ParkinsonFranceV1, PubMed, Corpus, bibRecord, 000439

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.

Identifieur interne : 000439 ( PubMed/Corpus ); précédent : 000438; suivant : 000440

Clinical 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 Marras

Source :

JAMA neurology [ 2168-6157 ] ; 2015.

RBID : pubmed:25401511

English descriptors

KwdEn :
- Aged, Aged, 80 and over, Female, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Lewy Bodies (pathology), Male, Mutation (genetics), Parkinson Disease (genetics), Protein-Serine-Threonine Kinases (genetics), Severity of Illness Index, Statistics as Topic.
MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- chemical : Leucine-Rich Repeat Serine-Threonine Protein Kinase-2.
- genetics : Mutation, Parkinson Disease.
- pathology : Lewy Bodies.
- Aged, Aged, 80 and over, Female, Humans, Male, Severity of Illness Index, Statistics as Topic.

Abstract

Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of genetic Parkinson disease (PD) known to date. The clinical features of manifesting LRRK2 mutation carriers are generally indistinguishable from those of patients with sporadic PD. However, some PD cases associated with LRRK2 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 LRRK2-related PD.

DOI: 10.1001/jamaneurol.2014.2704
PubMed: 25401511

Links to Exploration step

pubmed:25401511

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical correlations with Lewy body pathology in LRRK2-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>
<affiliation><nlm:affiliation>The Edmond J. Safra Program in Parkinson's Disease, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name>
<affiliation><nlm:affiliation>The Edmond J. Safra Program in Parkinson's Disease, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hazrati, Lili Naz" sort="Hazrati, Lili Naz" uniqKey="Hazrati L" first="Lili-Naz" last="Hazrati">Lili-Naz Hazrati</name>
<affiliation><nlm:affiliation>Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Fujioka, Shinsuke" sort="Fujioka, Shinsuke" uniqKey="Fujioka S" first="Shinsuke" last="Fujioka">Shinsuke Fujioka</name>
<affiliation><nlm:affiliation>Mayo Clinic, Jacksonville, Florida.</nlm:affiliation>
</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:affiliation>Mayo Clinic, Jacksonville, Florida.</nlm:affiliation>
</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:affiliation>Mayo Clinic, Jacksonville, Florida.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name>
<affiliation><nlm:affiliation>Mayo Clinic, Jacksonville, Florida.</nlm:affiliation>
</affiliation>
</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>
<affiliation><nlm:affiliation>University of Pennsylvania, Philadelphia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q" last="Trojanowski">John Q. Trojanowski</name>
<affiliation><nlm:affiliation>University of Pennsylvania, Philadelphia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hurtig, Howard I" sort="Hurtig, Howard I" uniqKey="Hurtig H" first="Howard I" last="Hurtig">Howard I. Hurtig</name>
<affiliation><nlm:affiliation>University of Pennsylvania, Philadelphia.</nlm:affiliation>
</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><nlm:affiliation>Columbia University, New York, New York.</nlm:affiliation>
</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><nlm:affiliation>Columbia University, New York, New York.</nlm:affiliation>
</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><nlm:affiliation>Columbia University, New York, New York.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Gaig, Carles" sort="Gaig, Carles" uniqKey="Gaig C" first="Carles" last="Gaig">Carles Gaig</name>
<affiliation><nlm:affiliation>Hospital Clínic de Barcelona, Universitat de Barcelona, IDIBAPS, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Catalonia, Spain.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name>
<affiliation><nlm:affiliation>Hospital Clínic de Barcelona, Universitat de Barcelona, IDIBAPS, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Catalonia, Spain.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ruiz Martinez, Javier" sort="Ruiz Martinez, Javier" uniqKey="Ruiz Martinez J" first="Javier" last="Ruiz-Martínez">Javier Ruiz-Martínez</name>
<affiliation><nlm:affiliation>Hospital Universitario Donostia, CIBERNED, San Sebastián, Spain.</nlm:affiliation>
</affiliation>
</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>
<affiliation><nlm:affiliation>Hospital Universitario Donostia, CIBERNED, San Sebastián, Spain.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ferrer, Isidre" sort="Ferrer, Isidre" uniqKey="Ferrer I" first="Isidre" last="Ferrer">Isidre Ferrer</name>
<affiliation><nlm:affiliation>Bellvitge University Hospital, L' Hospitalet de Llobregat, Barcelona, Spain.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="L Pez De Munain, Adolfo" sort="L Pez De Munain, Adolfo" uniqKey="L Pez De Munain A" first="Adolfo" last="L Pez De Munain">Adolfo L Pez De Munain</name>
<affiliation><nlm:affiliation>Hospital Universitario Donostia, CIBERNED, San Sebastián, Spain.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Goldman, Samuel M" sort="Goldman, Samuel M" uniqKey="Goldman S" first="Samuel M" last="Goldman">Samuel M. Goldman</name>
<affiliation><nlm:affiliation>Veterans Affairs Medical Center, San Francisco, California.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Schule, Birgitt" sort="Schule, Birgitt" uniqKey="Schule B" first="Birgitt" last="Schüle">Birgitt Schüle</name>
<affiliation><nlm:affiliation>The Parkinson's Institute, Sunnyvale, California.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Langston, J William" sort="Langston, J William" uniqKey="Langston J" first="J William" last="Langston">J William Langston</name>
<affiliation><nlm:affiliation>The Parkinson's Institute, Sunnyvale, California.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name>
<affiliation><nlm:affiliation>St Olavs Hospital, Trondheim, Norway.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Giordana, Maria T" sort="Giordana, Maria T" uniqKey="Giordana M" first="Maria T" last="Giordana">Maria T. Giordana</name>
<affiliation><nlm:affiliation>University of Turin, Turin, Italy.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
<affiliation><nlm:affiliation>Erasmus MC, Rotterdam, the Netherlands.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
<affiliation><nlm:affiliation>Skåne University Hospital and Lund University, Lund, Sweden.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Canesi, Margherita" sort="Canesi, Margherita" uniqKey="Canesi M" first="Margherita" last="Canesi">Margherita Canesi</name>
<affiliation><nlm:affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name>
<affiliation><nlm:affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Maues De Paula, Andre" sort="Maues De Paula, Andre" uniqKey="Maues De Paula A" first="Andre" last="Maues De Paula">Andre Maues De Paula</name>
<affiliation><nlm:affiliation>Centre Hospitalier Universitaire La Timone, Marseille, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hasegawa, Kazuko" sort="Hasegawa, Kazuko" uniqKey="Hasegawa K" first="Kazuko" last="Hasegawa">Kazuko Hasegawa</name>
<affiliation><nlm:affiliation>Sagamihara National Hospital, Kanagawa, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Duyckaerts, Charles" sort="Duyckaerts, Charles" uniqKey="Duyckaerts C" first="Charles" last="Duyckaerts">Charles Duyckaerts</name>
<affiliation><nlm:affiliation>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.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation><nlm:affiliation>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.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A Jon" last="Stoessl">A Jon Stoessl</name>
<affiliation><nlm:affiliation>University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name>
<affiliation><nlm:affiliation>The Edmond J. Safra Program in Parkinson's Disease, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2015">2015</date>
<idno type="RBID">pubmed:25401511</idno>
<idno type="pmid">25401511</idno>
<idno type="doi">10.1001/jamaneurol.2014.2704</idno>
<idno type="wicri:Area/PubMed/Corpus">000439</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical correlations with Lewy body pathology in LRRK2-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>
<affiliation><nlm:affiliation>The Edmond J. Safra Program in Parkinson's Disease, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name>
<affiliation><nlm:affiliation>The Edmond J. Safra Program in Parkinson's Disease, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hazrati, Lili Naz" sort="Hazrati, Lili Naz" uniqKey="Hazrati L" first="Lili-Naz" last="Hazrati">Lili-Naz Hazrati</name>
<affiliation><nlm:affiliation>Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Fujioka, Shinsuke" sort="Fujioka, Shinsuke" uniqKey="Fujioka S" first="Shinsuke" last="Fujioka">Shinsuke Fujioka</name>
<affiliation><nlm:affiliation>Mayo Clinic, Jacksonville, Florida.</nlm:affiliation>
</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:affiliation>Mayo Clinic, Jacksonville, Florida.</nlm:affiliation>
</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:affiliation>Mayo Clinic, Jacksonville, Florida.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name>
<affiliation><nlm:affiliation>Mayo Clinic, Jacksonville, Florida.</nlm:affiliation>
</affiliation>
</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>
<affiliation><nlm:affiliation>University of Pennsylvania, Philadelphia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q" last="Trojanowski">John Q. Trojanowski</name>
<affiliation><nlm:affiliation>University of Pennsylvania, Philadelphia.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hurtig, Howard I" sort="Hurtig, Howard I" uniqKey="Hurtig H" first="Howard I" last="Hurtig">Howard I. Hurtig</name>
<affiliation><nlm:affiliation>University of Pennsylvania, Philadelphia.</nlm:affiliation>
</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><nlm:affiliation>Columbia University, New York, New York.</nlm:affiliation>
</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><nlm:affiliation>Columbia University, New York, New York.</nlm:affiliation>
</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><nlm:affiliation>Columbia University, New York, New York.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Gaig, Carles" sort="Gaig, Carles" uniqKey="Gaig C" first="Carles" last="Gaig">Carles Gaig</name>
<affiliation><nlm:affiliation>Hospital Clínic de Barcelona, Universitat de Barcelona, IDIBAPS, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Catalonia, Spain.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name>
<affiliation><nlm:affiliation>Hospital Clínic de Barcelona, Universitat de Barcelona, IDIBAPS, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Catalonia, Spain.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ruiz Martinez, Javier" sort="Ruiz Martinez, Javier" uniqKey="Ruiz Martinez J" first="Javier" last="Ruiz-Martínez">Javier Ruiz-Martínez</name>
<affiliation><nlm:affiliation>Hospital Universitario Donostia, CIBERNED, San Sebastián, Spain.</nlm:affiliation>
</affiliation>
</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>
<affiliation><nlm:affiliation>Hospital Universitario Donostia, CIBERNED, San Sebastián, Spain.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Ferrer, Isidre" sort="Ferrer, Isidre" uniqKey="Ferrer I" first="Isidre" last="Ferrer">Isidre Ferrer</name>
<affiliation><nlm:affiliation>Bellvitge University Hospital, L' Hospitalet de Llobregat, Barcelona, Spain.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="L Pez De Munain, Adolfo" sort="L Pez De Munain, Adolfo" uniqKey="L Pez De Munain A" first="Adolfo" last="L Pez De Munain">Adolfo L Pez De Munain</name>
<affiliation><nlm:affiliation>Hospital Universitario Donostia, CIBERNED, San Sebastián, Spain.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Goldman, Samuel M" sort="Goldman, Samuel M" uniqKey="Goldman S" first="Samuel M" last="Goldman">Samuel M. Goldman</name>
<affiliation><nlm:affiliation>Veterans Affairs Medical Center, San Francisco, California.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Schule, Birgitt" sort="Schule, Birgitt" uniqKey="Schule B" first="Birgitt" last="Schüle">Birgitt Schüle</name>
<affiliation><nlm:affiliation>The Parkinson's Institute, Sunnyvale, California.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Langston, J William" sort="Langston, J William" uniqKey="Langston J" first="J William" last="Langston">J William Langston</name>
<affiliation><nlm:affiliation>The Parkinson's Institute, Sunnyvale, California.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name>
<affiliation><nlm:affiliation>St Olavs Hospital, Trondheim, Norway.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Giordana, Maria T" sort="Giordana, Maria T" uniqKey="Giordana M" first="Maria T" last="Giordana">Maria T. Giordana</name>
<affiliation><nlm:affiliation>University of Turin, Turin, Italy.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
<affiliation><nlm:affiliation>Erasmus MC, Rotterdam, the Netherlands.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
<affiliation><nlm:affiliation>Skåne University Hospital and Lund University, Lund, Sweden.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Canesi, Margherita" sort="Canesi, Margherita" uniqKey="Canesi M" first="Margherita" last="Canesi">Margherita Canesi</name>
<affiliation><nlm:affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name>
<affiliation><nlm:affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Maues De Paula, Andre" sort="Maues De Paula, Andre" uniqKey="Maues De Paula A" first="Andre" last="Maues De Paula">Andre Maues De Paula</name>
<affiliation><nlm:affiliation>Centre Hospitalier Universitaire La Timone, Marseille, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hasegawa, Kazuko" sort="Hasegawa, Kazuko" uniqKey="Hasegawa K" first="Kazuko" last="Hasegawa">Kazuko Hasegawa</name>
<affiliation><nlm:affiliation>Sagamihara National Hospital, Kanagawa, Japan.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Duyckaerts, Charles" sort="Duyckaerts, Charles" uniqKey="Duyckaerts C" first="Charles" last="Duyckaerts">Charles Duyckaerts</name>
<affiliation><nlm:affiliation>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.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation><nlm:affiliation>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.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A Jon" last="Stoessl">A Jon Stoessl</name>
<affiliation><nlm:affiliation>University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name>
<affiliation><nlm:affiliation>The Edmond J. Safra Program in Parkinson's Disease, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation>
</affiliation>
</author>
</analytic>
<series><title level="j">JAMA neurology</title>
<idno type="eISSN">2168-6157</idno>
<imprint><date when="2015" type="published">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Humans</term>
<term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term>
<term>Lewy Bodies (pathology)</term>
<term>Male</term>
<term>Mutation (genetics)</term>
<term>Parkinson Disease (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Severity of Illness Index</term>
<term>Statistics as Topic</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lewy Bodies</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Severity of Illness Index</term>
<term>Statistics as Topic</term>
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<front><div type="abstract" xml:lang="en">Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of genetic Parkinson disease (PD) known to date. The clinical features of manifesting LRRK2 mutation carriers are generally indistinguishable from those of patients with sporadic PD. However, some PD cases associated with LRRK2 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 LRRK2-related PD.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25401511</PMID>
<DateCreated><Year>2015</Year>
<Month>01</Month>
<Day>13</Day>
</DateCreated>
<DateCompleted><Year>2015</Year>
<Month>03</Month>
<Day>18</Day>
</DateCompleted>
<DateRevised><Year>2016</Year>
<Month>11</Month>
<Day>25</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">2168-6157</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>72</Volume>
<Issue>1</Issue>
<PubDate><Year>2015</Year>
<Month>Jan</Month>
</PubDate>
</JournalIssue>
<Title>JAMA neurology</Title>
<ISOAbbreviation>JAMA Neurol</ISOAbbreviation>
</Journal>
<ArticleTitle>Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.</ArticleTitle>
<Pagination><MedlinePgn>100-5</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1001/jamaneurol.2014.2704</ELocationID>
<Abstract><AbstractText Label="IMPORTANCE" NlmCategory="OBJECTIVE">Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of genetic Parkinson disease (PD) known to date. The clinical features of manifesting LRRK2 mutation carriers are generally indistinguishable from those of patients with sporadic PD. However, some PD cases associated with LRRK2 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 LRRK2-related PD.</AbstractText>
<AbstractText Label="OBSERVATIONS" NlmCategory="METHODS">We describe genetic, clinical, and neuropathological findings of 37 cases of LRRK2-related PD including 33 published and 4 unpublished cases through October 2013. Among the different mutations, the LRRK2 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.</AbstractText>
<AbstractText Label="CONCLUSIONS AND RELEVANCE" NlmCategory="CONCLUSIONS">To our knowledge, this is the first report of clinicopathological correlations in a series of LRRK2-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 LRRK2-related PD may be a marker for a broader parkinsonian symptom complex including cognitive impairment.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kalia</LastName>
<ForeName>Lorraine V</ForeName>
<Initials>LV</Initials>
<AffiliationInfo><Affiliation>The Edmond J. Safra Program in Parkinson's Disease, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lang</LastName>
<ForeName>Anthony E</ForeName>
<Initials>AE</Initials>
<AffiliationInfo><Affiliation>The Edmond J. Safra Program in Parkinson's Disease, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hazrati</LastName>
<ForeName>Lili-Naz</ForeName>
<Initials>LN</Initials>
<AffiliationInfo><Affiliation>Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Fujioka</LastName>
<ForeName>Shinsuke</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Mayo Clinic, Jacksonville, Florida.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wszolek</LastName>
<ForeName>Zbigniew K</ForeName>
<Initials>ZK</Initials>
<AffiliationInfo><Affiliation>Mayo Clinic, Jacksonville, Florida.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Dickson</LastName>
<ForeName>Dennis W</ForeName>
<Initials>DW</Initials>
<AffiliationInfo><Affiliation>Mayo Clinic, Jacksonville, Florida.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ross</LastName>
<ForeName>Owen A</ForeName>
<Initials>OA</Initials>
<AffiliationInfo><Affiliation>Mayo Clinic, Jacksonville, Florida.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Van Deerlin</LastName>
<ForeName>Vivianna M</ForeName>
<Initials>VM</Initials>
<AffiliationInfo><Affiliation>University of Pennsylvania, Philadelphia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Trojanowski</LastName>
<ForeName>John Q</ForeName>
<Initials>JQ</Initials>
<AffiliationInfo><Affiliation>University of Pennsylvania, Philadelphia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hurtig</LastName>
<ForeName>Howard I</ForeName>
<Initials>HI</Initials>
<AffiliationInfo><Affiliation>University of Pennsylvania, Philadelphia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Alcalay</LastName>
<ForeName>Roy N</ForeName>
<Initials>RN</Initials>
<AffiliationInfo><Affiliation>Columbia University, New York, New York.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Marder</LastName>
<ForeName>Karen S</ForeName>
<Initials>KS</Initials>
<AffiliationInfo><Affiliation>Columbia University, New York, New York.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Clark</LastName>
<ForeName>Lorraine N</ForeName>
<Initials>LN</Initials>
<AffiliationInfo><Affiliation>Columbia University, New York, New York.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gaig</LastName>
<ForeName>Carles</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Hospital Clínic de Barcelona, Universitat de Barcelona, IDIBAPS, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Catalonia, Spain.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Tolosa</LastName>
<ForeName>Eduardo</ForeName>
<Initials>E</Initials>
<AffiliationInfo><Affiliation>Hospital Clínic de Barcelona, Universitat de Barcelona, IDIBAPS, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Catalonia, Spain.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ruiz-Martínez</LastName>
<ForeName>Javier</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Hospital Universitario Donostia, CIBERNED, San Sebastián, Spain.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Marti-Masso</LastName>
<ForeName>Jose F</ForeName>
<Initials>JF</Initials>
<AffiliationInfo><Affiliation>Hospital Universitario Donostia, CIBERNED, San Sebastián, Spain.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ferrer</LastName>
<ForeName>Isidre</ForeName>
<Initials>I</Initials>
<AffiliationInfo><Affiliation>Bellvitge University Hospital, L' Hospitalet de Llobregat, Barcelona, Spain.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>López de Munain</LastName>
<ForeName>Adolfo</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Hospital Universitario Donostia, CIBERNED, San Sebastián, Spain.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Goldman</LastName>
<ForeName>Samuel M</ForeName>
<Initials>SM</Initials>
<AffiliationInfo><Affiliation>Veterans Affairs Medical Center, San Francisco, California.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Schüle</LastName>
<ForeName>Birgitt</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>The Parkinson's Institute, Sunnyvale, California.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Langston</LastName>
<ForeName>J William</ForeName>
<Initials>JW</Initials>
<AffiliationInfo><Affiliation>The Parkinson's Institute, Sunnyvale, California.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Aasly</LastName>
<ForeName>Jan O</ForeName>
<Initials>JO</Initials>
<AffiliationInfo><Affiliation>St Olavs Hospital, Trondheim, Norway.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Giordana</LastName>
<ForeName>Maria T</ForeName>
<Initials>MT</Initials>
<AffiliationInfo><Affiliation>University of Turin, Turin, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bonifati</LastName>
<ForeName>Vincenzo</ForeName>
<Initials>V</Initials>
<AffiliationInfo><Affiliation>Erasmus MC, Rotterdam, the Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Puschmann</LastName>
<ForeName>Andreas</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Skåne University Hospital and Lund University, Lund, Sweden.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Canesi</LastName>
<ForeName>Margherita</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Pezzoli</LastName>
<ForeName>Gianni</ForeName>
<Initials>G</Initials>
<AffiliationInfo><Affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Maues De Paula</LastName>
<ForeName>Andre</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Centre Hospitalier Universitaire La Timone, Marseille, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hasegawa</LastName>
<ForeName>Kazuko</ForeName>
<Initials>K</Initials>
<AffiliationInfo><Affiliation>Sagamihara National Hospital, Kanagawa, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Duyckaerts</LastName>
<ForeName>Charles</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>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.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Brice</LastName>
<ForeName>Alexis</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>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.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Stoessl</LastName>
<ForeName>A Jon</ForeName>
<Initials>AJ</Initials>
<AffiliationInfo><Affiliation>University of British Columbia, Vancouver, British Columbia, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Marras</LastName>
<ForeName>Connie</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>The Edmond J. Safra Program in Parkinson's Disease, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
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<Acronym>AG</Acronym>
<Agency>NIA NIH HHS</Agency>
<Country>United States</Country>
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<Grant><GrantID>P01 AG 09215-20</GrantID>
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<Grant><GrantID>R01 NS078086</GrantID>
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<Country>United States</Country>
</Grant>
<Grant><GrantID>K02 NS080915</GrantID>
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<Grant><GrantID>P01 AG009215</GrantID>
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<Grant><GrantID>NINDS NS36630</GrantID>
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<PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>JAMA Neurol</MedlineTA>
<NlmUniqueID>101589536</NlmUniqueID>
<ISSNLinking>2168-6149</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber>
<NameOfSubstance UI="C495280">LRRK2 protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber>
<NameOfSubstance UI="D000071158">Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber>
<NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>AIM</CitationSubset>
<CitationSubset>IM</CitationSubset>
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<CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2005 Feb;20(2):190-9</RefSource>
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   |texte=   Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.
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	La maladie de Parkinson en France (serveur d'exploration)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

La maladie de Parkinson en France (serveur d'exploration)

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.

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