ParkinsonCanadaV1, Main, Exploration, bibRecord, 000776

DNAJC13 p.Asn855Ser mutation screening in Parkinson’s disease and pathologically confirmed Lewy body disease patients

Identifieur interne : 000776 ( Main/Exploration ); précédent : 000775; suivant : 000777

DNAJC13 p.Asn855Ser mutation screening in Parkinson’s disease and pathologically confirmed Lewy body disease patients

Auteurs : Oswaldo Lorenzo-Betancor [États-Unis] ; Kotaro Ogaki [États-Unis] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Catherine Labbé [États-Unis] ; Ronald L. Walton [États-Unis] ; Audrey J. Strongosky [États-Unis] ; Jay A. Van Gerpen [États-Unis] ; Ryan J. Uitti [États-Unis] ; Pamela Mclean [États-Unis] ; Wolfdieter Springer [États-Unis] ; Joanna Siuda [Pologne] ; Grzegorz Opala [Pologne] ; Anna Krygowska-Wajs [Pologne] ; Maria Barcikowska [Pologne] ; Krzysztof Czyzewski [Pologne] ; Allan Mccarthy [Irlande (pays)] ; Timothy Lynch [Irlande (pays)] ; Andreas Puschmann [Suède] ; Irena Rektorová [République tchèque] ; Yanosh Sanotsky [Ukraine] ; Carles Vilarino-Guell [Canada] ; Matthew J. Farrer [Canada] ; Tanis J. Ferman [États-Unis] ; Bradley F. Boeve [États-Unis] ; Ronald C. Petersen [États-Unis] ; Joseph E. Parisi [États-Unis] ; Neill R. Graff-Radford [États-Unis] ; Dennis W. Dickson [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Owen A. Ross [États-Unis]

Source :

European journal of neurology : the official journal of the European Federation of Neurological Societies [ 1351-5101 ] ; 2015.

RBID : PMC:4542017

English descriptors

KwdEn :
- Adult, Aged, Aged, 80 and over, Europe, Exons, Female, Humans, Lewy Body Disease (genetics), Male, Middle Aged, Molecular Chaperones (genetics), Mutation, Parkinson Disease (genetics).
MESH :
- chemical , genetics : Molecular Chaperones.
- geographic : Europe.
- genetics : Lewy Body Disease, Parkinson Disease.
- Adult, Aged, Aged, 80 and over, Exons, Female, Humans, Male, Middle Aged, Mutation.

Abstract

Recently, a novel mutation in exon 24 of DNAJC13 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 DNAJC13 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 DNAJC13. 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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4542017

DOI: 10.1111/ene.12770
PubMed: 26278106
PubMed Central: 4542017

Affiliations:

Canada, Irlande (pays), Pologne, République tchèque, Suède, Ukraine, États-Unis
Floride, Moravie
Brno

Le document en format XML

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<author><name sortKey="Springer, Wolfdieter" sort="Springer, Wolfdieter" uniqKey="Springer W" first="Wolfdieter" last="Springer">Wolfdieter Springer</name>
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<author><name sortKey="Siuda, Joanna" sort="Siuda, Joanna" uniqKey="Siuda J" first="Joanna" last="Siuda">Joanna Siuda</name>
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<author><name sortKey="Mccarthy, Allan" sort="Mccarthy, Allan" uniqKey="Mccarthy A" first="Allan" last="Mccarthy">Allan Mccarthy</name>
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<author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name>
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<affiliation wicri:level="1"><nlm:aff id="A9">Department of Neurology, Skåne University Hospital, Sweden</nlm:aff>
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<wicri:regionArea>Department of Neurology, Skåne University Hospital</wicri:regionArea>
<wicri:noRegion>Skåne University Hospital</wicri:noRegion>
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<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
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<author><name sortKey="Ferman, Tanis J" sort="Ferman, Tanis J" uniqKey="Ferman T" first="Tanis J." last="Ferman">Tanis J. Ferman</name>
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<author><name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F." last="Boeve">Bradley F. Boeve</name>
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<author><name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C." last="Petersen">Ronald C. Petersen</name>
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<wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, MN</wicri:regionArea>
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<author><name sortKey="Parisi, Joseph E" sort="Parisi, Joseph E" uniqKey="Parisi J" first="Joseph E." last="Parisi">Joseph E. Parisi</name>
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<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>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
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<author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
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<author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name>
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<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>
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<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
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<author><name sortKey="Labbe, Catherine" sort="Labbe, Catherine" uniqKey="Labbe C" first="Catherine" last="Labbé">Catherine Labbé</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
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</placeName>
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</author>
<author><name sortKey="Walton, Ronald L" sort="Walton, Ronald L" uniqKey="Walton R" first="Ronald L." last="Walton">Ronald L. Walton</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</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 wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</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 wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</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 wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mclean, Pamela" sort="Mclean, Pamela" uniqKey="Mclean P" first="Pamela" last="Mclean">Pamela Mclean</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Springer, Wolfdieter" sort="Springer, Wolfdieter" uniqKey="Springer W" first="Wolfdieter" last="Springer">Wolfdieter Springer</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Siuda, Joanna" sort="Siuda, Joanna" uniqKey="Siuda J" first="Joanna" last="Siuda">Joanna Siuda</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Neurology, Medical University of Silesia, Katowice</wicri:regionArea>
<wicri:noRegion>Katowice</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Neurology, Medical University of Silesia, Katowice, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Neurology, Medical University of Silesia, Katowice</wicri:regionArea>
<wicri:noRegion>Katowice</wicri:noRegion>
</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 wicri:level="1"><nlm:aff id="A4">Department of Neurology, Jagiellonian University, Krakow, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Neurology, Jagiellonian University, Krakow</wicri:regionArea>
<wicri:noRegion>Krakow</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Barcikowska, Maria" sort="Barcikowska, Maria" uniqKey="Barcikowska M" first="Maria" last="Barcikowska">Maria Barcikowska</name>
<affiliation wicri:level="1"><nlm:aff id="A5">Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw</wicri:regionArea>
<wicri:noRegion>Warsaw</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Czyzewski, Krzysztof" sort="Czyzewski, Krzysztof" uniqKey="Czyzewski K" first="Krzysztof" last="Czyzewski">Krzysztof Czyzewski</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Department of Neurology, Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Neurology, Central Hospital of the Ministry of Interior and Administration, Warsaw</wicri:regionArea>
<wicri:noRegion>Warsaw</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mccarthy, Allan" sort="Mccarthy, Allan" uniqKey="Mccarthy A" first="Allan" last="Mccarthy">Allan Mccarthy</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular & Biomedical Research, University College Dublin</wicri:regionArea>
<wicri:noRegion>University College Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular & Biomedical Research, University College Dublin</wicri:regionArea>
<wicri:noRegion>University College Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
<affiliation wicri:level="1"><nlm:aff id="A8">Lund University, Department of Clinical Sciences, Lund, Neurology, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Lund University, Department of Clinical Sciences, Lund, Neurology</wicri:regionArea>
<wicri:noRegion>Neurology</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A9">Department of Neurology, Skåne University Hospital, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Neurology, Skåne University Hospital</wicri:regionArea>
<wicri:noRegion>Skåne University Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rektorova, Irena" sort="Rektorova, Irena" uniqKey="Rektorova I" first="Irena" last="Rektorová">Irena Rektorová</name>
<affiliation wicri:level="3"><nlm:aff id="A10">Masaryk University, Central European Institute of Technology and First Department of Neurology, School of Medicine, Brno, Czech Republic</nlm:aff>
<country xml:lang="fr">République tchèque</country>
<wicri:regionArea>Masaryk University, Central European Institute of Technology and First Department of Neurology, School of Medicine, Brno</wicri:regionArea>
<placeName><settlement type="city">Brno</settlement>
<region>Moravie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sanotsky, Yanosh" sort="Sanotsky, Yanosh" uniqKey="Sanotsky Y" first="Yanosh" last="Sanotsky">Yanosh Sanotsky</name>
<affiliation wicri:level="1"><nlm:aff id="A11">Lviv Regional Clinical Hospital, Lviv, Ukraine</nlm:aff>
<country xml:lang="fr">Ukraine</country>
<wicri:regionArea>Lviv Regional Clinical Hospital, Lviv</wicri:regionArea>
<wicri:noRegion>Lviv</wicri:noRegion>
</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 wicri:level="1"><nlm:aff id="A12">Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea>
<wicri:noRegion>BC</wicri:noRegion>
</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 wicri:level="1"><nlm:aff id="A12">Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea>
<wicri:noRegion>BC</wicri:noRegion>
</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 wicri:level="1"><nlm:aff id="A13">Department of Psychiatry and Psychology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry and Psychology, Mayo Clinic, Jacksonville, FL</wicri:regionArea>
<wicri:noRegion>FL</wicri:noRegion>
</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 wicri:level="1"><nlm:aff id="A14">Department of Neurology, Mayo Clinic, Rochester, MN, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, MN</wicri:regionArea>
<wicri:noRegion>MN</wicri:noRegion>
</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 wicri:level="1"><nlm:aff id="A14">Department of Neurology, Mayo Clinic, Rochester, MN, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, MN</wicri:regionArea>
<wicri:noRegion>MN</wicri:noRegion>
</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 wicri:level="1"><nlm:aff id="A15">Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN</wicri:regionArea>
<wicri:noRegion>MN</wicri:noRegion>
</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 wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</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 wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A16">Department of Pathology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pathology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</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 wicri:level="2"><nlm:aff id="A2">Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</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 wicri:level="2"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</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><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Europe</term>
<term>Exons</term>
<term>Female</term>
<term>Humans</term>
<term>Lewy Body Disease (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Chaperones (genetics)</term>
<term>Mutation</term>
<term>Parkinson Disease (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Europe</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lewy Body Disease</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Exons</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
</keywords>
</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>
<affiliations><list><country><li>Canada</li>
<li>Irlande (pays)</li>
<li>Pologne</li>
<li>République tchèque</li>
<li>Suède</li>
<li>Ukraine</li>
<li>États-Unis</li>
</country>
<region><li>Floride</li>
<li>Moravie</li>
</region>
<settlement><li>Brno</li>
</settlement>
</list>
<tree><country name="États-Unis"><region name="Floride"><name sortKey="Lorenzo Betancor, Oswaldo" sort="Lorenzo Betancor, Oswaldo" uniqKey="Lorenzo Betancor O" first="Oswaldo" last="Lorenzo-Betancor">Oswaldo Lorenzo-Betancor</name>
</region>
<name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F." last="Boeve">Bradley F. Boeve</name>
<name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<name sortKey="Ferman, Tanis J" sort="Ferman, Tanis J" uniqKey="Ferman T" first="Tanis J." last="Ferman">Tanis J. Ferman</name>
<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>
<name sortKey="Labbe, Catherine" sort="Labbe, Catherine" uniqKey="Labbe C" first="Catherine" last="Labbé">Catherine Labbé</name>
<name sortKey="Mclean, Pamela" sort="Mclean, Pamela" uniqKey="Mclean P" first="Pamela" last="Mclean">Pamela Mclean</name>
<name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name>
<name sortKey="Parisi, Joseph E" sort="Parisi, Joseph E" uniqKey="Parisi J" first="Joseph E." last="Parisi">Joseph E. Parisi</name>
<name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C." last="Petersen">Ronald C. Petersen</name>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<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>
<name sortKey="Springer, Wolfdieter" sort="Springer, Wolfdieter" uniqKey="Springer W" first="Wolfdieter" last="Springer">Wolfdieter Springer</name>
<name sortKey="Strongosky, Audrey J" sort="Strongosky, Audrey J" uniqKey="Strongosky A" first="Audrey J." last="Strongosky">Audrey J. Strongosky</name>
<name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
<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>
<name sortKey="Walton, Ronald L" sort="Walton, Ronald L" uniqKey="Walton R" first="Ronald L." last="Walton">Ronald L. Walton</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</country>
<country name="Pologne"><noRegion><name sortKey="Siuda, Joanna" sort="Siuda, Joanna" uniqKey="Siuda J" first="Joanna" last="Siuda">Joanna Siuda</name>
</noRegion>
<name sortKey="Barcikowska, Maria" sort="Barcikowska, Maria" uniqKey="Barcikowska M" first="Maria" last="Barcikowska">Maria Barcikowska</name>
<name sortKey="Czyzewski, Krzysztof" sort="Czyzewski, Krzysztof" uniqKey="Czyzewski K" first="Krzysztof" last="Czyzewski">Krzysztof Czyzewski</name>
<name sortKey="Krygowska Wajs, Anna" sort="Krygowska Wajs, Anna" uniqKey="Krygowska Wajs A" first="Anna" last="Krygowska-Wajs">Anna Krygowska-Wajs</name>
<name sortKey="Opala, Grzegorz" sort="Opala, Grzegorz" uniqKey="Opala G" first="Grzegorz" last="Opala">Grzegorz Opala</name>
</country>
<country name="Irlande (pays)"><noRegion><name sortKey="Mccarthy, Allan" sort="Mccarthy, Allan" uniqKey="Mccarthy A" first="Allan" last="Mccarthy">Allan Mccarthy</name>
</noRegion>
<name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name>
</country>
<country name="Suède"><noRegion><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
</noRegion>
<name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
</country>
<country name="République tchèque"><region name="Moravie"><name sortKey="Rektorova, Irena" sort="Rektorova, Irena" uniqKey="Rektorova I" first="Irena" last="Rektorová">Irena Rektorová</name>
</region>
</country>
<country name="Ukraine"><noRegion><name sortKey="Sanotsky, Yanosh" sort="Sanotsky, Yanosh" uniqKey="Sanotsky Y" first="Yanosh" last="Sanotsky">Yanosh Sanotsky</name>
</noRegion>
</country>
<country name="Canada"><noRegion><name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Guell">Carles Vilarino-Guell</name>
</noRegion>
<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
</country>
</tree>
</affiliations>
</record>

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La maladie de Parkinson au Canada (serveur d'exploration)

DNAJC13 p.Asn855Ser mutation screening in Parkinson’s disease and pathologically confirmed Lewy body disease patients

DNAJC13 p.Asn855Ser mutation screening in Parkinson’s disease and pathologically confirmed Lewy body disease patients

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	La maladie de Parkinson au Canada (serveur d'exploration)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.