xml:lang="fr">Pays-Bas</country>
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<author><name sortKey="Giroud Enitez, Jose L" sort="Giroud Enitez, Jose L" uniqKey="Giroud Enitez J" first="José L." last="Giroud-Benitez">José L. Giroud-Benitez</name>
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<author><name sortKey="Akyol, Ali" sort="Akyol, Ali" uniqKey="Akyol A" first="Ali" last="Akyol">Ali Akyol</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Adnan Menderes University, Aydin, Turkey</mods:affiliation>
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<wicri:regionArea>Department of Neurology, Adnan Menderes University, Aydin</wicri:regionArea>
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<author><name sortKey="Barbosa, Egberto" sort="Barbosa, Egberto" uniqKey="Barbosa E" first="Egberto" last="Barbosa">Egberto Barbosa</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of São Paulo, São Paulo, Brazil</mods:affiliation>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Department of Neurology, University of São Paulo, São Paulo</wicri:regionArea>
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<author><name sortKey="Schaap, Onno" sort="Schaap, Onno" uniqKey="Schaap O" first="Onno" last="Schaap">Onno Schaap</name>
<affiliation wicri:level="1"><mods:affiliation>Genetic‐Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Genetic‐Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam</wicri:regionArea>
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<author><name sortKey="Van Der Linde, Herma C" sort="Van Der Linde, Herma C" uniqKey="Van Der Linde H" first="Herma C." last="Van Der Linde">Herma C. Van Der Linde</name>
<affiliation wicri:level="1"><mods:affiliation>Genetic‐Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Genetic‐Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam</wicri:regionArea>
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<author><name sortKey="Martignoni, Emilia" sort="Martignoni, Emilia" uniqKey="Martignoni E" first="Emilia" last="Martignoni">Emilia Martignoni</name>
<affiliation wicri:level="1"><mods:affiliation>Neurological Institute IRCCS Mondino, Pavia and A. Avogadro University, Novara, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurological Institute IRCCS Mondino, Pavia and A. Avogadro University, Novara</wicri:regionArea>
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<author><name sortKey="Lopiano, Leonardo" sort="Lopiano, Leonardo" uniqKey="Lopiano L" first="Leonardo" last="Lopiano">Leonardo Lopiano</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neuroscience, University of Turin, Turin, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neuroscience, University of Turin, Turin</wicri:regionArea>
</affiliation>
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<author><name sortKey="Lamberti, Paolo" sort="Lamberti, Paolo" uniqKey="Lamberti P" first="Paolo" last="Lamberti">Paolo Lamberti</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Bari, Bari, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology, University of Bari, Bari</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fincati, Emiliana" sort="Fincati, Emiliana" uniqKey="Fincati E" first="Emiliana" last="Fincati">Emiliana Fincati</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Verona, Verona, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology, University of Verona, Verona</wicri:regionArea>
</affiliation>
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<author><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological Sciences, University La Sapienza, Rome</wicri:regionArea>
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<author><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Bologna, Bologna, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology, University of Bologna, Bologna</wicri:regionArea>
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<author><name sortKey="Squitieri, Ferdinando" sort="Squitieri, Ferdinando" uniqKey="Squitieri F" first="Ferdinando" last="Squitieri">Ferdinando Squitieri</name>
<affiliation wicri:level="1"><mods:affiliation>Neurogenetics Unit, IRCCS Neuromed, Pozzilli, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurogenetics Unit, IRCCS Neuromed, Pozzilli</wicri:regionArea>
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<author><name sortKey="Marini, Paolo" sort="Marini, Paolo" uniqKey="Marini P" first="Paolo" last="Marini">Paolo Marini</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Florence, Florence, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology, University of Florence, Florence</wicri:regionArea>
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<author><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurosciences, Ophthalmology and Genetics, University of Genova, Genova, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurosciences, Ophthalmology and Genetics, University of Genova, Genova</wicri:regionArea>
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<author><name sortKey="Fabbrini, Giovanni" sort="Fabbrini, Giovanni" uniqKey="Fabbrini G" first="Giovanni" last="Fabbrini">Giovanni Fabbrini</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological Sciences, University La Sapienza, Rome</wicri:regionArea>
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<author><name sortKey="Marconi, Roberto" sort="Marconi, Roberto" uniqKey="Marconi R" first="Roberto" last="Marconi">Roberto Marconi</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurology Division, Hospital Misericordia, Grosseto</wicri:regionArea>
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<author><name sortKey="Dalla Libera, Alessio" sort="Dalla Libera, Alessio" uniqKey="Dalla Libera A" first="Alessio" last="Dalla Libera">Alessio Dalla Libera</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurology Division, Hospital Boldrini, Thiene</wicri:regionArea>
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<author><name sortKey="Trianni, Giorgio" sort="Trianni, Giorgio" uniqKey="Trianni G" first="Giorgio" last="Trianni">Giorgio Trianni</name>
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<wicri:regionArea>Neurology Division, Hospital of Casarano, Casarano</wicri:regionArea>
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<author><name sortKey="Guidi, Marco" sort="Guidi, Marco" uniqKey="Guidi M" first="Marco" last="Guidi">Marco Guidi</name>
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<wicri:regionArea>Neurology Division, INRCA Institute, Ancona</wicri:regionArea>
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<author><name sortKey="De Gaetano, Antonio" sort="De Gaetano, Antonio" uniqKey="De Gaetano A" first="Antonio" last="De Gaetano">Antonio De Gaetano</name>
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<author><name sortKey="Boff Maegawa, Gustavo" sort="Boff Maegawa, Gustavo" uniqKey="Boff Maegawa G" first="Gustavo" last="Boff Maegawa">Gustavo Boff Maegawa</name>
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<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Medical Genetics Service, Hospital de Clinicas, Porto Alegre</wicri:regionArea>
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<author><name sortKey="De Leo, Antonino" sort="De Leo, Antonino" uniqKey="De Leo A" first="Antonino" last="De Leo">Antonino De Leo</name>
<affiliation wicri:level="1"><mods:affiliation>Neurology Division, Hospital Piemonte, Messina, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurology Division, Hospital Piemonte, Messina</wicri:regionArea>
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<author><name sortKey="Gallai, Virgilio" sort="Gallai, Virgilio" uniqKey="Gallai V" first="Virgilio" last="Gallai">Virgilio Gallai</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Perugia, Perugia, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology, University of Perugia, Perugia</wicri:regionArea>
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<author><name sortKey="De Rosa, Giulia" sort="De Rosa, Giulia" uniqKey="De Rosa G" first="Giulia" last="De Rosa">Giulia De Rosa</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>Division of Neurology, Hospital of Ivrea, Ivrea</wicri:regionArea>
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<author><name sortKey="Vanacore, Nicola" sort="Vanacore, Nicola" uniqKey="Vanacore N" first="Nicola" last="Vanacore">Nicola Vanacore</name>
<affiliation wicri:level="1"><mods:affiliation>National Centre of Epidemiology, National Institute for Health, Rome, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>National Centre of Epidemiology, National Institute for Health, Rome</wicri:regionArea>
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</author>
<author><name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, University La Sapienza, Rome, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological Sciences, University La Sapienza, Rome</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Van Duijn, Cornelia M" sort="Van Duijn, Cornelia M" uniqKey="Van Duijn C" first="Cornelia M." last="Van Duijn">Cornelia M. Van Duijn</name>
<affiliation wicri:level="1"><mods:affiliation>Genetic‐Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Genetic‐Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam</wicri:regionArea>
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<author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. Oostra</name>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Genetic‐Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam</wicri:regionArea>
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<author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
<affiliation wicri:level="1"><mods:affiliation>Section Medical Genomics, Department of Human Genetics and Department of Biological Psychology, VU University Medical Center, Amsterdam, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Section Medical Genomics, Department of Human Genetics and Department of Biological Psychology, VU University Medical Center, Amsterdam</wicri:regionArea>
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<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Genetic‐Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam</wicri:regionArea>
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<affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, University La Sapienza, Rome, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological Sciences, University La Sapienza, Rome</wicri:regionArea>
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<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2005-04">2005-04</date>
<biblScope unit="vol">20</biblScope>
<biblScope unit="issue">4</biblScope>
<biblScope unit="page" from="424">424</biblScope>
<biblScope unit="page" to="431">431</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">E298EE56F1F95F8A86B75510A82FE58CDF5BF602</idno>
<idno type="DOI">10.1002/mds.20343</idno>
<idno type="ArticleID">MDS20343</idno>
</biblStruct>
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<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkinson's disease</term>
<term>early‐onset</term>
<term>gene dosage</term>
<term>mutation</term>
<term>parkin</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
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<front><div type="abstract" xml:lang="en">A multiethnic series of patients with early‐onset Parkinson's disease (EOP) was studied to assess the frequency and nature of parkin/PARK2 gene mutations and to investigate phenotype–genotype relationships. Forty‐six EOP probands with an onset age of <45 years, and 14 affected relatives were ascertained from Italy, Brazil, Cuba, and Turkey. The genetic screening included direct sequencing and exon dosage using a new, cost‐effective, real‐time polymerase chain reaction method. Mutations were found in 33% of the indexes overall, and in 53% of those with family history compatible with autosomal recessive inheritance. Fifteen parkin alterations (10 exon deletions and five point mutations) were identified, including four novel mutations: Arg402Cys, Cys418Arg, IVS11‐3C>G, and exon 8‐9‐10 deletion. Homozygous mutations, two heterozygous mutations, and a single heterozygous mutation were found in 8, 6, and 1 patient, respectively. Heterozygous exon deletions represented 28% of the mutant alleles. The patients with parkin mutations showed significantly earlier onset, longer disease duration, more frequently symmetric onset, and slower disease progression than the patients without mutations, in agreement with previous studies. This study confirms the frequent involvement of parkin and the importance of genetic testing in the diagnostic work‐up of EOP. © 2004 Movement Disorder Society</div>
</front>
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