G2019S mutation in the leucine‐rich repeat kinase 2 gene is not associated with multiple system atrophy
Identifieur interne : 003421 ( Istex/Curation ); précédent : 003420; suivant : 003422G2019S mutation in the leucine‐rich repeat kinase 2 gene is not associated with multiple system atrophy
Auteurs : Laurie J. Ozelius [États-Unis] ; Tatiana Foroud [États-Unis] ; Susanne May [États-Unis] ; Geetha Senthil [États-Unis] ; Paola Sandroni [États-Unis] ; Phillip A. Low [États-Unis] ; Stephen Reich [États-Unis] ; Amy Colcher [États-Unis] ; Matthew B. Stern [États-Unis] ; William G. Ondo [États-Unis] ; Joseph Jankovic [États-Unis] ; Neng Huang [États-Unis] ; Caroline M. Tanner [États-Unis] ; Peter Novak [États-Unis] ; Sid Gilman [États-Unis] ; Frederick J. Marshall [États-Unis] ; G. Frederick Wooten [États-Unis] ; Thomas C. Chelimsky [États-Unis] ; Clifford W. Shults [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-03-15.
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Abstract
Multiple system atrophy (MSA) is characterized clinically by Parkinsonism, cerebellar dysfunction, and autonomic impairment. Multiple mutations in the LRRK2 gene are associated with parkinsonian disorders, and the most common one, the G2019S mutation, has been found in ∼1% of sporadic cases of Parkinsonism. In a well‐characterized cohort of 136 subjects with probable MSA and 110 neurologically evaluated control subjects, none carried the G2019S mutation. We conclude that the G2019S mutation in the LRRK2 gene is unlikely to be associated with MSA. © 2007 Movement Disorder Society
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DOI: 10.1002/mds.21343
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Ozelius</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York</wicri:regionArea></affiliation></author><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana</wicri:regionArea></affiliation></author><author><name sortKey="May, Susanne" sort="May, Susanne" uniqKey="May S" first="Susanne" last="May">Susanne May</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurosciences, University of California, La Jolla, San Diego, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurosciences, University of California, La Jolla, San Diego, California</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Family and Preventive Medicine, University of California, La Jolla, San Diego, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Family and Preventive Medicine, University of California, La Jolla, San Diego, California</wicri:regionArea></affiliation></author><author><name sortKey="Senthil, Geetha" sort="Senthil, Geetha" uniqKey="Senthil G" first="Geetha" last="Senthil">Geetha Senthil</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York</wicri:regionArea></affiliation></author><author><name sortKey="Sandroni, Paola" sort="Sandroni, Paola" uniqKey="Sandroni P" first="Paola" last="Sandroni">Paola Sandroni</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea></affiliation></author><author><name sortKey="Low, Phillip A" sort="Low, Phillip A" uniqKey="Low P" first="Phillip A." last="Low">Phillip A. 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Stern</name><affiliation wicri:level="1"><mods:affiliation>Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital, Philadelphia, Pennsylvania, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital, Philadelphia, Pennsylvania</wicri:regionArea></affiliation></author><author><name sortKey="Ondo, William G" sort="Ondo, William G" uniqKey="Ondo W" first="William G." last="Ondo">William G. Ondo</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Baylor College of Medicine, Houston, Texas</wicri:regionArea></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Baylor College of Medicine, Houston, Texas</wicri:regionArea></affiliation></author><author><name sortKey="Huang, Neng" sort="Huang, Neng" uniqKey="Huang N" first="Neng" last="Huang">Neng Huang</name><affiliation wicri:level="1"><mods:affiliation>Parkinson's Institute, Sunnyvale, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Institute, Sunnyvale, California</wicri:regionArea></affiliation></author><author><name sortKey="Tanner, Caroline M" sort="Tanner, Caroline M" uniqKey="Tanner C" first="Caroline M." last="Tanner">Caroline M. Tanner</name><affiliation wicri:level="1"><mods:affiliation>Parkinson's Institute, Sunnyvale, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Institute, Sunnyvale, California</wicri:regionArea></affiliation></author><author><name sortKey="Novak, Peter" sort="Novak, Peter" uniqKey="Novak P" first="Peter" last="Novak">Peter Novak</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Boston University, Boston, Massachusetts, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Gilman, Sid" sort="Gilman, Sid" uniqKey="Gilman S" first="Sid" last="Gilman">Sid Gilman</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Michigan, Ann Arbor, Michigan</wicri:regionArea></affiliation></author><author><name sortKey="Marshall, Frederick J" sort="Marshall, Frederick J" uniqKey="Marshall F" first="Frederick J." last="Marshall">Frederick J. Marshall</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Rochester, Rochester, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Rochester, Rochester, New York</wicri:regionArea></affiliation></author><author><name sortKey="Wooten, G Frederick" sort="Wooten, G Frederick" uniqKey="Wooten G" first="G. Frederick" last="Wooten">G. Frederick Wooten</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Virginia Health System, Charlottesville, Virginia, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Virginia Health System, Charlottesville, Virginia</wicri:regionArea></affiliation></author><author><name sortKey="Chelimsky, Thomas C" sort="Chelimsky, Thomas C" uniqKey="Chelimsky T" first="Thomas C." last="Chelimsky">Thomas C. Chelimsky</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Case Western Reserve University, Cleveland, Ohio, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Case Western Reserve University, Cleveland, Ohio</wicri:regionArea></affiliation></author><author><name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurosciences, University of California, La Jolla, San Diego, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurosciences, University of California, La Jolla, San Diego, California</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Veterans Affairs San Diego Healthcare System, San Diego, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Veterans Affairs San Diego Healthcare System, San Diego, California</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:42663CCCC2F1E080310549C4F567A062D0519704</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21343</idno><idno type="url">https://api.istex.fr/document/42663CCCC2F1E080310549C4F567A062D0519704/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003421</idno><idno type="wicri:Area/Istex/Curation">003421</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">G2019S mutation in the leucine‐rich repeat kinase 2 gene is not associated with multiple system atrophy</title><author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York</wicri:regionArea></affiliation></author><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana</wicri:regionArea></affiliation></author><author><name sortKey="May, Susanne" sort="May, Susanne" uniqKey="May S" first="Susanne" last="May">Susanne May</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurosciences, University of California, La Jolla, San Diego, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurosciences, University of California, La Jolla, San Diego, California</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Family and Preventive Medicine, University of California, La Jolla, San Diego, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Family and Preventive Medicine, University of California, La Jolla, San Diego, California</wicri:regionArea></affiliation></author><author><name sortKey="Senthil, Geetha" sort="Senthil, Geetha" uniqKey="Senthil G" first="Geetha" last="Senthil">Geetha Senthil</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York</wicri:regionArea></affiliation></author><author><name sortKey="Sandroni, Paola" sort="Sandroni, Paola" uniqKey="Sandroni P" first="Paola" last="Sandroni">Paola Sandroni</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea></affiliation></author><author><name sortKey="Low, Phillip A" sort="Low, Phillip A" uniqKey="Low P" first="Phillip A." last="Low">Phillip A. Low</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea></affiliation></author><author><name sortKey="Reich, Stephen" sort="Reich, Stephen" uniqKey="Reich S" first="Stephen" last="Reich">Stephen Reich</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, School of Medicine, University of Maryland, Baltimore, Maryland, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, School of Medicine, University of Maryland, Baltimore, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Colcher, Amy" sort="Colcher, Amy" uniqKey="Colcher A" first="Amy" last="Colcher">Amy Colcher</name><affiliation wicri:level="1"><mods:affiliation>Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital, Philadelphia, Pennsylvania, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital, Philadelphia, Pennsylvania</wicri:regionArea></affiliation></author><author><name sortKey="Stern, Matthew B" sort="Stern, Matthew B" uniqKey="Stern M" first="Matthew B." last="Stern">Matthew B. Stern</name><affiliation wicri:level="1"><mods:affiliation>Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital, Philadelphia, Pennsylvania, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital, Philadelphia, Pennsylvania</wicri:regionArea></affiliation></author><author><name sortKey="Ondo, William G" sort="Ondo, William G" uniqKey="Ondo W" first="William G." last="Ondo">William G. Ondo</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Baylor College of Medicine, Houston, Texas</wicri:regionArea></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Baylor College of Medicine, Houston, Texas</wicri:regionArea></affiliation></author><author><name sortKey="Huang, Neng" sort="Huang, Neng" uniqKey="Huang N" first="Neng" last="Huang">Neng Huang</name><affiliation wicri:level="1"><mods:affiliation>Parkinson's Institute, Sunnyvale, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Institute, Sunnyvale, California</wicri:regionArea></affiliation></author><author><name sortKey="Tanner, Caroline M" sort="Tanner, Caroline M" uniqKey="Tanner C" first="Caroline M." last="Tanner">Caroline M. Tanner</name><affiliation wicri:level="1"><mods:affiliation>Parkinson's Institute, Sunnyvale, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Institute, Sunnyvale, California</wicri:regionArea></affiliation></author><author><name sortKey="Novak, Peter" sort="Novak, Peter" uniqKey="Novak P" first="Peter" last="Novak">Peter Novak</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Boston University, Boston, Massachusetts, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Boston University, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Gilman, Sid" sort="Gilman, Sid" uniqKey="Gilman S" first="Sid" last="Gilman">Sid Gilman</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Michigan, Ann Arbor, Michigan</wicri:regionArea></affiliation></author><author><name sortKey="Marshall, Frederick J" sort="Marshall, Frederick J" uniqKey="Marshall F" first="Frederick J." last="Marshall">Frederick J. Marshall</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Rochester, Rochester, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Rochester, Rochester, New York</wicri:regionArea></affiliation></author><author><name sortKey="Wooten, G Frederick" sort="Wooten, G Frederick" uniqKey="Wooten G" first="G. Frederick" last="Wooten">G. Frederick Wooten</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Virginia Health System, Charlottesville, Virginia, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Virginia Health System, Charlottesville, Virginia</wicri:regionArea></affiliation></author><author><name sortKey="Chelimsky, Thomas C" sort="Chelimsky, Thomas C" uniqKey="Chelimsky T" first="Thomas C." last="Chelimsky">Thomas C. Chelimsky</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Case Western Reserve University, Cleveland, Ohio, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Case Western Reserve University, Cleveland, Ohio</wicri:regionArea></affiliation></author><author><name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurosciences, University of California, La Jolla, San Diego, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurosciences, University of California, La Jolla, San Diego, California</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Veterans Affairs San Diego Healthcare System, San Diego, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Veterans Affairs San Diego Healthcare System, San Diego, California</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-03-15">2007-03-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="546">546</biblScope><biblScope unit="page" to="549">549</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">42663CCCC2F1E080310549C4F567A062D0519704</idno><idno type="DOI">10.1002/mds.21343</idno><idno type="ArticleID">MDS21343</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>LRRK2</term><term>Parkinsonism</term><term>multiple system atrophy</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Multiple system atrophy (MSA) is characterized clinically by Parkinsonism, cerebellar dysfunction, and autonomic impairment. Multiple mutations in the LRRK2 gene are associated with parkinsonian disorders, and the most common one, the G2019S mutation, has been found in ∼1% of sporadic cases of Parkinsonism. In a well‐characterized cohort of 136 subjects with probable MSA and 110 neurologically evaluated control subjects, none carried the G2019S mutation. We conclude that the G2019S mutation in the LRRK2 gene is unlikely to be associated with MSA. © 2007 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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