DNAJC13 p.Asn855Ser mutation screening in Parkinson’s disease and pathologically confirmed Lewy body disease patients
Identifieur interne : 000891 ( Pmc/Corpus ); précédent : 000890; suivant : 000892DNAJC13 p.Asn855Ser mutation screening in Parkinson’s disease and pathologically confirmed Lewy body disease patients
Auteurs : Oswaldo Lorenzo-Betancor ; Kotaro Ogaki ; Alexandra I. Soto-Ortolaza ; Catherine Labbé ; Ronald L. Walton ; Audrey J. Strongosky ; Jay A. Van Gerpen ; Ryan J. Uitti ; Pamela Mclean ; Wolfdieter Springer ; Joanna Siuda ; Grzegorz Opala ; Anna Krygowska-Wajs ; Maria Barcikowska ; Krzysztof Czyzewski ; Allan Mccarthy ; Timothy Lynch ; Andreas Puschmann ; Irena Rektorová ; Yanosh Sanotsky ; Carles Vilarino-Guell ; Matthew J. Farrer ; Tanis J. Ferman ; Bradley F. Boeve ; Ronald C. Petersen ; Joseph E. Parisi ; Neill R. Graff-Radford ; Dennis W. Dickson ; Zbigniew K. Wszolek ; Owen A. RossSource :
- European journal of neurology : the official journal of the European Federation of Neurological Societies [ 1351-5101 ] ; 2015.
Abstract
Recently, a novel mutation in exon 24 of
Url:
DOI: 10.1111/ene.12770
PubMed: 26278106
PubMed Central: 4542017
Links to Exploration step
PMC:4542017Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">DNAJC13 p.Asn855Ser mutation screening in Parkinson’s disease and pathologically confirmed Lewy body disease patients</title><author><name sortKey="Lorenzo Betancor, Oswaldo" sort="Lorenzo Betancor, Oswaldo" uniqKey="Lorenzo Betancor O" first="Oswaldo" last="Lorenzo-Betancor">Oswaldo Lorenzo-Betancor</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Labbe, Catherine" sort="Labbe, Catherine" uniqKey="Labbe C" first="Catherine" last="Labbé">Catherine Labbé</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Walton, Ronald L" sort="Walton, Ronald L" uniqKey="Walton R" first="Ronald L." last="Walton">Ronald L. Walton</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Strongosky, Audrey J" sort="Strongosky, Audrey J" uniqKey="Strongosky A" first="Audrey J." last="Strongosky">Audrey J. Strongosky</name><affiliation><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A." last="Van Gerpen">Jay A. Van Gerpen</name><affiliation><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><affiliation><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Mclean, Pamela" sort="Mclean, Pamela" uniqKey="Mclean P" first="Pamela" last="Mclean">Pamela Mclean</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Springer, Wolfdieter" sort="Springer, Wolfdieter" uniqKey="Springer W" first="Wolfdieter" last="Springer">Wolfdieter Springer</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Siuda, Joanna" sort="Siuda, Joanna" uniqKey="Siuda J" first="Joanna" last="Siuda">Joanna Siuda</name><affiliation><nlm:aff id="A3">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff></affiliation></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name><affiliation><nlm:aff id="A3">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff></affiliation></author><author><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name><affiliation><nlm:aff id="A4">Department of Neurology, Jagiellonian University, Krakow, Poland</nlm:aff></affiliation></author><author><name sortKey="Barcikowska, Maria" sort="Barcikowska, Maria" uniqKey="Barcikowska M" first="Maria" last="Barcikowska">Maria Barcikowska</name><affiliation><nlm:aff id="A5">Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland</nlm:aff></affiliation></author><author><name sortKey="Czyzewski, Krzysztof" sort="Czyzewski, Krzysztof" uniqKey="Czyzewski K" first="Krzysztof" last="Czyzewski">Krzysztof Czyzewski</name><affiliation><nlm:aff id="A6">Department of Neurology, Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland</nlm:aff></affiliation></author><author><name sortKey="Mccarthy, Allan" sort="Mccarthy, Allan" uniqKey="Mccarthy A" first="Allan" last="Mccarthy">Allan Mccarthy</name><affiliation><nlm:aff id="A7">Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation><nlm:aff id="A7">Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name><affiliation><nlm:aff id="A8">Lund University, Department of Clinical Sciences, Lund, Neurology, Sweden</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Department of Neurology, Skåne University Hospital, Sweden</nlm:aff></affiliation></author><author><name sortKey="Rektorova, Irena" sort="Rektorova, Irena" uniqKey="Rektorova I" first="Irena" last="Rektorová">Irena Rektorová</name><affiliation><nlm:aff id="A10">Masaryk University, Central European Institute of Technology and First Department of Neurology, School of Medicine, Brno, Czech Republic</nlm:aff></affiliation></author><author><name sortKey="Sanotsky, Yanosh" sort="Sanotsky, Yanosh" uniqKey="Sanotsky Y" first="Yanosh" last="Sanotsky">Yanosh Sanotsky</name><affiliation><nlm:aff id="A11">Lviv Regional Clinical Hospital, Lviv, Ukraine</nlm:aff></affiliation></author><author><name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Guell">Carles Vilarino-Guell</name><affiliation><nlm:aff id="A12">Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><nlm:aff id="A12">Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Ferman, Tanis J" sort="Ferman, Tanis J" uniqKey="Ferman T" first="Tanis J." last="Ferman">Tanis J. Ferman</name><affiliation><nlm:aff id="A13">Department of Psychiatry and Psychology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F." last="Boeve">Bradley F. Boeve</name><affiliation><nlm:aff id="A14">Department of Neurology, Mayo Clinic, Rochester, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C." last="Petersen">Ronald C. Petersen</name><affiliation><nlm:aff id="A14">Department of Neurology, Mayo Clinic, Rochester, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Parisi, Joseph E" sort="Parisi, Joseph E" uniqKey="Parisi J" first="Joseph E." last="Parisi">Joseph E. Parisi</name><affiliation><nlm:aff id="A15">Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name><affiliation><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><affiliation><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Department of Pathology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26278106</idno><idno type="pmc">4542017</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4542017</idno><idno type="RBID">PMC:4542017</idno><idno type="doi">10.1111/ene.12770</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000891</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000891</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">DNAJC13 p.Asn855Ser mutation screening in Parkinson’s disease and pathologically confirmed Lewy body disease patients</title><author><name sortKey="Lorenzo Betancor, Oswaldo" sort="Lorenzo Betancor, Oswaldo" uniqKey="Lorenzo Betancor O" first="Oswaldo" last="Lorenzo-Betancor">Oswaldo Lorenzo-Betancor</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Labbe, Catherine" sort="Labbe, Catherine" uniqKey="Labbe C" first="Catherine" last="Labbé">Catherine Labbé</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Walton, Ronald L" sort="Walton, Ronald L" uniqKey="Walton R" first="Ronald L." last="Walton">Ronald L. Walton</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Strongosky, Audrey J" sort="Strongosky, Audrey J" uniqKey="Strongosky A" first="Audrey J." last="Strongosky">Audrey J. Strongosky</name><affiliation><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A." last="Van Gerpen">Jay A. Van Gerpen</name><affiliation><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><affiliation><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Mclean, Pamela" sort="Mclean, Pamela" uniqKey="Mclean P" first="Pamela" last="Mclean">Pamela Mclean</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Springer, Wolfdieter" sort="Springer, Wolfdieter" uniqKey="Springer W" first="Wolfdieter" last="Springer">Wolfdieter Springer</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Siuda, Joanna" sort="Siuda, Joanna" uniqKey="Siuda J" first="Joanna" last="Siuda">Joanna Siuda</name><affiliation><nlm:aff id="A3">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff></affiliation></author><author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name><affiliation><nlm:aff id="A3">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff></affiliation></author><author><name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name><affiliation><nlm:aff id="A4">Department of Neurology, Jagiellonian University, Krakow, Poland</nlm:aff></affiliation></author><author><name sortKey="Barcikowska, Maria" sort="Barcikowska, Maria" uniqKey="Barcikowska M" first="Maria" last="Barcikowska">Maria Barcikowska</name><affiliation><nlm:aff id="A5">Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland</nlm:aff></affiliation></author><author><name sortKey="Czyzewski, Krzysztof" sort="Czyzewski, Krzysztof" uniqKey="Czyzewski K" first="Krzysztof" last="Czyzewski">Krzysztof Czyzewski</name><affiliation><nlm:aff id="A6">Department of Neurology, Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland</nlm:aff></affiliation></author><author><name sortKey="Mccarthy, Allan" sort="Mccarthy, Allan" uniqKey="Mccarthy A" first="Allan" last="Mccarthy">Allan Mccarthy</name><affiliation><nlm:aff id="A7">Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation><nlm:aff id="A7">Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland</nlm:aff></affiliation></author><author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name><affiliation><nlm:aff id="A8">Lund University, Department of Clinical Sciences, Lund, Neurology, Sweden</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Department of Neurology, Skåne University Hospital, Sweden</nlm:aff></affiliation></author><author><name sortKey="Rektorova, Irena" sort="Rektorova, Irena" uniqKey="Rektorova I" first="Irena" last="Rektorová">Irena Rektorová</name><affiliation><nlm:aff id="A10">Masaryk University, Central European Institute of Technology and First Department of Neurology, School of Medicine, Brno, Czech Republic</nlm:aff></affiliation></author><author><name sortKey="Sanotsky, Yanosh" sort="Sanotsky, Yanosh" uniqKey="Sanotsky Y" first="Yanosh" last="Sanotsky">Yanosh Sanotsky</name><affiliation><nlm:aff id="A11">Lviv Regional Clinical Hospital, Lviv, Ukraine</nlm:aff></affiliation></author><author><name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Guell">Carles Vilarino-Guell</name><affiliation><nlm:aff id="A12">Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><nlm:aff id="A12">Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Ferman, Tanis J" sort="Ferman, Tanis J" uniqKey="Ferman T" first="Tanis J." last="Ferman">Tanis J. Ferman</name><affiliation><nlm:aff id="A13">Department of Psychiatry and Psychology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F." last="Boeve">Bradley F. Boeve</name><affiliation><nlm:aff id="A14">Department of Neurology, Mayo Clinic, Rochester, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C." last="Petersen">Ronald C. Petersen</name><affiliation><nlm:aff id="A14">Department of Neurology, Mayo Clinic, Rochester, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Parisi, Joseph E" sort="Parisi, Joseph E" uniqKey="Parisi J" first="Joseph E." last="Parisi">Joseph E. Parisi</name><affiliation><nlm:aff id="A15">Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name><affiliation><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><affiliation><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Department of Pathology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff></affiliation></author></analytic><series><title level="j">European journal of neurology : the official journal of the European Federation of Neurological Societies</title><idno type="ISSN">1351-5101</idno><idno type="eISSN">1468-1331</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Recently, a novel mutation in exon 24 of <italic>DNAJC13</italic> gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson’s disease (PD) in a multi-incident Mennonite family. In the present study we have sequenced the mutation containing exon of the <italic>DNAJC13</italic> gene in a Caucasian series consisting of 1938 patients with clinical PD and 838 pathologically diagnosed Lewy Body Disease (LBD). Our sequence analysis did not identify any coding variants in exon 24 of <italic>DNAJC13</italic>. Two previously described variants in intron 23 (rs200204728 and rs2369796) were observed. Our results indicate that the region surrounding the DNAJC13 p.Asn855Ser substitution is highly conserved and mutations in this exon are not a common cause of PD or LBD among Caucasian populations.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9506311</journal-id><journal-id journal-id-type="pubmed-jr-id">20870</journal-id><journal-id journal-id-type="nlm-ta">Eur J Neurol</journal-id><journal-id journal-id-type="iso-abbrev">Eur. J. Neurol.</journal-id><journal-title-group><journal-title>European journal of neurology : the official journal of the European Federation of Neurological Societies</journal-title></journal-title-group><issn pub-type="ppub">1351-5101</issn><issn pub-type="epub">1468-1331</issn></journal-meta><article-meta><article-id pub-id-type="pmid">26278106</article-id><article-id pub-id-type="pmc">4542017</article-id><article-id pub-id-type="doi">10.1111/ene.12770</article-id><article-id pub-id-type="manuscript">NIHMS692188</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>DNAJC13 p.Asn855Ser mutation screening in Parkinson’s disease and pathologically confirmed Lewy body disease patients</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Lorenzo-Betancor</surname><given-names>Oswaldo</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Ogaki</surname><given-names>Kotaro</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Soto-Ortolaza</surname><given-names>Alexandra I.</given-names></name><degrees>BSc</degrees><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Labbé</surname><given-names>Catherine</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Walton</surname><given-names>Ronald L.</given-names></name><degrees>BSc</degrees><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Strongosky</surname><given-names>Audrey J.</given-names></name><degrees>BA</degrees><xref ref-type="aff" rid="A2">b</xref></contrib><contrib contrib-type="author"><name><surname>van Gerpen</surname><given-names>Jay A.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A2">b</xref></contrib><contrib contrib-type="author"><name><surname>Uitti</surname><given-names>Ryan J.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A2">b</xref></contrib><contrib contrib-type="author"><name><surname>McLean</surname><given-names>Pamela</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Springer</surname><given-names>Wolfdieter</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">a</xref></contrib><contrib contrib-type="author"><name><surname>Siuda</surname><given-names>Joanna</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A3">c</xref></contrib><contrib contrib-type="author"><name><surname>Opala</surname><given-names>Grzegorz</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A3">c</xref></contrib><contrib contrib-type="author"><name><surname>Krygowska-Wajs</surname><given-names>Anna</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A4">d</xref></contrib><contrib contrib-type="author"><name><surname>Barcikowska</surname><given-names>Maria</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A5">e</xref></contrib><contrib contrib-type="author"><name><surname>Czyzewski</surname><given-names>Krzysztof</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A6">f</xref></contrib><contrib contrib-type="author"><name><surname>McCarthy</surname><given-names>Allan</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A7">g</xref></contrib><contrib contrib-type="author"><name><surname>Lynch</surname><given-names>Timothy</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A7">g</xref></contrib><contrib contrib-type="author"><name><surname>Puschmann</surname><given-names>Andreas</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A8">h</xref><xref ref-type="aff" rid="A9">i</xref></contrib><contrib contrib-type="author"><name><surname>Rektorová</surname><given-names>Irena</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A10">j</xref></contrib><contrib contrib-type="author"><name><surname>Sanotsky</surname><given-names>Yanosh</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A11">k</xref></contrib><contrib contrib-type="author"><name><surname>Vilarino-Guell</surname><given-names>Carles</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A12">l</xref></contrib><contrib contrib-type="author"><name><surname>Farrer</surname><given-names>Matthew J.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A12">l</xref></contrib><contrib contrib-type="author"><name><surname>Ferman</surname><given-names>Tanis J.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A13">m</xref></contrib><contrib contrib-type="author"><name><surname>Boeve</surname><given-names>Bradley F.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A14">n</xref></contrib><contrib contrib-type="author"><name><surname>Petersen</surname><given-names>Ronald C.</given-names></name><degrees>MD, PhD</degrees><xref ref-type="aff" rid="A14">n</xref></contrib><contrib contrib-type="author"><name><surname>Parisi</surname><given-names>Joseph E.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A15">o</xref></contrib><contrib contrib-type="author"><name><surname>Graff-Radford</surname><given-names>Neill R.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A2">b</xref></contrib><contrib contrib-type="author"><name><surname>Dickson</surname><given-names>Dennis W.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A2">b</xref><xref ref-type="aff" rid="A16">p</xref></contrib><contrib contrib-type="author"><name><surname>Wszolek</surname><given-names>Zbigniew K.</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A2">b</xref></contrib><contrib contrib-type="author"><name><surname>Ross</surname><given-names>Owen A.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="A1">a</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib></contrib-group><aff id="A1"><label>a</label>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</aff><aff id="A2"><label>b</label>Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</aff><aff id="A3"><label>c</label>Department of Neurology, Medical University of Silesia, Katowice, Poland</aff><aff id="A4"><label>d</label>Department of Neurology, Jagiellonian University, Krakow, Poland</aff><aff id="A5"><label>e</label>Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland</aff><aff id="A6"><label>f</label>Department of Neurology, Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland</aff><aff id="A7"><label>g</label>Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland</aff><aff id="A8"><label>h</label>Lund University, Department of Clinical Sciences, Lund, Neurology, Sweden</aff><aff id="A9"><label>i</label>Department of Neurology, Skåne University Hospital, Sweden</aff><aff id="A10"><label>j</label>Masaryk University, Central European Institute of Technology and First Department of Neurology, School of Medicine, Brno, Czech Republic</aff><aff id="A11"><label>k</label>Lviv Regional Clinical Hospital, Lviv, Ukraine</aff><aff id="A12"><label>l</label>Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada</aff><aff id="A13"><label>m</label>Department of Psychiatry and Psychology, Mayo Clinic, Jacksonville, FL, USA</aff><aff id="A14"><label>n</label>Department of Neurology, Mayo Clinic, Rochester, MN, USA</aff><aff id="A15"><label>o</label>Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA</aff><aff id="A16"><label>p</label>Department of Pathology, Mayo Clinic, Jacksonville, Florida, USA</aff><author-notes><corresp id="FN1">Address correspondence and reprint requests to: Owen A. Ross, PhD, Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA. Tel.: +1 904 953 6280, Fax: +1 904 953 7370, <email>ross.owen@mayo.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>20</day><month>5</month><year>2015</year></pub-date><pub-date pub-type="ppub"><month>9</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>9</month><year>2016</year></pub-date><volume>22</volume><issue>9</issue><fpage>1323</fpage><lpage>1325</lpage><pmc-comment>elocation-id from pubmed: 10.1111/ene.12770</pmc-comment>
<abstract><p id="P1">Recently, a novel mutation in exon 24 of <italic>DNAJC13</italic> gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson’s disease (PD) in a multi-incident Mennonite family. In the present study we have sequenced the mutation containing exon of the <italic>DNAJC13</italic> gene in a Caucasian series consisting of 1938 patients with clinical PD and 838 pathologically diagnosed Lewy Body Disease (LBD). Our sequence analysis did not identify any coding variants in exon 24 of <italic>DNAJC13</italic>. Two previously described variants in intron 23 (rs200204728 and rs2369796) were observed. Our results indicate that the region surrounding the DNAJC13 p.Asn855Ser substitution is highly conserved and mutations in this exon are not a common cause of PD or LBD among Caucasian populations.</p></abstract><kwd-group><kwd>DNAJC13</kwd><kwd>Parkinson’s disease</kwd><kwd>Lewy body disease</kwd><kwd>genetics</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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