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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Pallidonigral TDP-43 pathology in Perry syndrome</title><author><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name><affiliation><nlm:aff id="A1">Department of Neurology, Mayo Clinic, Jacksonville, FL, 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 Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Jon Stoessl, A" sort="Jon Stoessl, A" uniqKey="Jon Stoessl A" first="A." last="Jon Stoessl">A. Jon Stoessl</name><affiliation><nlm:aff id="A3">Department of Neurology, Pacific Parkinson’s Research Centre, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Tsuboi, Yoshio" sort="Tsuboi, Yoshio" uniqKey="Tsuboi Y" first="Yoshio" last="Tsuboi">Yoshio Tsuboi</name><affiliation><nlm:aff id="A4">Department of Neurology, Fukuoka University, Fukuoka, Japan</nlm:aff></affiliation></author><author><name sortKey="Chapon, Francoise" sort="Chapon, Francoise" uniqKey="Chapon F" first="Françoise" last="Chapon">Françoise Chapon</name><affiliation><nlm:aff id="A5">Laboratory of Pathology, CHU-Caen, Caen, France</nlm:aff></affiliation></author><author><name sortKey="Gutmann, Ludwig" sort="Gutmann, Ludwig" uniqKey="Gutmann L" first="Ludwig" last="Gutmann">Ludwig Gutmann</name><affiliation><nlm:aff id="A6">Department of Neurology, West Virginia University, Morgantown, WV, USA</nlm:aff></affiliation></author><author><name sortKey="Lechevalier, Bernard" sort="Lechevalier, Bernard" uniqKey="Lechevalier B" first="Bernard" last="Lechevalier">Bernard Lechevalier</name><affiliation><nlm:aff id="A5">Laboratory of Pathology, CHU-Caen, Caen, France</nlm:aff></affiliation></author><author><name sortKey="Calne, Donald B" sort="Calne, Donald B" uniqKey="Calne D" first="Donald B." last="Calne">Donald B. Calne</name><affiliation><nlm:aff id="A3">Department of Neurology, Pacific Parkinson’s Research Centre, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Personett, David A" sort="Personett, David A" uniqKey="Personett D" first="David A." last="Personett">David A. Personett</name><affiliation><nlm:aff id="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Hulihan, Mary" sort="Hulihan, Mary" uniqKey="Hulihan M" first="Mary" last="Hulihan">Mary Hulihan</name><affiliation><nlm:aff id="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><affiliation><nlm:aff id="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name><affiliation><nlm:aff id="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Baker, Matthew C" sort="Baker, Matthew C" uniqKey="Baker M" first="Matthew C." last="Baker">Matthew C. Baker</name><affiliation><nlm:aff id="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Grantier, Linda L" sort="Grantier, Linda L" uniqKey="Grantier L" first="Linda L." last="Grantier">Linda L. Grantier</name><affiliation><nlm:aff id="A3">Department of Neurology, Pacific Parkinson’s Research Centre, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Sujith, O K" sort="Sujith, O K" uniqKey="Sujith O" first="O. K." last="Sujith">O. K. Sujith</name><affiliation><nlm:aff id="A3">Department of Neurology, Pacific Parkinson’s Research Centre, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Brown, Laura" sort="Brown, Laura" uniqKey="Brown L" first="Laura" last="Brown">Laura Brown</name><affiliation><nlm:aff id="A1">Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Calne, Susan" sort="Calne, Susan" uniqKey="Calne S" first="Susan" last="Calne">Susan Calne</name><affiliation><nlm:aff id="A3">Department of Neurology, Pacific Parkinson’s Research Centre, 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="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, 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="A1">Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">18723384</idno><idno type="pmc">2693935</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2693935</idno><idno type="RBID">PMC:2693935</idno><idno type="doi">10.1016/j.parkreldis.2008.07.005</idno><date when="2008">2008</date><idno type="wicri:Area/Pmc/Corpus">000451</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000451</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Pallidonigral TDP-43 pathology in Perry syndrome</title><author><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name><affiliation><nlm:aff id="A1">Department of Neurology, Mayo Clinic, Jacksonville, FL, 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 Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Jon Stoessl, A" sort="Jon Stoessl, A" uniqKey="Jon Stoessl A" first="A." last="Jon Stoessl">A. Jon Stoessl</name><affiliation><nlm:aff id="A3">Department of Neurology, Pacific Parkinson’s Research Centre, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Tsuboi, Yoshio" sort="Tsuboi, Yoshio" uniqKey="Tsuboi Y" first="Yoshio" last="Tsuboi">Yoshio Tsuboi</name><affiliation><nlm:aff id="A4">Department of Neurology, Fukuoka University, Fukuoka, Japan</nlm:aff></affiliation></author><author><name sortKey="Chapon, Francoise" sort="Chapon, Francoise" uniqKey="Chapon F" first="Françoise" last="Chapon">Françoise Chapon</name><affiliation><nlm:aff id="A5">Laboratory of Pathology, CHU-Caen, Caen, France</nlm:aff></affiliation></author><author><name sortKey="Gutmann, Ludwig" sort="Gutmann, Ludwig" uniqKey="Gutmann L" first="Ludwig" last="Gutmann">Ludwig Gutmann</name><affiliation><nlm:aff id="A6">Department of Neurology, West Virginia University, Morgantown, WV, USA</nlm:aff></affiliation></author><author><name sortKey="Lechevalier, Bernard" sort="Lechevalier, Bernard" uniqKey="Lechevalier B" first="Bernard" last="Lechevalier">Bernard Lechevalier</name><affiliation><nlm:aff id="A5">Laboratory of Pathology, CHU-Caen, Caen, France</nlm:aff></affiliation></author><author><name sortKey="Calne, Donald B" sort="Calne, Donald B" uniqKey="Calne D" first="Donald B." last="Calne">Donald B. Calne</name><affiliation><nlm:aff id="A3">Department of Neurology, Pacific Parkinson’s Research Centre, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Personett, David A" sort="Personett, David A" uniqKey="Personett D" first="David A." last="Personett">David A. Personett</name><affiliation><nlm:aff id="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Hulihan, Mary" sort="Hulihan, Mary" uniqKey="Hulihan M" first="Mary" last="Hulihan">Mary Hulihan</name><affiliation><nlm:aff id="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><affiliation><nlm:aff id="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name><affiliation><nlm:aff id="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Baker, Matthew C" sort="Baker, Matthew C" uniqKey="Baker M" first="Matthew C." last="Baker">Matthew C. Baker</name><affiliation><nlm:aff id="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Grantier, Linda L" sort="Grantier, Linda L" uniqKey="Grantier L" first="Linda L." last="Grantier">Linda L. Grantier</name><affiliation><nlm:aff id="A3">Department of Neurology, Pacific Parkinson’s Research Centre, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Sujith, O K" sort="Sujith, O K" uniqKey="Sujith O" first="O. K." last="Sujith">O. K. Sujith</name><affiliation><nlm:aff id="A3">Department of Neurology, Pacific Parkinson’s Research Centre, Vancouver, BC, Canada</nlm:aff></affiliation></author><author><name sortKey="Brown, Laura" sort="Brown, Laura" uniqKey="Brown L" first="Laura" last="Brown">Laura Brown</name><affiliation><nlm:aff id="A1">Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author><author><name sortKey="Calne, Susan" sort="Calne, Susan" uniqKey="Calne S" first="Susan" last="Calne">Susan Calne</name><affiliation><nlm:aff id="A3">Department of Neurology, Pacific Parkinson’s Research Centre, 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="A2">Department of Neuroscience, Mayo Clinic, Jacksonville, FL, 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="A1">Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</nlm:aff></affiliation></author></analytic><series><title level="j">Parkinsonism & related disorders</title><idno type="ISSN">1353-8020</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Objective</title><p id="P1">Autosomal dominant parkinsonism, hypoventilation, depression and severe weight loss (Perry syndrome) is an early-onset rapidly progressive disease. At autopsy, previous studies have found severe neuronal loss in the substantia nigra without Lewy bodies. Transactive response DNA-binding protein of 43 kDa (TDP-43) has recently been identified as a major ubiquitinated constituent of neuronal and glial inclusions in frontotemporal lobar degeneration with ubiquitin-positive inclusions and in amyotrophic lateral sclerosis. This study reports clinical, genetic and neuropathologic investigations of Perry syndrome.</p></sec><sec sec-type="methods" id="S2"><title>Methods</title><p id="P2">Clinical data and autopsy brain tissue samples were collected from eight patients from four genealogically unrelated kindreds with Perry syndrome. Brain tissue was studied with immunohistochemistry and biochemistry for TDP-43. Patients were screened for mutations in the <italic>progranulin</italic> (<italic>GRN</italic>) and <italic>TDP-43</italic> (<italic>TARDBP</italic>) genes.</p></sec><sec id="S3"><title>Results</title><p id="P3">The mean age at onset was 47 years (range: 40-56), and the mean age at death was 52 years (range: 44-64). In all patients, we identified TDP-43-positive neuronal inclusions, dystrophic neurites and axonal spheroids in a predominantly pallidonigral distribution, and we demonstrated changes in solubility and electrophoretic mobility of TDP-43 in brain tissue. The inclusions were highly pleomorphic and predominated in the extrapyramidal system, sparing the cortex, hippocampus and motor neurons. There were no mutations in <italic>GRN</italic> or <italic>TARDBP</italic>.</p></sec><sec id="S4"><title>Interpretation</title><p id="P4">Perry syndrome displays unique TDP-43 pathology that is selective for the extrapyramidal system and spares the neocortex and motor neurons.</p></sec></div></front></TEI><pmc article-type="research-article" xml:lang="EN"><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">9513583</journal-id><journal-id journal-id-type="pubmed-jr-id">21522</journal-id><journal-id journal-id-type="nlm-ta">Parkinsonism Relat Disord</journal-id><journal-title>Parkinsonism & related disorders</journal-title><issn pub-type="ppub">1353-8020</issn></journal-meta><article-meta><article-id pub-id-type="pmid">18723384</article-id><article-id pub-id-type="pmc">2693935</article-id><article-id pub-id-type="doi">10.1016/j.parkreldis.2008.07.005</article-id><article-id pub-id-type="manuscript">NIHMS115126</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Pallidonigral TDP-43 pathology in Perry syndrome</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Wider</surname><given-names>Christian</given-names></name><degrees>MD</degrees><xref rid="A1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Dickson</surname><given-names>Dennis W.</given-names></name><degrees>MD</degrees><xref rid="A2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Jon Stoessl</surname><given-names>A.</given-names></name><degrees>MD, FRCPC</degrees><xref rid="A3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Tsuboi</surname><given-names>Yoshio</given-names></name><degrees>MD</degrees><xref rid="A4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Chapon</surname><given-names>Françoise</given-names></name><degrees>MD</degrees><xref rid="A5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Gutmann</surname><given-names>Ludwig</given-names></name><degrees>MD</degrees><xref rid="A6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Lechevalier</surname><given-names>Bernard</given-names></name><degrees>MD</degrees><xref rid="A5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Calne</surname><given-names>Donald B.</given-names></name><degrees>MD, FRCPC</degrees><xref rid="A3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Personett</surname><given-names>David A.</given-names></name><degrees>PhD</degrees><xref rid="A2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Hulihan</surname><given-names>Mary</given-names></name><degrees>MPH</degrees><xref rid="A2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Kachergus</surname><given-names>Jennifer</given-names></name><degrees>BSc</degrees><xref rid="A2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Rademakers</surname><given-names>Rosa</given-names></name><degrees>PhD</degrees><xref rid="A2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Baker</surname><given-names>Matthew C.</given-names></name><degrees>BSc</degrees><xref rid="A2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Grantier</surname><given-names>Linda L.</given-names></name><degrees>RN</degrees><xref rid="A3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Sujith</surname><given-names>O. K.</given-names></name><degrees>MD</degrees><xref rid="A3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Brown</surname><given-names>Laura</given-names></name><degrees>BS</degrees><xref rid="A1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Calne</surname><given-names>Susan</given-names></name><degrees>RN</degrees><xref rid="A3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Farrer</surname><given-names>Matthew J.</given-names></name><degrees>PhD</degrees><xref rid="A2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Wszolek</surname><given-names>Zbigniew K.</given-names></name><degrees>MD</degrees><xref rid="A1" ref-type="aff">1</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Neurology, Mayo Clinic, Jacksonville, FL, USA</aff><aff id="A2"><label>2</label>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA</aff><aff id="A3"><label>3</label>Department of Neurology, Pacific Parkinson’s Research Centre, Vancouver, BC, Canada</aff><aff id="A4"><label>4</label>Department of Neurology, Fukuoka University, Fukuoka, Japan</aff><aff id="A5"><label>5</label>Laboratory of Pathology, CHU-Caen, Caen, France</aff><aff id="A6"><label>6</label>Department of Neurology, West Virginia University, Morgantown, WV, USA</aff><author-notes><corresp id="FN1"><label>*</label>Address for correspondence: Dennis W Dickson, MD, Neuropathology Laboratory, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, Phone: 904-953-7137, Fax: 904-953-7117, E-mail: <email>dickson.dennis@mayo.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>8</day><month>5</month><year>2009</year></pub-date><pub-date pub-type="epub"><day>23</day><month>8</month><year>2008</year></pub-date><pub-date pub-type="ppub"><month>5</month><year>2009</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>5</month><year>2010</year></pub-date><volume>15</volume><issue>4</issue><fpage>281</fpage><lpage>286</lpage><abstract><sec id="S1"><title>Objective</title><p id="P1">Autosomal dominant parkinsonism, hypoventilation, depression and severe weight loss (Perry syndrome) is an early-onset rapidly progressive disease. At autopsy, previous studies have found severe neuronal loss in the substantia nigra without Lewy bodies. Transactive response DNA-binding protein of 43 kDa (TDP-43) has recently been identified as a major ubiquitinated constituent of neuronal and glial inclusions in frontotemporal lobar degeneration with ubiquitin-positive inclusions and in amyotrophic lateral sclerosis. This study reports clinical, genetic and neuropathologic investigations of Perry syndrome.</p></sec><sec sec-type="methods" id="S2"><title>Methods</title><p id="P2">Clinical data and autopsy brain tissue samples were collected from eight patients from four genealogically unrelated kindreds with Perry syndrome. Brain tissue was studied with immunohistochemistry and biochemistry for TDP-43. Patients were screened for mutations in the <italic>progranulin</italic> (<italic>GRN</italic>) and <italic>TDP-43</italic> (<italic>TARDBP</italic>) genes.</p></sec><sec id="S3"><title>Results</title><p id="P3">The mean age at onset was 47 years (range: 40-56), and the mean age at death was 52 years (range: 44-64). In all patients, we identified TDP-43-positive neuronal inclusions, dystrophic neurites and axonal spheroids in a predominantly pallidonigral distribution, and we demonstrated changes in solubility and electrophoretic mobility of TDP-43 in brain tissue. The inclusions were highly pleomorphic and predominated in the extrapyramidal system, sparing the cortex, hippocampus and motor neurons. There were no mutations in <italic>GRN</italic> or <italic>TARDBP</italic>.</p></sec><sec id="S4"><title>Interpretation</title><p id="P4">Perry syndrome displays unique TDP-43 pathology that is selective for the extrapyramidal system and spares the neocortex and motor neurons.</p></sec></abstract><kwd-group><kwd>autosomal dominant</kwd><kwd>axonal dystrophy</kwd><kwd>neuronal cytoplasmic inclusions</kwd><kwd>pallidonigral</kwd><kwd>parkinsonism</kwd><kwd>Perry syndrome</kwd><kwd><italic>TARDBP</italic></kwd><kwd>TDP-43</kwd></kwd-group><contract-num rid="NS1">P50 NS040256-10</contract-num><contract-num rid="AG1">P01 AG017216-09</contract-num><contract-sponsor id="NS1">National Institute of Neurological Disorders and Stroke : NINDS</contract-sponsor><contract-sponsor id="AG1">National Institute on Aging : NIA</contract-sponsor></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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