G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy
Identifieur interne : 001746 ( PascalFrancis/Corpus ); précédent : 001745; suivant : 001747G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy
Auteurs : Laurie J. Ozelius ; Tatiana Foroud ; Susanne May ; Geetha Senthil ; Paola Sandroni ; Phillip A. Low ; Stephen Reich ; Amy Colcher ; Matthew B. Stern ; William G. Ondo ; Joseph Jankovic ; NENG HUANG ; Caroline M. Tanner ; Peter Novak ; Sid Gilman ; Frederick J. Marshall ; G. Frederick Wooten ; Thomas C. Chelimsky ; Clifford W. ShultsSource :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
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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Format Inist (serveur)
NO : | PASCAL 07-0210956 INIST |
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ET : | G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy |
AU : | OZELIUS (Laurie J.); FOROUD (Tatiana); MAY (Susanne); SENTHIL (Geetha); SANDRONI (Paola); LOW (Phillip A.); REICH (Stephen); COLCHER (Amy); STERN (Matthew B.); ONDO (William G.); JANKOVIC (Joseph); NENG HUANG; TANNER (Caroline M.); NOVAK (Peter); GILMAN (Sid); MARSHALL (Frederick J.); WOOTEN (G. Frederick); CHELIMSKY (Thomas C.); SHULTS (Clifford W.) |
AF : | Department of Molecular Genetics, Albert Einstein College of Medicine/Bronx, New York/Etats-Unis (1 aut., 4 aut.); Department of Medical and Molecular Genetics, Indiana University/Indianapolis, Indiana/Etats-Unis (2 aut.); Department of Neurosciences, University of California, La Jolla/San Diego, California/Etats-Unis (3 aut., 19 aut.); Department of Family and Preventive Medicine, University of California, La Jolla/San Diego, California/Etats-Unis (3 aut.); Department of Neurology, Mayo Clinic/Rochester, Minnesota/Etats-Unis (5 aut., 6 aut.); Department of Neurology, School of Medicine, University of Maryland/Baltimore, Maryland/Etats-Unis (7 aut.); Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital/Philadelphia, Pennsylvania/Etats-Unis (8 aut., 9 aut.); Department of Neurology, Baylor College of Medicine/Houston, Texas/Etats-Unis (10 aut., 11 aut.); Parkinson's Institute/Sunnyvale, California/Etats-Unis (12 aut., 13 aut.); Department of Neurology, Boston University/Boston, Massachusetts/Etats-Unis (14 aut.); Department of Neurology, University of Michigan/Ann Arbor, Michigan/Etats-Unis (15 aut.); Department of Neurology, University of Rochester/Rochester, New York/Etats-Unis (16 aut.); Department of Neurology, University of Virginia Health System/Charlottesville, Virginia/Etats-Unis (17 aut.); Department of Neurology, Case Western Reserve University/Cleveland, Ohio/Etats-Unis (18 aut.); Veterans Affairs San Diego Healthcare System/San Diego, California/Etats-Unis (19 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 4; Pp. 546-549; Bibl. 26 ref. |
LA : | Anglais |
EA : | 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. |
CC : | 002B17; 002B17F; 002B17G |
FD : | Système nerveux pathologie; Atrophie multisystématisée; Parkinsonisme; Mutation; Leucine; Kinase |
FG : | Transferases; Enzyme |
ED : | Nervous system diseases; Multiple system atrophy; Parkinsonism; Mutation; Leucine; Kinase |
EG : | Transferases; Enzyme |
SD : | Sistema nervioso patología; Atrofia multisistematizada; Parkinson síndrome; Mutación; Leucina; Kinase |
LO : | INIST-20953.354000145702210150 |
ID : | 07-0210956 |
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Pascal:07-0210956Le document en format XML
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<author><name sortKey="Wooten, G Frederick" sort="Wooten, G Frederick" uniqKey="Wooten G" first="G. Frederick" last="Wooten">G. Frederick Wooten</name>
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<author><name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name>
<affiliation><inist:fA14 i1="03"><s1>Department of Neurosciences, University of California, La Jolla</s1>
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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><inist:fA14 i1="01"><s1>Department of Molecular Genetics, Albert Einstein College of Medicine</s1>
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<author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Medical and Molecular Genetics, Indiana University</s1>
<s2>Indianapolis, Indiana</s2>
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<author><name sortKey="May, Susanne" sort="May, Susanne" uniqKey="May S" first="Susanne" last="May">Susanne May</name>
<affiliation><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>
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<affiliation><inist:fA14 i1="04"><s1>Department of Family and Preventive Medicine, University of California, La Jolla</s1>
<s2>San Diego, California</s2>
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<sZ>3 aut.</sZ>
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<author><name sortKey="Senthil, Geetha" sort="Senthil, Geetha" uniqKey="Senthil G" first="Geetha" last="Senthil">Geetha Senthil</name>
<affiliation><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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<author><name sortKey="Sandroni, Paola" sort="Sandroni, Paola" uniqKey="Sandroni P" first="Paola" last="Sandroni">Paola Sandroni</name>
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<s2>Rochester, Minnesota</s2>
<s3>USA</s3>
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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>
<affiliation><inist:fA14 i1="05"><s1>Department of Neurology, Mayo Clinic</s1>
<s2>Rochester, Minnesota</s2>
<s3>USA</s3>
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<author><name sortKey="Reich, Stephen" sort="Reich, Stephen" uniqKey="Reich S" first="Stephen" last="Reich">Stephen Reich</name>
<affiliation><inist:fA14 i1="06"><s1>Department of Neurology, School of Medicine, University of Maryland</s1>
<s2>Baltimore, Maryland</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
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<author><name sortKey="Colcher, Amy" sort="Colcher, Amy" uniqKey="Colcher A" first="Amy" last="Colcher">Amy Colcher</name>
<affiliation><inist:fA14 i1="07"><s1>Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital</s1>
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<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
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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>
<affiliation><inist:fA14 i1="07"><s1>Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital</s1>
<s2>Philadelphia, Pennsylvania</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
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</author>
<author><name sortKey="Ondo, William G" sort="Ondo, William G" uniqKey="Ondo W" first="William G." last="Ondo">William G. Ondo</name>
<affiliation><inist:fA14 i1="08"><s1>Department of Neurology, Baylor College of Medicine</s1>
<s2>Houston, Texas</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
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<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation><inist:fA14 i1="08"><s1>Department of Neurology, Baylor College of Medicine</s1>
<s2>Houston, Texas</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
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</author>
<author><name sortKey="Neng Huang" sort="Neng Huang" uniqKey="Neng Huang" last="Neng Huang">NENG HUANG</name>
<affiliation><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>
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<author><name sortKey="Tanner, Caroline M" sort="Tanner, Caroline M" uniqKey="Tanner C" first="Caroline M." last="Tanner">Caroline M. Tanner</name>
<affiliation><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>
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</author>
<author><name sortKey="Novak, Peter" sort="Novak, Peter" uniqKey="Novak P" first="Peter" last="Novak">Peter Novak</name>
<affiliation><inist:fA14 i1="10"><s1>Department of Neurology, Boston University</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Gilman, Sid" sort="Gilman, Sid" uniqKey="Gilman S" first="Sid" last="Gilman">Sid Gilman</name>
<affiliation><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>
</affiliation>
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<author><name sortKey="Marshall, Frederick J" sort="Marshall, Frederick J" uniqKey="Marshall F" first="Frederick J." last="Marshall">Frederick J. Marshall</name>
<affiliation><inist:fA14 i1="12"><s1>Department of Neurology, University of Rochester</s1>
<s2>Rochester, New York</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
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</author>
<author><name sortKey="Wooten, G Frederick" sort="Wooten, G Frederick" uniqKey="Wooten G" first="G. Frederick" last="Wooten">G. Frederick Wooten</name>
<affiliation><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>
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<author><name sortKey="Chelimsky, Thomas C" sort="Chelimsky, Thomas C" uniqKey="Chelimsky T" first="Thomas C." last="Chelimsky">Thomas C. Chelimsky</name>
<affiliation><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>
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<author><name sortKey="Shults, Clifford W" sort="Shults, Clifford W" uniqKey="Shults C" first="Clifford W." last="Shults">Clifford W. Shults</name>
<affiliation><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>
</affiliation>
<affiliation><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>
</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>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<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>
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</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>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
</fA01>
<fA03 i2="1"><s0>Mov. disord.</s0>
</fA03>
<fA05><s2>22</s2>
</fA05>
<fA06><s2>4</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>OZELIUS (Laurie J.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>FOROUD (Tatiana)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>MAY (Susanne)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>SENTHIL (Geetha)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>SANDRONI (Paola)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>LOW (Phillip A.)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>REICH (Stephen)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>COLCHER (Amy)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>STERN (Matthew B.)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>ONDO (William G.)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>JANKOVIC (Joseph)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>NENG HUANG</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>TANNER (Caroline M.)</s1>
</fA11>
<fA11 i1="14" i2="1"><s1>NOVAK (Peter)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>GILMAN (Sid)</s1>
</fA11>
<fA11 i1="16" i2="1"><s1>MARSHALL (Frederick J.)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>WOOTEN (G. Frederick)</s1>
</fA11>
<fA11 i1="18" i2="1"><s1>CHELIMSKY (Thomas C.)</s1>
</fA11>
<fA11 i1="19" i2="1"><s1>SHULTS (Clifford W.)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Molecular Genetics, Albert Einstein College of Medicine</s1>
<s2>Bronx, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Medical and Molecular Genetics, Indiana University</s1>
<s2>Indianapolis, Indiana</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
</fA14>
<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>
</fA14>
<fA14 i1="04"><s1>Department of Family and Preventive Medicine, University of California, La Jolla</s1>
<s2>San Diego, California</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Neurology, Mayo Clinic</s1>
<s2>Rochester, Minnesota</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Neurology, School of Medicine, University of Maryland</s1>
<s2>Baltimore, Maryland</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital</s1>
<s2>Philadelphia, Pennsylvania</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Department of Neurology, Baylor College of Medicine</s1>
<s2>Houston, Texas</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Parkinson's Institute</s1>
<s2>Sunnyvale, California</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</fA14>
<fA14 i1="10"><s1>Department of Neurology, Boston University</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>14 aut.</sZ>
</fA14>
<fA14 i1="11"><s1>Department of Neurology, University of Michigan</s1>
<s2>Ann Arbor, Michigan</s2>
<s3>USA</s3>
<sZ>15 aut.</sZ>
</fA14>
<fA14 i1="12"><s1>Department of Neurology, University of Rochester</s1>
<s2>Rochester, New York</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
</fA14>
<fA14 i1="13"><s1>Department of Neurology, University of Virginia Health System</s1>
<s2>Charlottesville, Virginia</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
</fA14>
<fA14 i1="14"><s1>Department of Neurology, Case Western Reserve University</s1>
<s2>Cleveland, Ohio</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
</fA14>
<fA14 i1="15"><s1>Veterans Affairs San Diego Healthcare System</s1>
<s2>San Diego, California</s2>
<s3>USA</s3>
<sZ>19 aut.</sZ>
</fA14>
<fA17 i1="01" i2="1"><s1>The North American Multiple System Atrophy Study Group</s1>
<s3>USA</s3>
</fA17>
<fA20><s1>546-549</s1>
</fA20>
<fA21><s1>2007</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000145702210150</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2007 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>26 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>07-0210956</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17F</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Atrophie multisystématisée</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Multiple system atrophy</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Atrofia multisistematizada</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Mutation</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Mutation</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Mutación</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Leucine</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Leucine</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Leucina</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Kinase</s0>
<s2>FE</s2>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Kinase</s0>
<s2>FE</s2>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Kinase</s0>
<s2>FE</s2>
<s5>11</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enzima</s0>
<s2>FE</s2>
</fC07>
<fN21><s1>141</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
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<server><NO>PASCAL 07-0210956 INIST</NO>
<ET>G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy</ET>
<AU>OZELIUS (Laurie J.); FOROUD (Tatiana); MAY (Susanne); SENTHIL (Geetha); SANDRONI (Paola); LOW (Phillip A.); REICH (Stephen); COLCHER (Amy); STERN (Matthew B.); ONDO (William G.); JANKOVIC (Joseph); NENG HUANG; TANNER (Caroline M.); NOVAK (Peter); GILMAN (Sid); MARSHALL (Frederick J.); WOOTEN (G. Frederick); CHELIMSKY (Thomas C.); SHULTS (Clifford W.)</AU>
<AF>Department of Molecular Genetics, Albert Einstein College of Medicine/Bronx, New York/Etats-Unis (1 aut., 4 aut.); Department of Medical and Molecular Genetics, Indiana University/Indianapolis, Indiana/Etats-Unis (2 aut.); Department of Neurosciences, University of California, La Jolla/San Diego, California/Etats-Unis (3 aut., 19 aut.); Department of Family and Preventive Medicine, University of California, La Jolla/San Diego, California/Etats-Unis (3 aut.); Department of Neurology, Mayo Clinic/Rochester, Minnesota/Etats-Unis (5 aut., 6 aut.); Department of Neurology, School of Medicine, University of Maryland/Baltimore, Maryland/Etats-Unis (7 aut.); Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital/Philadelphia, Pennsylvania/Etats-Unis (8 aut., 9 aut.); Department of Neurology, Baylor College of Medicine/Houston, Texas/Etats-Unis (10 aut., 11 aut.); Parkinson's Institute/Sunnyvale, California/Etats-Unis (12 aut., 13 aut.); Department of Neurology, Boston University/Boston, Massachusetts/Etats-Unis (14 aut.); Department of Neurology, University of Michigan/Ann Arbor, Michigan/Etats-Unis (15 aut.); Department of Neurology, University of Rochester/Rochester, New York/Etats-Unis (16 aut.); Department of Neurology, University of Virginia Health System/Charlottesville, Virginia/Etats-Unis (17 aut.); Department of Neurology, Case Western Reserve University/Cleveland, Ohio/Etats-Unis (18 aut.); Veterans Affairs San Diego Healthcare System/San Diego, California/Etats-Unis (19 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 4; Pp. 546-549; Bibl. 26 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17F; 002B17G</CC>
<FD>Système nerveux pathologie; Atrophie multisystématisée; Parkinsonisme; Mutation; Leucine; Kinase</FD>
<FG>Transferases; Enzyme</FG>
<ED>Nervous system diseases; Multiple system atrophy; Parkinsonism; Mutation; Leucine; Kinase</ED>
<EG>Transferases; Enzyme</EG>
<SD>Sistema nervioso patología; Atrofia multisistematizada; Parkinson síndrome; Mutación; Leucina; Kinase</SD>
<LO>INIST-20953.354000145702210150</LO>
<ID>07-0210956</ID>
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