Novel parkin mutations detected in patients with early‐onset Parkinson's disease
Identifieur interne : 004F00 ( Main/Merge ); précédent : 004E99; suivant : 004F01Novel 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.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Aged, Cost-Benefit Analysis, Exons (genetics), Female, Gene Library, Genotype, Humans, Intracellular Signaling Peptides and Proteins, Male, Mass Screening (methods), Middle Aged, Oncogene Proteins (genetics), Parkinson Disease (economics), Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson's disease, Phenotype, Point Mutation (genetics), Polymerase Chain Reaction, Protein Kinases (genetics), Ubiquitin-Protein Ligases (genetics), early‐onset, gene dosage, mutation, parkin.
- MESH :
- chemical , genetics : Oncogene Proteins, Protein Kinases, Ubiquitin-Protein Ligases.
- chemical : Intracellular Signaling Peptides and Proteins.
- economics : Parkinson Disease.
- epidemiology : Parkinson Disease.
- genetics : Exons, Parkinson Disease, Point Mutation.
- methods : Mass Screening.
- Adolescent, Adult, Age of Onset, Aged, Cost-Benefit Analysis, Female, Gene Library, Genotype, Humans, Male, Middle Aged, Phenotype, Polymerase Chain Reaction.
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
Url:
DOI: 10.1002/mds.20343
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<author><name sortKey="Lopiano, Leonardo" sort="Lopiano, Leonardo" uniqKey="Lopiano L" first="Leonardo" last="Lopiano">Leonardo Lopiano</name>
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<wicri:regionArea>Department of Neurology, University of Bari, Bari</wicri:regionArea>
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<author><name sortKey="Fincati, Emiliana" sort="Fincati, Emiliana" uniqKey="Fincati E" first="Emiliana" last="Fincati">Emiliana Fincati</name>
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<wicri:regionArea>Department of Neurology, University of Verona, Verona</wicri:regionArea>
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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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<wicri:regionArea>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</wicri:regionArea>
<placeName><settlement type="city">Milan</settlement>
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<author><name sortKey="Stocchi, Fabrizio" sort="Stocchi, Fabrizio" uniqKey="Stocchi F" first="Fabrizio" last="Stocchi">Fabrizio Stocchi</name>
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<wicri:regionArea>Department of Neurological Sciences, University La Sapienza, Rome</wicri:regionArea>
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</placeName>
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<author><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</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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<wicri:regionArea>Neurogenetics Unit, IRCCS Neuromed, Pozzilli</wicri:regionArea>
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</author>
<author><name sortKey="Marini, Paolo" sort="Marini, Paolo" uniqKey="Marini P" first="Paolo" last="Marini">Paolo Marini</name>
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<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>
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<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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</placeName>
</affiliation>
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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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<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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<wicri:regionArea>Neurology Division, Hospital Boldrini, Thiene</wicri:regionArea>
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</author>
<author><name sortKey="Trianni, Giorgio" sort="Trianni, Giorgio" uniqKey="Trianni G" first="Giorgio" last="Trianni">Giorgio Trianni</name>
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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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<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>
<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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<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="Gallai, Virgilio" sort="Gallai, Virgilio" uniqKey="Gallai V" first="Virgilio" last="Gallai">Virgilio Gallai</name>
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<wicri:regionArea>Department of Neurology, University of Perugia, Perugia</wicri:regionArea>
<wicri:noRegion>Perugia</wicri:noRegion>
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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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<wicri:regionArea>Division of Neurology, Hospital of Ivrea, Ivrea</wicri:regionArea>
<wicri:noRegion>Ivrea</wicri:noRegion>
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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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<wicri:regionArea>National Centre of Epidemiology, National Institute for Health, Rome</wicri:regionArea>
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</placeName>
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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="3"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological Sciences, University La Sapienza, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</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"><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>
<wicri:noRegion>Erasmus MC Rotterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. Oostra</name>
<affiliation wicri:level="1"><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>
<wicri:noRegion>Erasmus MC Rotterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
<affiliation wicri:level="3"><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>
<placeName><settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
<affiliation wicri:level="1"><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>
<wicri:noRegion>Erasmus MC Rotterdam</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological Sciences, University La Sapienza, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
</analytic>
<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>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Cost-Benefit Analysis</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Gene Library</term>
<term>Genotype</term>
<term>Humans</term>
<term>Intracellular Signaling Peptides and Proteins</term>
<term>Male</term>
<term>Mass Screening (methods)</term>
<term>Middle Aged</term>
<term>Oncogene Proteins (genetics)</term>
<term>Parkinson Disease (economics)</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson's disease</term>
<term>Phenotype</term>
<term>Point Mutation (genetics)</term>
<term>Polymerase Chain Reaction</term>
<term>Protein Kinases (genetics)</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
<term>early‐onset</term>
<term>gene dosage</term>
<term>mutation</term>
<term>parkin</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Oncogene Proteins</term>
<term>Protein Kinases</term>
<term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Intracellular Signaling Peptides and Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="economics" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term>
<term>Parkinson Disease</term>
<term>Point Mutation</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Mass Screening</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Cost-Benefit Analysis</term>
<term>Female</term>
<term>Gene Library</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Phenotype</term>
<term>Polymerase Chain Reaction</term>
</keywords>
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<langUsage><language ident="en">en</language>
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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>
</TEI>
<double doi="10.1002/mds.20343"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title 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>
</author>
<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>
</author>
<author><name sortKey="Akyol, Ali" sort="Akyol, Ali" uniqKey="Akyol A" first="Ali" last="Akyol">Ali Akyol</name>
</author>
<author><name sortKey="Barbosa, Egberto" sort="Barbosa, Egberto" uniqKey="Barbosa E" first="Egberto" last="Barbosa">Egberto Barbosa</name>
</author>
<author><name sortKey="Schaap, Onno" sort="Schaap, Onno" uniqKey="Schaap O" first="Onno" last="Schaap">Onno Schaap</name>
</author>
<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>
</author>
<author><name sortKey="Martignoni, Emilia" sort="Martignoni, Emilia" uniqKey="Martignoni E" first="Emilia" last="Martignoni">Emilia Martignoni</name>
</author>
<author><name sortKey="Lopiano, Leonardo" sort="Lopiano, Leonardo" uniqKey="Lopiano L" first="Leonardo" last="Lopiano">Leonardo Lopiano</name>
</author>
<author><name sortKey="Lamberti, Paolo" sort="Lamberti, Paolo" uniqKey="Lamberti P" first="Paolo" last="Lamberti">Paolo Lamberti</name>
</author>
<author><name sortKey="Fincati, Emiliana" sort="Fincati, Emiliana" uniqKey="Fincati E" first="Emiliana" last="Fincati">Emiliana Fincati</name>
</author>
<author><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name>
</author>
<author><name sortKey="Stocchi, Fabrizio" sort="Stocchi, Fabrizio" uniqKey="Stocchi F" first="Fabrizio" last="Stocchi">Fabrizio Stocchi</name>
</author>
<author><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name>
</author>
<author><name sortKey="Squitieri, Ferdinando" sort="Squitieri, Ferdinando" uniqKey="Squitieri F" first="Ferdinando" last="Squitieri">Ferdinando Squitieri</name>
</author>
<author><name sortKey="Marini, Paolo" sort="Marini, Paolo" uniqKey="Marini P" first="Paolo" last="Marini">Paolo Marini</name>
</author>
<author><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</name>
</author>
<author><name sortKey="Fabbrini, Giovanni" sort="Fabbrini, Giovanni" uniqKey="Fabbrini G" first="Giovanni" last="Fabbrini">Giovanni Fabbrini</name>
</author>
<author><name sortKey="Marconi, Roberto" sort="Marconi, Roberto" uniqKey="Marconi R" first="Roberto" last="Marconi">Roberto Marconi</name>
</author>
<author><name sortKey="Dalla Libera, Alessio" sort="Dalla Libera, Alessio" uniqKey="Dalla Libera A" first="Alessio" last="Dalla Libera">Alessio Dalla Libera</name>
</author>
<author><name sortKey="Trianni, Giorgio" sort="Trianni, Giorgio" uniqKey="Trianni G" first="Giorgio" last="Trianni">Giorgio Trianni</name>
</author>
<author><name sortKey="Guidi, Marco" sort="Guidi, Marco" uniqKey="Guidi M" first="Marco" last="Guidi">Marco Guidi</name>
</author>
<author><name sortKey="De Gaetano, Antonio" sort="De Gaetano, Antonio" uniqKey="De Gaetano A" first="Antonio" last="De Gaetano">Antonio De Gaetano</name>
</author>
<author><name sortKey="Boff Maegawa, Gustavo" sort="Boff Maegawa, Gustavo" uniqKey="Boff Maegawa G" first="Gustavo" last="Boff Maegawa">Gustavo Boff Maegawa</name>
</author>
<author><name sortKey="De Leo, Antonino" sort="De Leo, Antonino" uniqKey="De Leo A" first="Antonino" last="De Leo">Antonino De Leo</name>
</author>
<author><name sortKey="Gallai, Virgilio" sort="Gallai, Virgilio" uniqKey="Gallai V" first="Virgilio" last="Gallai">Virgilio Gallai</name>
</author>
<author><name sortKey="De Rosa, Giulia" sort="De Rosa, Giulia" uniqKey="De Rosa G" first="Giulia" last="De Rosa">Giulia De Rosa</name>
</author>
<author><name sortKey="Vanacore, Nicola" sort="Vanacore, Nicola" uniqKey="Vanacore N" first="Nicola" last="Vanacore">Nicola Vanacore</name>
</author>
<author><name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name>
</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>
</author>
<author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. Oostra</name>
</author>
<author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
</author>
<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
</author>
</titleStmt>
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<idno type="doi">10.1002/mds.20343</idno>
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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>
<affiliation wicri:level="1"><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>
<wicri:noRegion>Erasmus MC Rotterdam</wicri:noRegion>
</affiliation>
</author>
<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>
<affiliation wicri:level="1"><country xml:lang="fr">Cuba</country>
<wicri:regionArea>University Hospital Carlos J. Finlay, Havana</wicri:regionArea>
<wicri:noRegion>Havana</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Akyol, Ali" sort="Akyol, Ali" uniqKey="Akyol A" first="Ali" last="Akyol">Ali Akyol</name>
<affiliation wicri:level="1"><country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Neurology, Adnan Menderes University, Aydin</wicri:regionArea>
<wicri:noRegion>Aydin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Barbosa, Egberto" sort="Barbosa, Egberto" uniqKey="Barbosa E" first="Egberto" last="Barbosa">Egberto Barbosa</name>
<affiliation wicri:level="4"><country xml:lang="fr">Brésil</country>
<wicri:regionArea>Department of Neurology, University of São Paulo, São Paulo</wicri:regionArea>
<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
</placeName>
<orgName type="university">Université de São Paulo</orgName>
</affiliation>
</author>
<author><name sortKey="Schaap, Onno" sort="Schaap, Onno" uniqKey="Schaap O" first="Onno" last="Schaap">Onno Schaap</name>
<affiliation wicri:level="1"><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>
<wicri:noRegion>Erasmus MC Rotterdam</wicri:noRegion>
</affiliation>
</author>
<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"><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>
<wicri:noRegion>Erasmus MC Rotterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Martignoni, Emilia" sort="Martignoni, Emilia" uniqKey="Martignoni E" first="Emilia" last="Martignoni">Emilia Martignoni</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurological Institute IRCCS Mondino, Pavia and A. Avogadro University, Novara</wicri:regionArea>
<wicri:noRegion>Novara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lopiano, Leonardo" sort="Lopiano, Leonardo" uniqKey="Lopiano L" first="Leonardo" last="Lopiano">Leonardo Lopiano</name>
<affiliation wicri:level="3"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neuroscience, University of Turin, Turin</wicri:regionArea>
<placeName><settlement type="city">Turin</settlement>
<region type="région" nuts="2">Piémont</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lamberti, Paolo" sort="Lamberti, Paolo" uniqKey="Lamberti P" first="Paolo" last="Lamberti">Paolo Lamberti</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology, University of Bari, Bari</wicri:regionArea>
<wicri:noRegion>Bari</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fincati, Emiliana" sort="Fincati, Emiliana" uniqKey="Fincati E" first="Emiliana" last="Fincati">Emiliana Fincati</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology, University of Verona, Verona</wicri:regionArea>
<wicri:noRegion>Verona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name>
<affiliation wicri:level="3"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</wicri:regionArea>
<placeName><settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Stocchi, Fabrizio" sort="Stocchi, Fabrizio" uniqKey="Stocchi F" first="Fabrizio" last="Stocchi">Fabrizio Stocchi</name>
<affiliation wicri:level="3"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological Sciences, University La Sapienza, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology, University of Bologna, Bologna</wicri:regionArea>
<wicri:noRegion>Bologna</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Squitieri, Ferdinando" sort="Squitieri, Ferdinando" uniqKey="Squitieri F" first="Ferdinando" last="Squitieri">Ferdinando Squitieri</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurogenetics Unit, IRCCS Neuromed, Pozzilli</wicri:regionArea>
<wicri:noRegion>Pozzilli</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Marini, Paolo" sort="Marini, Paolo" uniqKey="Marini P" first="Paolo" last="Marini">Paolo Marini</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology, University of Florence, Florence</wicri:regionArea>
<wicri:noRegion>Florence</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurosciences, Ophthalmology and Genetics, University of Genova, Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fabbrini, Giovanni" sort="Fabbrini, Giovanni" uniqKey="Fabbrini G" first="Giovanni" last="Fabbrini">Giovanni Fabbrini</name>
<affiliation wicri:level="3"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological Sciences, University La Sapienza, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Marconi, Roberto" sort="Marconi, Roberto" uniqKey="Marconi R" first="Roberto" last="Marconi">Roberto Marconi</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurology Division, Hospital Misericordia, Grosseto</wicri:regionArea>
<wicri:noRegion>Grosseto</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dalla Libera, Alessio" sort="Dalla Libera, Alessio" uniqKey="Dalla Libera A" first="Alessio" last="Dalla Libera">Alessio Dalla Libera</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurology Division, Hospital Boldrini, Thiene</wicri:regionArea>
<wicri:noRegion>Thiene</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Trianni, Giorgio" sort="Trianni, Giorgio" uniqKey="Trianni G" first="Giorgio" last="Trianni">Giorgio Trianni</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurology Division, Hospital of Casarano, Casarano</wicri:regionArea>
<wicri:noRegion>Casarano</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Guidi, Marco" sort="Guidi, Marco" uniqKey="Guidi M" first="Marco" last="Guidi">Marco Guidi</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurology Division, INRCA Institute, Ancona</wicri:regionArea>
<wicri:noRegion>Ancona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Gaetano, Antonio" sort="De Gaetano, Antonio" uniqKey="De Gaetano A" first="Antonio" last="De Gaetano">Antonio De Gaetano</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurology Division, Hospital of Castrovillari, Castrovillari</wicri:regionArea>
<wicri:noRegion>Castrovillari</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boff Maegawa, Gustavo" sort="Boff Maegawa, Gustavo" uniqKey="Boff Maegawa G" first="Gustavo" last="Boff Maegawa">Gustavo Boff Maegawa</name>
<affiliation wicri:level="3"><country xml:lang="fr">Brésil</country>
<wicri:regionArea>Medical Genetics Service, Hospital de Clinicas, Porto Alegre</wicri:regionArea>
<placeName><settlement type="city">Porto Alegre</settlement>
<region type="state">Rio Grande do Sul</region>
</placeName>
</affiliation>
</author>
<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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurology Division, Hospital Piemonte, Messina</wicri:regionArea>
<wicri:noRegion>Messina</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gallai, Virgilio" sort="Gallai, Virgilio" uniqKey="Gallai V" first="Virgilio" last="Gallai">Virgilio Gallai</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology, University of Perugia, Perugia</wicri:regionArea>
<wicri:noRegion>Perugia</wicri:noRegion>
</affiliation>
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<wicri:regionArea>Department of Neurological Sciences, University La Sapienza, Rome</wicri:regionArea>
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</affiliation>
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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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<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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<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>
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<region nuts="2" type="province">Hollande-Septentrionale</region>
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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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<wicri:regionArea>Genetic‐Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam</wicri:regionArea>
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<series><title level="j">Movement Disorders</title>
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<pubPlace>Hoboken</pubPlace>
<date type="published" when="2005-04">2005-04</date>
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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>
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<PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Novel parkin mutations detected in patients with early-onset Parkinson's disease.</title>
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<author><name sortKey="Giroud Benitez, Jose L" sort="Giroud Benitez, Jose L" uniqKey="Giroud Benitez 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>
</author>
<author><name sortKey="Barbosa, Egberto" sort="Barbosa, Egberto" uniqKey="Barbosa E" first="Egberto" last="Barbosa">Egberto Barbosa</name>
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<author><name sortKey="Schaap, Onno" sort="Schaap, Onno" uniqKey="Schaap O" first="Onno" last="Schaap">Onno Schaap</name>
</author>
<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>
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</author>
<author><name sortKey="Lopiano, Leonardo" sort="Lopiano, Leonardo" uniqKey="Lopiano L" first="Leonardo" last="Lopiano">Leonardo Lopiano</name>
</author>
<author><name sortKey="Lamberti, Paolo" sort="Lamberti, Paolo" uniqKey="Lamberti P" first="Paolo" last="Lamberti">Paolo Lamberti</name>
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<author><name sortKey="Fincati, Emiliana" sort="Fincati, Emiliana" uniqKey="Fincati E" first="Emiliana" last="Fincati">Emiliana Fincati</name>
</author>
<author><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name>
</author>
<author><name sortKey="Stocchi, Fabrizio" sort="Stocchi, Fabrizio" uniqKey="Stocchi F" first="Fabrizio" last="Stocchi">Fabrizio Stocchi</name>
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<author><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name>
</author>
<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="Marini, Paolo" sort="Marini, Paolo" uniqKey="Marini P" first="Paolo" last="Marini">Paolo Marini</name>
</author>
<author><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</name>
</author>
<author><name sortKey="Fabbrini, Giovanni" sort="Fabbrini, Giovanni" uniqKey="Fabbrini G" first="Giovanni" last="Fabbrini">Giovanni Fabbrini</name>
</author>
<author><name sortKey="Marconi, Roberto" sort="Marconi, Roberto" uniqKey="Marconi R" first="Roberto" last="Marconi">Roberto Marconi</name>
</author>
<author><name sortKey="Dalla Libera, Alessio" sort="Dalla Libera, Alessio" uniqKey="Dalla Libera A" first="Alessio" last="Dalla Libera">Alessio Dalla Libera</name>
</author>
<author><name sortKey="Trianni, Giorgio" sort="Trianni, Giorgio" uniqKey="Trianni G" first="Giorgio" last="Trianni">Giorgio Trianni</name>
</author>
<author><name sortKey="Guidi, Marco" sort="Guidi, Marco" uniqKey="Guidi M" first="Marco" last="Guidi">Marco Guidi</name>
</author>
<author><name sortKey="De Gaetano, Antonio" sort="De Gaetano, Antonio" uniqKey="De Gaetano A" first="Antonio" last="De Gaetano">Antonio De Gaetano</name>
</author>
<author><name sortKey="Boff Maegawa, Gustavo" sort="Boff Maegawa, Gustavo" uniqKey="Boff Maegawa G" first="Gustavo" last="Boff Maegawa">Gustavo Boff Maegawa</name>
</author>
<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="De Rosa, Giulia" sort="De Rosa, Giulia" uniqKey="De Rosa G" first="Giulia" last="De Rosa">Giulia De Rosa</name>
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<author><name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name>
</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>
</author>
<author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A" last="Oostra">Ben A. Oostra</name>
</author>
<author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
</author>
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<author><name sortKey="Bertoli Avella, Aida M" sort="Bertoli Avella, Aida M" uniqKey="Bertoli Avella A" first="Aida M" last="Bertoli-Avella">Aida M. Bertoli-Avella</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>
<wicri:noRegion>Erasmus MC Rotterdam</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Giroud Benitez, Jose L" sort="Giroud Benitez, Jose L" uniqKey="Giroud Benitez J" first="José L" last="Giroud-Benitez">José L. Giroud-Benitez</name>
</author>
<author><name sortKey="Akyol, Ali" sort="Akyol, Ali" uniqKey="Akyol A" first="Ali" last="Akyol">Ali Akyol</name>
</author>
<author><name sortKey="Barbosa, Egberto" sort="Barbosa, Egberto" uniqKey="Barbosa E" first="Egberto" last="Barbosa">Egberto Barbosa</name>
</author>
<author><name sortKey="Schaap, Onno" sort="Schaap, Onno" uniqKey="Schaap O" first="Onno" last="Schaap">Onno Schaap</name>
</author>
<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>
</author>
<author><name sortKey="Martignoni, Emilia" sort="Martignoni, Emilia" uniqKey="Martignoni E" first="Emilia" last="Martignoni">Emilia Martignoni</name>
</author>
<author><name sortKey="Lopiano, Leonardo" sort="Lopiano, Leonardo" uniqKey="Lopiano L" first="Leonardo" last="Lopiano">Leonardo Lopiano</name>
</author>
<author><name sortKey="Lamberti, Paolo" sort="Lamberti, Paolo" uniqKey="Lamberti P" first="Paolo" last="Lamberti">Paolo Lamberti</name>
</author>
<author><name sortKey="Fincati, Emiliana" sort="Fincati, Emiliana" uniqKey="Fincati E" first="Emiliana" last="Fincati">Emiliana Fincati</name>
</author>
<author><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name>
</author>
<author><name sortKey="Stocchi, Fabrizio" sort="Stocchi, Fabrizio" uniqKey="Stocchi F" first="Fabrizio" last="Stocchi">Fabrizio Stocchi</name>
</author>
<author><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name>
</author>
<author><name sortKey="Squitieri, Ferdinando" sort="Squitieri, Ferdinando" uniqKey="Squitieri F" first="Ferdinando" last="Squitieri">Ferdinando Squitieri</name>
</author>
<author><name sortKey="Marini, Paolo" sort="Marini, Paolo" uniqKey="Marini P" first="Paolo" last="Marini">Paolo Marini</name>
</author>
<author><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</name>
</author>
<author><name sortKey="Fabbrini, Giovanni" sort="Fabbrini, Giovanni" uniqKey="Fabbrini G" first="Giovanni" last="Fabbrini">Giovanni Fabbrini</name>
</author>
<author><name sortKey="Marconi, Roberto" sort="Marconi, Roberto" uniqKey="Marconi R" first="Roberto" last="Marconi">Roberto Marconi</name>
</author>
<author><name sortKey="Dalla Libera, Alessio" sort="Dalla Libera, Alessio" uniqKey="Dalla Libera A" first="Alessio" last="Dalla Libera">Alessio Dalla Libera</name>
</author>
<author><name sortKey="Trianni, Giorgio" sort="Trianni, Giorgio" uniqKey="Trianni G" first="Giorgio" last="Trianni">Giorgio Trianni</name>
</author>
<author><name sortKey="Guidi, Marco" sort="Guidi, Marco" uniqKey="Guidi M" first="Marco" last="Guidi">Marco Guidi</name>
</author>
<author><name sortKey="De Gaetano, Antonio" sort="De Gaetano, Antonio" uniqKey="De Gaetano A" first="Antonio" last="De Gaetano">Antonio De Gaetano</name>
</author>
<author><name sortKey="Boff Maegawa, Gustavo" sort="Boff Maegawa, Gustavo" uniqKey="Boff Maegawa G" first="Gustavo" last="Boff Maegawa">Gustavo Boff Maegawa</name>
</author>
<author><name sortKey="De Leo, Antonino" sort="De Leo, Antonino" uniqKey="De Leo A" first="Antonino" last="De Leo">Antonino De Leo</name>
</author>
<author><name sortKey="Gallai, Virgilio" sort="Gallai, Virgilio" uniqKey="Gallai V" first="Virgilio" last="Gallai">Virgilio Gallai</name>
</author>
<author><name sortKey="De Rosa, Giulia" sort="De Rosa, Giulia" uniqKey="De Rosa G" first="Giulia" last="De Rosa">Giulia De Rosa</name>
</author>
<author><name sortKey="Vanacore, Nicola" sort="Vanacore, Nicola" uniqKey="Vanacore N" first="Nicola" last="Vanacore">Nicola Vanacore</name>
</author>
<author><name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name>
</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>
</author>
<author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A" last="Oostra">Ben A. Oostra</name>
</author>
<author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
</author>
<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2005" type="published">2005</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Cost-Benefit Analysis</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Gene Library</term>
<term>Genotype</term>
<term>Humans</term>
<term>Intracellular Signaling Peptides and Proteins</term>
<term>Male</term>
<term>Mass Screening (methods)</term>
<term>Middle Aged</term>
<term>Oncogene Proteins (genetics)</term>
<term>Parkinson Disease (economics)</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Phenotype</term>
<term>Point Mutation (genetics)</term>
<term>Polymerase Chain Reaction</term>
<term>Protein Kinases (genetics)</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Oncogene Proteins</term>
<term>Protein Kinases</term>
<term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Intracellular Signaling Peptides and Proteins</term>
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</keywords>
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</keywords>
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</keywords>
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<term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Cost-Benefit Analysis</term>
<term>Female</term>
<term>Gene Library</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Phenotype</term>
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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.</div>
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