Parkinson’s disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation
Identifieur interne : 000093 ( Pmc/Checkpoint ); précédent : 000092; suivant : 000094Parkinson’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
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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><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></placeName><orgName type="university">Université Columbia</orgName></affiliation></author><author><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</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></placeName><orgName type="university">Université Columbia</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="A2">Gertrude H. Sergievsky Center, Columbia University</nlm:aff><country>États-Unis</country><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="A3">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University</nlm:aff><country>États-Unis</country><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation></author><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><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="A3">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University</nlm:aff><country>États-Unis</country><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation></author><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><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="A5">Department of Pathology, Columbia University</nlm:aff><country>États-Unis</country><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation></author><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><affiliation wicri:level="4"><nlm:aff id="A3">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University</nlm:aff><country>États-Unis</country><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="A5">Department of Pathology, Columbia University</nlm:aff><country>États-Unis</country><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></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></placeName><orgName type="university">Université Columbia</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="A3">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University</nlm:aff><country>États-Unis</country><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24375549</idno><idno type="pmc">4281030</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281030</idno><idno type="RBID">PMC:4281030</idno><idno type="doi">10.1002/mds.25792</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">000377</idno><idno type="wicri:Area/Pmc/Curation">000377</idno><idno type="wicri:Area/Pmc/Checkpoint">000093</idno></publicationStmt><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><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></placeName><orgName type="university">Université Columbia</orgName></affiliation></author><author><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</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></placeName><orgName type="university">Université Columbia</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="A2">Gertrude H. Sergievsky Center, Columbia University</nlm:aff><country>États-Unis</country><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="A3">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University</nlm:aff><country>États-Unis</country><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation></author><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><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="A3">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University</nlm:aff><country>États-Unis</country><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation></author><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><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="A5">Department of Pathology, Columbia University</nlm:aff><country>États-Unis</country><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation></author><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><affiliation wicri:level="4"><nlm:aff id="A3">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University</nlm:aff><country>États-Unis</country><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="A5">Department of Pathology, Columbia University</nlm:aff><country>États-Unis</country><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></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></placeName><orgName type="university">Université Columbia</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="A3">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University</nlm:aff><country>États-Unis</country><placeName><settlement type="city">New York</settlement><region type="state">État de New York</region></placeName><orgName type="university">Université Columbia</orgName></affiliation></author></analytic><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></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><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><affiliations><list><country><li>États-Unis</li></country><region><li>État de New York</li></region><settlement><li>New York</li></settlement><orgName><li>Université Columbia</li></orgName></list><tree><noCountry><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C" last="Nichols">William C. Nichols</name></noCountry><country name="États-Unis"><region name="État de New York"><name sortKey="Sharp, Madeleine E" sort="Sharp, Madeleine E" uniqKey="Sharp M" first="Madeleine E" last="Sharp">Madeleine E. Sharp</name></region><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N" last="Clark">Lorraine N. Clark</name><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N" last="Clark">Lorraine N. Clark</name><name sortKey="Cote, Lucien" sort="Cote, Lucien" uniqKey="Cote L" first="Lucien" last="Côté">Lucien Côté</name><name sortKey="Cote, Lucien" sort="Cote, Lucien" uniqKey="Cote L" first="Lucien" last="Côté">Lucien Côté</name><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</name><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</name><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</name><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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