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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease</title><author><name sortKey="Cairns, N J" sort="Cairns, N J" uniqKey="Cairns N" first="N. J." last="Cairns">N. J. Cairns</name></author><author><name sortKey="Grossman, M" sort="Grossman, M" uniqKey="Grossman M" first="M." last="Grossman">M. Grossman</name></author><author><name sortKey="Arnold, S E" sort="Arnold, S E" uniqKey="Arnold S" first="S. E." last="Arnold">S. E. Arnold</name></author><author><name sortKey="Burn, D J" sort="Burn, D J" uniqKey="Burn D" first="D. J." last="Burn">D. J. Burn</name></author><author><name sortKey="Jaros, E" sort="Jaros, E" uniqKey="Jaros E" first="E." last="Jaros">E. Jaros</name></author><author><name sortKey="Perry, R H" sort="Perry, R H" uniqKey="Perry R" first="R. H." last="Perry">R. H. Perry</name></author><author><name sortKey="Duyckaerts, C" sort="Duyckaerts, C" uniqKey="Duyckaerts C" first="C." last="Duyckaerts">C. Duyckaerts</name></author><author><name sortKey="Stankoff, B" sort="Stankoff, B" uniqKey="Stankoff B" first="B." last="Stankoff">B. Stankoff</name></author><author><name sortKey="Pillon, B" sort="Pillon, B" uniqKey="Pillon B" first="B." last="Pillon">B. Pillon</name></author><author><name sortKey="Skullerud, K" sort="Skullerud, K" uniqKey="Skullerud K" first="K." last="Skullerud">K. Skullerud</name></author><author><name sortKey="Cruz Sanchez, F F" sort="Cruz Sanchez, F F" uniqKey="Cruz Sanchez F" first="F. F." last="Cruz-Sanchez">F. F. Cruz-Sanchez</name></author><author><name sortKey="Bigio, E H" sort="Bigio, E H" uniqKey="Bigio E" first="E. H." last="Bigio">E. H. Bigio</name></author><author><name sortKey="Mackenzie, I R A" sort="Mackenzie, I R A" uniqKey="Mackenzie I" first="I. R. A." last="Mackenzie">I. R. A. Mackenzie</name></author><author><name sortKey="Gearing, M" sort="Gearing, M" uniqKey="Gearing M" first="M." last="Gearing">M. Gearing</name></author><author><name sortKey="Juncos, J L" sort="Juncos, J L" uniqKey="Juncos J" first="J. L." last="Juncos">J. L. Juncos</name></author><author><name sortKey="Glass, J D" sort="Glass, J D" uniqKey="Glass J" first="J. D." last="Glass">J. D. Glass</name></author><author><name sortKey="Yokoo, H" sort="Yokoo, H" uniqKey="Yokoo H" first="H." last="Yokoo">H. Yokoo</name></author><author><name sortKey="Nakazato, Y" sort="Nakazato, Y" uniqKey="Nakazato Y" first="Y." last="Nakazato">Y. Nakazato</name></author><author><name sortKey="Mosaheb, S" sort="Mosaheb, S" uniqKey="Mosaheb S" first="S." last="Mosaheb">S. Mosaheb</name></author><author><name sortKey="Thorpe, J R" sort="Thorpe, J R" uniqKey="Thorpe J" first="J. R." last="Thorpe">J. R. Thorpe</name></author><author><name sortKey="Uryu, K" sort="Uryu, K" uniqKey="Uryu K" first="K." last="Uryu">K. Uryu</name></author><author><name sortKey="Lee, V M Y" sort="Lee, V M Y" uniqKey="Lee V" first="V. M.-Y." last="Lee">V. M.-Y. Lee</name></author><author><name sortKey="Trojanowski, J Q" sort="Trojanowski, J Q" uniqKey="Trojanowski J" first="J. Q." last="Trojanowski">J. Q. Trojanowski</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">15505152</idno><idno type="pmc">3516854</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516854</idno><idno type="RBID">PMC:3516854</idno><date when="2004">2004</date><idno type="wicri:Area/Pmc/Corpus">000582</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000582</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease</title><author><name sortKey="Cairns, N J" sort="Cairns, N J" uniqKey="Cairns N" first="N. J." last="Cairns">N. J. Cairns</name></author><author><name sortKey="Grossman, M" sort="Grossman, M" uniqKey="Grossman M" first="M." last="Grossman">M. Grossman</name></author><author><name sortKey="Arnold, S E" sort="Arnold, S E" uniqKey="Arnold S" first="S. E." last="Arnold">S. E. Arnold</name></author><author><name sortKey="Burn, D J" sort="Burn, D J" uniqKey="Burn D" first="D. J." last="Burn">D. J. Burn</name></author><author><name sortKey="Jaros, E" sort="Jaros, E" uniqKey="Jaros E" first="E." last="Jaros">E. Jaros</name></author><author><name sortKey="Perry, R H" sort="Perry, R H" uniqKey="Perry R" first="R. H." last="Perry">R. H. Perry</name></author><author><name sortKey="Duyckaerts, C" sort="Duyckaerts, C" uniqKey="Duyckaerts C" first="C." last="Duyckaerts">C. Duyckaerts</name></author><author><name sortKey="Stankoff, B" sort="Stankoff, B" uniqKey="Stankoff B" first="B." last="Stankoff">B. Stankoff</name></author><author><name sortKey="Pillon, B" sort="Pillon, B" uniqKey="Pillon B" first="B." last="Pillon">B. Pillon</name></author><author><name sortKey="Skullerud, K" sort="Skullerud, K" uniqKey="Skullerud K" first="K." last="Skullerud">K. Skullerud</name></author><author><name sortKey="Cruz Sanchez, F F" sort="Cruz Sanchez, F F" uniqKey="Cruz Sanchez F" first="F. F." last="Cruz-Sanchez">F. F. Cruz-Sanchez</name></author><author><name sortKey="Bigio, E H" sort="Bigio, E H" uniqKey="Bigio E" first="E. H." last="Bigio">E. H. Bigio</name></author><author><name sortKey="Mackenzie, I R A" sort="Mackenzie, I R A" uniqKey="Mackenzie I" first="I. R. A." last="Mackenzie">I. R. A. Mackenzie</name></author><author><name sortKey="Gearing, M" sort="Gearing, M" uniqKey="Gearing M" first="M." last="Gearing">M. Gearing</name></author><author><name sortKey="Juncos, J L" sort="Juncos, J L" uniqKey="Juncos J" first="J. L." last="Juncos">J. L. Juncos</name></author><author><name sortKey="Glass, J D" sort="Glass, J D" uniqKey="Glass J" first="J. D." last="Glass">J. D. Glass</name></author><author><name sortKey="Yokoo, H" sort="Yokoo, H" uniqKey="Yokoo H" first="H." last="Yokoo">H. Yokoo</name></author><author><name sortKey="Nakazato, Y" sort="Nakazato, Y" uniqKey="Nakazato Y" first="Y." last="Nakazato">Y. Nakazato</name></author><author><name sortKey="Mosaheb, S" sort="Mosaheb, S" uniqKey="Mosaheb S" first="S." last="Mosaheb">S. Mosaheb</name></author><author><name sortKey="Thorpe, J R" sort="Thorpe, J R" uniqKey="Thorpe J" first="J. R." last="Thorpe">J. R. Thorpe</name></author><author><name sortKey="Uryu, K" sort="Uryu, K" uniqKey="Uryu K" first="K." last="Uryu">K. Uryu</name></author><author><name sortKey="Lee, V M Y" sort="Lee, V M Y" uniqKey="Lee V" first="V. M.-Y." last="Lee">V. M.-Y. Lee</name></author><author><name sortKey="Trojanowski, J Q" sort="Trojanowski, J Q" uniqKey="Trojanowski J" first="J. Q." last="Trojanowski">J. Q. Trojanowski</name></author></analytic><series><title level="j">Neurology</title><idno type="ISSN">0028-3878</idno><idno type="eISSN">1526-632X</idno><imprint><date when="2004">2004</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">Recently described neuronal intermediate filament inclusion disease (NIFID) shows considerable clinical heterogeneity.</p></sec><sec id="S2"><title>Objective</title><p id="P2">To assess the spectrum of the clinical and neuropathological features in 10 NIFID cases.</p></sec><sec id="S3"><title>Methods</title><p id="P3">Retrospective chart and comprehensive neuropathological review of these NIFID cases was conducted.</p></sec><sec id="S4"><title>Results</title><p id="P4">The mean age at onset was 40.8 (range 23 to 56) years, mean disease duration was 4.5 (range 2.7 to 13) years, and mean age at death was 45.3 (range 28 to 61) years. The most common presenting symptoms were behavioral and personality changes in 7 of 10 cases and, less often, memory loss, cognitive impairment, language deficits, and motor weakness. Extrapyramidal features were present in 8 of 10 patients. Language impairment, perseveration, executive dysfunction, hyperreflexia, and primitive reflexes were frequent signs, whereas a minority had buccofacial apraxia, supranuclear ophthalmoplegia, upper motor neuron disease (MND), and limb dystonia. Frontotemporal and caudate atrophy were common. Histologic changes were extensive in many cortical areas, deep gray matter, cerebellum, and spinal cord. The hallmark lesions of NIFID were unique neuronal IF inclusions detected most robustly by antibodies to neurofilament triplet proteins and α-internexin.</p></sec><sec id="S5"><title>Conclusion</title><p id="P5">NIFID is a neuropathologically distinct, clinically heterogeneous variant of frontotemporal dementia (FTD) that may include parkinsonism or MND. Neuronal IF inclusions are the neuropathological signatures of NIFID that distinguish it from all other FTD variants including FTD with MND and FTD tauopathies.</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">0401060</journal-id><journal-id journal-id-type="pubmed-jr-id">6069</journal-id><journal-id journal-id-type="nlm-ta">Neurology</journal-id><journal-id journal-id-type="iso-abbrev">Neurology</journal-id><journal-title-group><journal-title>Neurology</journal-title></journal-title-group><issn pub-type="ppub">0028-3878</issn><issn pub-type="epub">1526-632X</issn></journal-meta><article-meta><article-id pub-id-type="pmid">15505152</article-id><article-id pub-id-type="pmc">3516854</article-id><article-id pub-id-type="manuscript">NIHMS3834</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Cairns</surname><given-names>N.J.</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Grossman</surname><given-names>M.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Arnold</surname><given-names>S.E.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Burn</surname><given-names>D.J.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Jaros</surname><given-names>E.</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Perry</surname><given-names>R.H.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Duyckaerts</surname><given-names>C.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Stankoff</surname><given-names>B.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Pillon</surname><given-names>B.</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Skullerud</surname><given-names>K.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Cruz-Sanchez</surname><given-names>F.F.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Bigio</surname><given-names>E.H.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Mackenzie</surname><given-names>I.R.A.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Gearing</surname><given-names>M.</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Juncos</surname><given-names>J.L.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Glass</surname><given-names>J.D.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Yokoo</surname><given-names>H.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Nakazato</surname><given-names>Y.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Mosaheb</surname><given-names>S.</given-names></name><degrees>BSc</degrees></contrib><contrib contrib-type="author"><name><surname>Thorpe</surname><given-names>J.R.</given-names></name><degrees>DPhil</degrees></contrib><contrib contrib-type="author"><name><surname>Uryu</surname><given-names>K.</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>V.M.-Y.</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Trojanowski</surname><given-names>J.Q.</given-names></name><degrees>MD, PhD</degrees></contrib><aff id="A1">From the Center for Neurodegenerative Disease Research (Drs. Cairns, Uryu, Lee, and Trojanowski), Department of Pathology and Laboratory Medicine and Institute on Aging, and Departments of Neurology (Dr. Grossman) and Psychiatry (Dr. Arnold), University of Pennsylvania School of Medicine, Philadelphia, PA, Department of Neuropathology (Dr. Bigio), Northwestern University Medical School, Chicago, IL, and Department of Pathology and Laboratory Medicine and Center for Neurodegenerative Disease (Dr. Gearing) and Department of Neurology (Drs. Juncos and Glass), Emory University School of Medicine, Atlanta, GA; Departments of Neurology (Dr. Burn) and Neuropathology (Drs. Jaros and Perry), Newcastle General Hospital, Newcastle-upon-Tyne, and Electron Microscope Division (S. Mosaheb and J.R. Thorpe), School of Life Sciences, University of Sussex, Brighton, UK; Laboratoire de Neuropathologie (Dr. Duyckaerts) and Federation de Neurologie (Drs. Stankoff and Pillon), Hôpital de la Salpêtrière, Paris, France; Department of Pathology (Dr. Skullerud), Rikshospitalet, Oslo, Norway; Institute of Neurological and Gerontological Sciences (Dr. Cruz-Sanchez), International University of Catalonia, Barcelona, Spain; Department of Pathology and Laboratory Medicine (Dr. Mackenzie), Vancouver General Hospital, British Columbia, Canada; and Department of Pathology (Drs. Yokoo and Nakazato), Gunma University School of Medicine, Maebashi, Japan.</aff></contrib-group><author-notes><corresp id="cor1">Address correspondence and reprint request to Prof. Nigel J. Cairns, Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, Saint Louis, MO 63110; e-mail: <email>cairnsn@abraxas.wustl.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>7</day><month>4</month><year>2009</year></pub-date><pub-date pub-type="ppub"><day>26</day><month>10</month><year>2004</year></pub-date><pub-date pub-type="pmc-release"><day>07</day><month>12</month><year>2012</year></pub-date><volume>63</volume><issue>8</issue><fpage>1376</fpage><lpage>1384</lpage><permissions><copyright-statement>Copyright © 2004 by AAN Enterprises, Inc.</copyright-statement><copyright-year>2004</copyright-year></permissions><abstract><sec id="S1"><title>Background</title><p id="P1">Recently described neuronal intermediate filament inclusion disease (NIFID) shows considerable clinical heterogeneity.</p></sec><sec id="S2"><title>Objective</title><p id="P2">To assess the spectrum of the clinical and neuropathological features in 10 NIFID cases.</p></sec><sec id="S3"><title>Methods</title><p id="P3">Retrospective chart and comprehensive neuropathological review of these NIFID cases was conducted.</p></sec><sec id="S4"><title>Results</title><p id="P4">The mean age at onset was 40.8 (range 23 to 56) years, mean disease duration was 4.5 (range 2.7 to 13) years, and mean age at death was 45.3 (range 28 to 61) years. The most common presenting symptoms were behavioral and personality changes in 7 of 10 cases and, less often, memory loss, cognitive impairment, language deficits, and motor weakness. Extrapyramidal features were present in 8 of 10 patients. Language impairment, perseveration, executive dysfunction, hyperreflexia, and primitive reflexes were frequent signs, whereas a minority had buccofacial apraxia, supranuclear ophthalmoplegia, upper motor neuron disease (MND), and limb dystonia. Frontotemporal and caudate atrophy were common. Histologic changes were extensive in many cortical areas, deep gray matter, cerebellum, and spinal cord. The hallmark lesions of NIFID were unique neuronal IF inclusions detected most robustly by antibodies to neurofilament triplet proteins and α-internexin.</p></sec><sec id="S5"><title>Conclusion</title><p id="P5">NIFID is a neuropathologically distinct, clinically heterogeneous variant of frontotemporal dementia (FTD) that may include parkinsonism or MND. Neuronal IF inclusions are the neuropathological signatures of NIFID that distinguish it from all other FTD variants including FTD with MND and FTD tauopathies.</p></sec></abstract><funding-group><award-group><funding-source country="United States">National Institute on Aging : NIA</funding-source><award-id>P30 AG010124-09 || AG</award-id></award-group><award-group><funding-source country="United States">National Institute on Aging : NIA</funding-source><award-id>P01 AG017586-06 || AG</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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