MovDisordV3, Main, Merge, bibRecord, 004255

G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy

Identifieur interne : 004255 ( Main/Merge ); précédent : 004254; suivant : 004256

G2019S 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.

RBID : Pascal:07-0210956

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Atrophie multisystématisée, Parkinsonisme, Mutation, Leucine, Kinase.

English descriptors

KwdEn :
- Kinase, Leucine, Multiple system atrophy, Mutation, Nervous system diseases, Parkinsonism.

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.

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Pascal:07-0210956

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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="2"><inist:fA14 i1="01"><s1>Department of Molecular Genetics, Albert Einstein College of Medicine</s1>
<s2>Bronx, New York</s2>
<s3>USA</s3>
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<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
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<author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Medical and Molecular Genetics, Indiana University</s1>
<s2>Indianapolis, Indiana</s2>
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<placeName><region type="state">Indiana</region>
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<author><name sortKey="May, Susanne" sort="May, Susanne" uniqKey="May S" first="Susanne" last="May">Susanne May</name>
<affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Neurosciences, University of California, La Jolla</s1>
<s2>San Diego, California</s2>
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<placeName><region type="state">Californie</region>
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<affiliation wicri:level="2"><inist:fA14 i1="04"><s1>Department of Family and Preventive Medicine, University of California, La Jolla</s1>
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<author><name sortKey="Senthil, Geetha" sort="Senthil, Geetha" uniqKey="Senthil G" first="Geetha" last="Senthil">Geetha Senthil</name>
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<author><name sortKey="Sandroni, Paola" sort="Sandroni, Paola" uniqKey="Sandroni P" first="Paola" last="Sandroni">Paola Sandroni</name>
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<author><name sortKey="Low, Phillip A" sort="Low, Phillip A" uniqKey="Low P" first="Phillip A." last="Low">Phillip A. Low</name>
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<author><name sortKey="Reich, Stephen" sort="Reich, Stephen" uniqKey="Reich S" first="Stephen" last="Reich">Stephen Reich</name>
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<author><name sortKey="Stern, Matthew B" sort="Stern, Matthew B" uniqKey="Stern M" first="Matthew B." last="Stern">Matthew B. Stern</name>
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<author><name sortKey="Ondo, William G" sort="Ondo, William G" uniqKey="Ondo W" first="William G." last="Ondo">William G. Ondo</name>
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<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
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<s2>Houston, Texas</s2>
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</placeName>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university" n="3">Baylor College of Medicine</orgName>
</affiliation>
</author>
<author><name sortKey="Neng Huang" sort="Neng Huang" uniqKey="Neng Huang" last="Neng Huang">NENG HUANG</name>
<affiliation wicri:level="2"><inist:fA14 i1="09"><s1>Parkinson's Institute</s1>
<s2>Sunnyvale, California</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</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="2"><inist:fA14 i1="09"><s1>Parkinson's Institute</s1>
<s2>Sunnyvale, California</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Novak, Peter" sort="Novak, Peter" uniqKey="Novak P" first="Peter" last="Novak">Peter Novak</name>
<affiliation wicri:level="2"><inist:fA14 i1="10"><s1>Department of Neurology, Boston University</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gilman, Sid" sort="Gilman, Sid" uniqKey="Gilman S" first="Sid" last="Gilman">Sid Gilman</name>
<affiliation wicri:level="2"><inist:fA14 i1="11"><s1>Department of Neurology, University of Michigan</s1>
<s2>Ann Arbor, Michigan</s2>
<s3>USA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Michigan</region>
</placeName>
</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="2"><inist:fA14 i1="12"><s1>Department of Neurology, University of Rochester</s1>
<s2>Rochester, New York</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
</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="2"><inist:fA14 i1="13"><s1>Department of Neurology, University of Virginia Health System</s1>
<s2>Charlottesville, Virginia</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Virginie</region>
</placeName>
</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="2"><inist:fA14 i1="14"><s1>Department of Neurology, Case Western Reserve University</s1>
<s2>Cleveland, Ohio</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Ohio</region>
</placeName>
</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="2"><inist:fA14 i1="03"><s1>Department of Neurosciences, University of California, La Jolla</s1>
<s2>San Diego, California</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="15"><s1>Veterans Affairs San Diego Healthcare System</s1>
<s2>San Diego, California</s2>
<s3>USA</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Kinase</term>
<term>Leucine</term>
<term>Multiple system atrophy</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinsonism</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Atrophie multisystématisée</term>
<term>Parkinsonisme</term>
<term>Mutation</term>
<term>Leucine</term>
<term>Kinase</term>
</keywords>
</textClass>
</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.</div>
</front>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Indiana</li>
<li>Maryland</li>
<li>Massachusetts</li>
<li>Michigan</li>
<li>Minnesota</li>
<li>Ohio</li>
<li>Pennsylvanie</li>
<li>Texas</li>
<li>Virginie</li>
<li>État de New York</li>
</region>
<settlement><li>Houston</li>
</settlement>
<orgName><li>Baylor College of Medicine</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="État de New York"><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
</region>
<name sortKey="Chelimsky, Thomas C" sort="Chelimsky, Thomas C" uniqKey="Chelimsky T" first="Thomas C." last="Chelimsky">Thomas C. Chelimsky</name>
<name sortKey="Colcher, Amy" sort="Colcher, Amy" uniqKey="Colcher A" first="Amy" last="Colcher">Amy Colcher</name>
<name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
<name sortKey="Gilman, Sid" sort="Gilman, Sid" uniqKey="Gilman S" first="Sid" last="Gilman">Sid Gilman</name>
<name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<name sortKey="Low, Phillip A" sort="Low, Phillip A" uniqKey="Low P" first="Phillip A." last="Low">Phillip A. Low</name>
<name sortKey="Marshall, Frederick J" sort="Marshall, Frederick J" uniqKey="Marshall F" first="Frederick J." last="Marshall">Frederick J. Marshall</name>
<name sortKey="May, Susanne" sort="May, Susanne" uniqKey="May S" first="Susanne" last="May">Susanne May</name>
<name sortKey="May, Susanne" sort="May, Susanne" uniqKey="May S" first="Susanne" last="May">Susanne May</name>
<name sortKey="Neng Huang" sort="Neng Huang" uniqKey="Neng Huang" last="Neng Huang">NENG HUANG</name>
<name sortKey="Novak, Peter" sort="Novak, Peter" uniqKey="Novak P" first="Peter" last="Novak">Peter Novak</name>
<name sortKey="Ondo, William G" sort="Ondo, William G" uniqKey="Ondo W" first="William G." last="Ondo">William G. Ondo</name>
<name sortKey="Reich, Stephen" sort="Reich, Stephen" uniqKey="Reich S" first="Stephen" last="Reich">Stephen Reich</name>
<name sortKey="Sandroni, Paola" sort="Sandroni, Paola" uniqKey="Sandroni P" first="Paola" last="Sandroni">Paola Sandroni</name>
<name sortKey="Senthil, Geetha" sort="Senthil, Geetha" uniqKey="Senthil G" first="Geetha" last="Senthil">Geetha Senthil</name>
<name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name>
<name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name>
<name sortKey="Stern, Matthew B" sort="Stern, Matthew B" uniqKey="Stern M" first="Matthew B." last="Stern">Matthew B. Stern</name>
<name sortKey="Tanner, Caroline M" sort="Tanner, Caroline M" uniqKey="Tanner C" first="Caroline M." last="Tanner">Caroline M. Tanner</name>
<name sortKey="Wooten, G Frederick" sort="Wooten, G Frederick" uniqKey="Wooten G" first="G. Frederick" last="Wooten">G. Frederick Wooten</name>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy

G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy

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