Clinical Correlations With Lewy Body Pathology in LRRK2-Related Parkinson Disease
Identifieur interne : 000772 ( Pmc/Curation ); précédent : 000771; suivant : 000773Clinical Correlations With Lewy Body Pathology in LRRK2-Related Parkinson Disease
Auteurs : Lorraine V. Kalia ; Anthony E. Lang ; Lili-Naz Hazrati ; Shinsuke Fujioka ; Zbigniew K. Wszolek ; Dennis W. Dickson ; Owen A. Ross ; Vivianna M. Van Deerlin ; John Q. Trojanowski ; Howard I. Hurtig ; Roy N. Alcalay ; Karen S. Marder ; Lorraine N. Clark ; Carles Gaig ; Eduardo Tolosa ; Javier Ruiz-Martínez ; Jose F. Marti-Masso ; Isidre Ferrer ; Adolfo L Pez De Munain ; Samuel M. Goldman ; Birgitt Schüle ; J. William Langston ; Jan O. Aasly ; Maria T. Giordana ; Vincenzo Bonifati ; Andreas Puschmann ; Margherita Canesi ; Gianni Pezzoli ; Andre Maues De Paula ; Kazuko Hasegawa ; Charles Duyckaerts ; Alexis Brice ; A. Jon Stoessl ; Connie MarrasSource :
- JAMA neurology [ 2168-6149 ] ; 2015.
Abstract
Mutations in leucine-rich repeat kinase 2 (
We describe genetic, clinical, and neuropathological findings of 37 cases of
To our knowledge, this is the first report of clinicopathological correlations in a series of
Url:
DOI: 10.1001/jamaneurol.2014.2704
PubMed: 25401511
PubMed Central: 4399368
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Jon" last="Stoessl">A. Jon Stoessl</name></author><author><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25401511</idno><idno type="pmc">4399368</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399368</idno><idno type="RBID">PMC:4399368</idno><idno type="doi">10.1001/jamaneurol.2014.2704</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000772</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000772</idno><idno type="wicri:Area/Pmc/Curation">000772</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000772</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Clinical Correlations With Lewy Body Pathology in <italic>LRRK2</italic>-Related Parkinson Disease</title><author><name sortKey="Kalia, Lorraine V" sort="Kalia, Lorraine V" uniqKey="Kalia L" first="Lorraine V." last="Kalia">Lorraine V. Kalia</name></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name></author><author><name sortKey="Hazrati, Lili Naz" sort="Hazrati, Lili Naz" uniqKey="Hazrati L" first="Lili-Naz" last="Hazrati">Lili-Naz Hazrati</name></author><author><name sortKey="Fujioka, Shinsuke" sort="Fujioka, Shinsuke" uniqKey="Fujioka S" first="Shinsuke" last="Fujioka">Shinsuke Fujioka</name></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name></author><author><name sortKey="Van Deerlin, Vivianna M" sort="Van Deerlin, Vivianna M" uniqKey="Van Deerlin V" first="Vivianna M." last="Van Deerlin">Vivianna M. Van Deerlin</name></author><author><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q." last="Trojanowski">John Q. Trojanowski</name></author><author><name sortKey="Hurtig, Howard I" sort="Hurtig, Howard I" uniqKey="Hurtig H" first="Howard I." last="Hurtig">Howard I. Hurtig</name></author><author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N." last="Alcalay">Roy N. Alcalay</name></author><author><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S." last="Marder">Karen S. Marder</name></author><author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name></author><author><name sortKey="Gaig, Carles" sort="Gaig, Carles" uniqKey="Gaig C" first="Carles" last="Gaig">Carles Gaig</name></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name></author><author><name sortKey="Ruiz Martinez, Javier" sort="Ruiz Martinez, Javier" uniqKey="Ruiz Martinez J" first="Javier" last="Ruiz-Martínez">Javier Ruiz-Martínez</name></author><author><name sortKey="Marti Masso, Jose F" sort="Marti Masso, Jose F" uniqKey="Marti Masso J" first="Jose F." last="Marti-Masso">Jose F. Marti-Masso</name></author><author><name sortKey="Ferrer, Isidre" sort="Ferrer, Isidre" uniqKey="Ferrer I" first="Isidre" last="Ferrer">Isidre Ferrer</name></author><author><name sortKey="De Munain, Adolfo L Pez" sort="De Munain, Adolfo L Pez" uniqKey="De Munain A" first="Adolfo L Pez" last="De Munain">Adolfo L Pez De Munain</name></author><author><name sortKey="Goldman, Samuel M" sort="Goldman, Samuel M" uniqKey="Goldman S" first="Samuel M." last="Goldman">Samuel M. Goldman</name></author><author><name sortKey="Schule, Birgitt" sort="Schule, Birgitt" uniqKey="Schule B" first="Birgitt" last="Schüle">Birgitt Schüle</name></author><author><name sortKey="Langston, J William" sort="Langston, J William" uniqKey="Langston J" first="J. William" last="Langston">J. William Langston</name></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name></author><author><name sortKey="Giordana, Maria T" sort="Giordana, Maria T" uniqKey="Giordana M" first="Maria T." last="Giordana">Maria T. Giordana</name></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></author><author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name></author><author><name sortKey="Canesi, Margherita" sort="Canesi, Margherita" uniqKey="Canesi M" first="Margherita" last="Canesi">Margherita Canesi</name></author><author><name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name></author><author><name sortKey="De Paula, Andre Maues" sort="De Paula, Andre Maues" uniqKey="De Paula A" first="Andre Maues" last="De Paula">Andre Maues De Paula</name></author><author><name sortKey="Hasegawa, Kazuko" sort="Hasegawa, Kazuko" uniqKey="Hasegawa K" first="Kazuko" last="Hasegawa">Kazuko Hasegawa</name></author><author><name sortKey="Duyckaerts, Charles" sort="Duyckaerts, Charles" uniqKey="Duyckaerts C" first="Charles" last="Duyckaerts">Charles Duyckaerts</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A. Jon" last="Stoessl">A. Jon Stoessl</name></author><author><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name></author></analytic><series><title level="j">JAMA neurology</title><idno type="ISSN">2168-6149</idno><idno type="eISSN">2168-6157</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>IMPORTANCE</title><p id="P1">Mutations in leucine-rich repeat kinase 2 (<italic>LRRK2</italic>) are the most common cause of genetic Parkinson disease (PD) known to date. The clinical features of manifesting <italic>LRRK2</italic> mutation carriers are generally indistinguishable from those of patients with sporadic PD. However, some PD cases associated with <italic>LRRK2</italic> mutations lack Lewy bodies (LBs), a neuropathological hallmark of PD. We investigated whether the presence or absence of LBs correlates with different clinical features in <italic>LRRK2</italic>-related PD.</p></sec><sec id="S2"><title>OBSERVATIONS</title><p id="P2">We describe genetic, clinical, and neuropathological findings of 37 cases of <italic>LRRK2</italic>-related PD including 33 published and 4 unpublished cases through October 2013. Among the different mutations, the <italic>LRRK2</italic> p.G2019S mutation was most frequently associated with LB pathology. Nonmotor features of cognitive impairment/dementia, anxiety, and orthostatic hypotension were correlated with the presence of LBs. In contrast, a primarily motor phenotype was associated with a lack of LBs.</p></sec><sec id="S3"><title>CONCLUSIONS AND RELEVANCE</title><p id="P3">To our knowledge, this is the first report of clinicopathological correlations in a series of <italic>LRRK2</italic>-related PD cases. Findings from this selected group of patients with PD demonstrated that parkinsonian motor features can occur in the absence of LBs. However, LB pathology in <italic>LRRK2</italic>-related PD may be a marker for a broader parkinsonian symptom complex including cognitive impairment.</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">101589536</journal-id><journal-id journal-id-type="pubmed-jr-id">40865</journal-id><journal-id journal-id-type="nlm-ta">JAMA Neurol</journal-id><journal-id journal-id-type="iso-abbrev">JAMA Neurol</journal-id><journal-title-group><journal-title>JAMA neurology</journal-title></journal-title-group><issn pub-type="ppub">2168-6149</issn><issn pub-type="epub">2168-6157</issn></journal-meta><article-meta><article-id pub-id-type="pmid">25401511</article-id><article-id pub-id-type="pmc">4399368</article-id><article-id pub-id-type="doi">10.1001/jamaneurol.2014.2704</article-id><article-id pub-id-type="manuscript">NIHMS678094</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Clinical Correlations With Lewy Body Pathology in <italic>LRRK2</italic>-Related Parkinson Disease</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Kalia</surname><given-names>Lorraine V.</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Lang</surname><given-names>Anthony E.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Hazrati</surname><given-names>Lili-Naz</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Fujioka</surname><given-names>Shinsuke</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Wszolek</surname><given-names>Zbigniew K.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Dickson</surname><given-names>Dennis W.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Ross</surname><given-names>Owen A.</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Van Deerlin</surname><given-names>Vivianna M.</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Trojanowski</surname><given-names>John Q.</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Hurtig</surname><given-names>Howard I.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Alcalay</surname><given-names>Roy N.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Marder</surname><given-names>Karen S.</given-names></name><degrees>MD, MPH</degrees></contrib><contrib contrib-type="author"><name><surname>Clark</surname><given-names>Lorraine N.</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Gaig</surname><given-names>Carles</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Tolosa</surname><given-names>Eduardo</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Ruiz-Martínez</surname><given-names>Javier</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Marti-Masso</surname><given-names>Jose F.</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Ferrer</surname><given-names>Isidre</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>de Munain</surname><given-names>Adolfo López</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Goldman</surname><given-names>Samuel M.</given-names></name><degrees>MD, MPH</degrees></contrib><contrib contrib-type="author"><name><surname>Schüle</surname><given-names>Birgitt</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Langston</surname><given-names>J. William</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Aasly</surname><given-names>Jan O.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Giordana</surname><given-names>Maria T.</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Bonifati</surname><given-names>Vincenzo</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Puschmann</surname><given-names>Andreas</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Canesi</surname><given-names>Margherita</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Pezzoli</surname><given-names>Gianni</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>De Paula</surname><given-names>Andre Maues</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Hasegawa</surname><given-names>Kazuko</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Duyckaerts</surname><given-names>Charles</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Brice</surname><given-names>Alexis</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Stoessl</surname><given-names>A. Jon</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Marras</surname><given-names>Connie</given-names></name><degrees>MD, PhD</degrees></contrib><aff id="A1">The Edmond J. Safra Program in Parkinson's Disease, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada (Kalia, Lang, Marras); Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada (Hazrati); Mayo Clinic, Jacksonville, Florida (Fujioka, Wszolek, Dickson, Ross); University of Pennsylvania, Philadelphia (Van Deerlin, Trojanowski, Hurtig); Columbia University, New York, New York (Alcalay, Marder, Clark); Hospital Clínic de Barcelona, Universitat de Barcelona, IDIBAPS, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Catalonia, Spain (Gaig, Tolosa); Hospital Universitario Donostia, CIBERNED, San Sebastián, Spain (Ruiz-Martínez, Marti-Masso, López de Munain); Bellvitge University Hospital, L’ Hospitalet de Llobregat, Barcelona, Spain (Ferrer); Veterans Affairs Medical Center, San Francisco, California (Goldman); The Parkinson's Institute, Sunnyvale, California (Schüle, Langston); St Olavs Hospital, Trondheim, Norway (Aasly); University of Turin, Turin, Italy (Giordana); Erasmus MC, Rotterdam, the Netherlands (Bonifati); Skåne University Hospital and Lund University, Lund, Sweden (Puschmann); Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy (Canesi, Pezzoli); Centre Hospitalier Universitaire La Timone, Marseille, France (Maues De Paula); Sagamihara National Hospital, Kanagawa, Japan (Hasegawa); Sorbonne Université, Pierre and Marie Curie University, Institut du Cerveau et de la Moelle Epinière, Institut National de la Santé et de la Recherche Médicale, Centre national de la recherche scientique, Paris, France (Duyckaerts, Brice); University of British Columbia, Vancouver, British Columbia, Canada (Stoessl).</aff></contrib-group><author-notes><corresp id="CR1"><bold>Corresponding Author:</bold> Lorraine V. Kalia, MD, PhD, Movement Disorders Centre, Toronto Western Hospital, 399 Bathurst St, McL 7, Toronto, ON M5T 2S8, Canada (<email>lorraine.kalia@utoronto.ca</email>).</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>10</day><month>4</month><year>2015</year></pub-date><pub-date pub-type="ppub"><month>1</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>16</day><month>4</month><year>2015</year></pub-date><volume>72</volume><issue>1</issue><fpage>100</fpage><lpage>105</lpage><pmc-comment>elocation-id from pubmed: 10.1001/jamaneurol.2014.2704</pmc-comment>
<permissions><copyright-statement>Copyright 2014 American Medical Association. All rights reserved.</copyright-statement><copyright-year>2014</copyright-year></permissions><abstract><sec id="S1"><title>IMPORTANCE</title><p id="P1">Mutations in leucine-rich repeat kinase 2 (<italic>LRRK2</italic>) are the most common cause of genetic Parkinson disease (PD) known to date. The clinical features of manifesting <italic>LRRK2</italic> mutation carriers are generally indistinguishable from those of patients with sporadic PD. However, some PD cases associated with <italic>LRRK2</italic> mutations lack Lewy bodies (LBs), a neuropathological hallmark of PD. We investigated whether the presence or absence of LBs correlates with different clinical features in <italic>LRRK2</italic>-related PD.</p></sec><sec id="S2"><title>OBSERVATIONS</title><p id="P2">We describe genetic, clinical, and neuropathological findings of 37 cases of <italic>LRRK2</italic>-related PD including 33 published and 4 unpublished cases through October 2013. Among the different mutations, the <italic>LRRK2</italic> p.G2019S mutation was most frequently associated with LB pathology. Nonmotor features of cognitive impairment/dementia, anxiety, and orthostatic hypotension were correlated with the presence of LBs. In contrast, a primarily motor phenotype was associated with a lack of LBs.</p></sec><sec id="S3"><title>CONCLUSIONS AND RELEVANCE</title><p id="P3">To our knowledge, this is the first report of clinicopathological correlations in a series of <italic>LRRK2</italic>-related PD cases. Findings from this selected group of patients with PD demonstrated that parkinsonian motor features can occur in the absence of LBs. However, LB pathology in <italic>LRRK2</italic>-related PD may be a marker for a broader parkinsonian symptom complex including cognitive impairment.</p></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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