Parkinson’s disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation
Identifieur interne : 000377 ( Pmc/Curation ); précédent : 000376; suivant : 000378Parkinson’s disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation
Auteurs : Madeleine E. Sharp [États-Unis] ; Karen S. Marder [États-Unis] ; Lucien Côté [États-Unis] ; Lorraine N. Clark [États-Unis] ; William C. Nichols ; Jean-Paul Vonsattel [États-Unis] ; Roy N. Alcalay [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2013.
Abstract
Clinical chart, genetic analysis and pathological findings of a patient with familial PD are reviewed.
A 44-year-old man developed slowly progressive tremor-predominant PD with excellent response to levodopa. Genetic analysis revealed a heterozygous
The deletion is unlikely an incidental finding considering family history, age-at-onset and the presence of clinical and pathological features not typical of sporadic PD.
Url:
DOI: 10.1002/mds.25792
PubMed: 24375549
PubMed Central: 4281030
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William C. Nichols<affiliation><nlm:aff id="A6">Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine</nlm:aff>
<wicri:noCountry code="subfield">Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine</wicri:noCountry>
</affiliation>
Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Parkinson’s disease with Lewy bodies associated with a heterozygous <italic>PARKIN</italic>
dosage mutation</title>
<author><name sortKey="Sharp, Madeleine E" sort="Sharp, Madeleine E" uniqKey="Sharp M" first="Madeleine E" last="Sharp">Madeleine E. Sharp</name>
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<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
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<orgName type="university">Université Columbia</orgName>
</affiliation>
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<author><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</name>
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<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
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<affiliation wicri:level="4"><nlm:aff id="A2">Gertrude H. Sergievsky Center, Columbia University</nlm:aff>
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<placeName><settlement type="city">New York</settlement>
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<region type="state">État de New York</region>
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<orgName type="university">Université Columbia</orgName>
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<author><name sortKey="Cote, Lucien" sort="Cote, Lucien" uniqKey="Cote L" first="Lucien" last="Côté">Lucien Côté</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Department of Neurology, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
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<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
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</affiliation>
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<author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N" last="Clark">Lorraine N. Clark</name>
<affiliation wicri:level="4"><nlm:aff id="A4">Department of Molecular Genetics, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
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<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C" last="Nichols">William C. Nichols</name>
<affiliation><nlm:aff id="A6">Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine</nlm:aff>
<wicri:noCountry code="subfield">Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name>
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<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
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<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
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</affiliation>
</author>
<author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Department of Neurology, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2013">2013</date>
</imprint>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title>
<p id="P1"><italic>PARKIN</italic>
-related disease remains incompletely understood. First, the pathogenicity of heterozygous <italic>PARKIN</italic>
mutations is unclear though some evidence supports causality. Second, unlike sporadic Parkinson’s disease (PD), Lewy bodies are present only in a minority of cases. Only one other heterozygote <italic>PARKIN</italic>
carrier with autopsy findings has been described. Our case adds to the broadening pathological and clinical phenotype of <italic>PARKIN</italic>
-related disease.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">Clinical chart, genetic analysis and pathological findings of a patient with familial PD are reviewed.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">A 44-year-old man developed slowly progressive tremor-predominant PD with excellent response to levodopa. Genetic analysis revealed a heterozygous <italic>PARKIN</italic>
exon 3-4 deletion, also present in two family members with early-onset PD. Post-mortem examination showed severe neuronal loss in the substantia nigra and nucleus coeruleus with presence of diffuse Lewy bodies.</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">The deletion is unlikely an incidental finding considering family history, age-at-onset and the presence of clinical and pathological features not typical of sporadic PD.</p>
</sec>
</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">8610688</journal-id>
<journal-id journal-id-type="pubmed-jr-id">5937</journal-id>
<journal-id journal-id-type="nlm-ta">Mov Disord</journal-id>
<journal-id journal-id-type="iso-abbrev">Mov. Disord.</journal-id>
<journal-title-group><journal-title>Movement disorders : official journal of the Movement Disorder Society</journal-title>
</journal-title-group>
<issn pub-type="ppub">0885-3185</issn>
<issn pub-type="epub">1531-8257</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">24375549</article-id>
<article-id pub-id-type="pmc">4281030</article-id>
<article-id pub-id-type="doi">10.1002/mds.25792</article-id>
<article-id pub-id-type="manuscript">NIHMS651424</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Parkinson’s disease with Lewy bodies associated with a heterozygous <italic>PARKIN</italic>
dosage mutation</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Sharp</surname>
<given-names>Madeleine E</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Marder</surname>
<given-names>Karen S</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Côté</surname>
<given-names>Lucien</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Clark</surname>
<given-names>Lorraine N</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nichols</surname>
<given-names>William C</given-names>
</name>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vonsattel</surname>
<given-names>Jean-Paul</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Alcalay</surname>
<given-names>Roy N</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Department of Neurology, Columbia University</aff>
<aff id="A2"><label>2</label>
Gertrude H. Sergievsky Center, Columbia University</aff>
<aff id="A3"><label>3</label>
Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University</aff>
<aff id="A4"><label>4</label>
Department of Molecular Genetics, Columbia University</aff>
<aff id="A5"><label>5</label>
Department of Pathology, Columbia University</aff>
<aff id="A6"><label>6</label>
Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine</aff>
<author-notes><corresp id="FN1">Corresponding author: Madeleine E Sharp, <email>ms4567@columbia.edu</email>
, 212-305-7004</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>25</day>
<month>12</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="epub"><day>27</day>
<month>12</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="ppub"><month>4</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>01</day>
<month>4</month>
<year>2015</year>
</pub-date>
<volume>29</volume>
<issue>4</issue>
<fpage>566</fpage>
<lpage>568</lpage>
<pmc-comment>elocation-id from pubmed: 10.1002/mds.25792</pmc-comment>
<abstract><sec id="S1"><title>Background</title>
<p id="P1"><italic>PARKIN</italic>
-related disease remains incompletely understood. First, the pathogenicity of heterozygous <italic>PARKIN</italic>
mutations is unclear though some evidence supports causality. Second, unlike sporadic Parkinson’s disease (PD), Lewy bodies are present only in a minority of cases. Only one other heterozygote <italic>PARKIN</italic>
carrier with autopsy findings has been described. Our case adds to the broadening pathological and clinical phenotype of <italic>PARKIN</italic>
-related disease.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">Clinical chart, genetic analysis and pathological findings of a patient with familial PD are reviewed.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">A 44-year-old man developed slowly progressive tremor-predominant PD with excellent response to levodopa. Genetic analysis revealed a heterozygous <italic>PARKIN</italic>
exon 3-4 deletion, also present in two family members with early-onset PD. Post-mortem examination showed severe neuronal loss in the substantia nigra and nucleus coeruleus with presence of diffuse Lewy bodies.</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">The deletion is unlikely an incidental finding considering family history, age-at-onset and the presence of clinical and pathological features not typical of sporadic PD.</p>
</sec>
</abstract>
</article-meta>
</front>
</pmc>
</record>
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