MovDisordV3, PascalFrancis, Corpus, bibRecord, 001746

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 : 001747

G2019S 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. Shults

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A03		`1`		`@0 Mov. disord.`
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A08	`01`	`1`	`ENG`	`@1 G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy`
A11	`01`	`1`		`@1 OZELIUS (Laurie J.)`
A11	`02`	`1`		`@1 FOROUD (Tatiana)`
A11	`03`	`1`		`@1 MAY (Susanne)`
A11	`04`	`1`		`@1 SENTHIL (Geetha)`
A11	`05`	`1`		`@1 SANDRONI (Paola)`
A11	`06`	`1`		`@1 LOW (Phillip A.)`
A11	`07`	`1`		`@1 REICH (Stephen)`
A11	`08`	`1`		`@1 COLCHER (Amy)`
A11	`09`	`1`		`@1 STERN (Matthew B.)`
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A11	`12`	`1`		`@1 NENG HUANG`
A11	`13`	`1`		`@1 TANNER (Caroline M.)`
A11	`14`	`1`		`@1 NOVAK (Peter)`
A11	`15`	`1`		`@1 GILMAN (Sid)`
A11	`16`	`1`		`@1 MARSHALL (Frederick J.)`
A11	`17`	`1`		`@1 WOOTEN (G. Frederick)`
A11	`18`	`1`		`@1 CHELIMSKY (Thomas C.)`
A11	`19`	`1`		`@1 SHULTS (Clifford W.)`
A14	`01`			`@1 Department of Molecular Genetics, Albert Einstein College of Medicine @2 Bronx, New York @3 USA @Z 1 aut. @Z 4 aut.`
A14	`02`			`@1 Department of Medical and Molecular Genetics, Indiana University @2 Indianapolis, Indiana @3 USA @Z 2 aut.`
A14	`03`			`@1 Department of Neurosciences, University of California, La Jolla @2 San Diego, California @3 USA @Z 3 aut. @Z 19 aut.`
A14	`04`			`@1 Department of Family and Preventive Medicine, University of California, La Jolla @2 San Diego, California @3 USA @Z 3 aut.`
A14	`05`			`@1 Department of Neurology, Mayo Clinic @2 Rochester, Minnesota @3 USA @Z 5 aut. @Z 6 aut.`
A14	`06`			`@1 Department of Neurology, School of Medicine, University of Maryland @2 Baltimore, Maryland @3 USA @Z 7 aut.`
A14	`07`			`@1 Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital @2 Philadelphia, Pennsylvania @3 USA @Z 8 aut. @Z 9 aut.`
A14	`08`			`@1 Department of Neurology, Baylor College of Medicine @2 Houston, Texas @3 USA @Z 10 aut. @Z 11 aut.`
A14	`09`			`@1 Parkinson's Institute @2 Sunnyvale, California @3 USA @Z 12 aut. @Z 13 aut.`
A14	`10`			`@1 Department of Neurology, Boston University @2 Boston, Massachusetts @3 USA @Z 14 aut.`
A14	`11`			`@1 Department of Neurology, University of Michigan @2 Ann Arbor, Michigan @3 USA @Z 15 aut.`
A14	`12`			`@1 Department of Neurology, University of Rochester @2 Rochester, New York @3 USA @Z 16 aut.`
A14	`13`			`@1 Department of Neurology, University of Virginia Health System @2 Charlottesville, Virginia @3 USA @Z 17 aut.`
A14	`14`			`@1 Department of Neurology, Case Western Reserve University @2 Cleveland, Ohio @3 USA @Z 18 aut.`
A14	`15`			`@1 Veterans Affairs San Diego Healthcare System @2 San Diego, California @3 USA @Z 19 aut.`
A17	`01`	`1`		`@1 The North American Multiple System Atrophy Study Group @3 USA`
A20				`@1 546-549`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000145702210150`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 26 ref.`
A47	`01`	`1`		`@0 07-0210956`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17F`
C02	`03`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Atrophie multisystématisée @2 NM @5 02`
C03	`02`	`X`	`ENG`	`@0 Multiple system atrophy @2 NM @5 02`
C03	`02`	`X`	`SPA`	`@0 Atrofia multisistematizada @2 NM @5 02`
C03	`03`	`X`	`FRE`	`@0 Parkinsonisme @2 NM @5 03`
C03	`03`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 03`
C03	`03`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 03`
C03	`04`	`X`	`FRE`	`@0 Mutation @5 09`
C03	`04`	`X`	`ENG`	`@0 Mutation @5 09`
C03	`04`	`X`	`SPA`	`@0 Mutación @5 09`
C03	`05`	`X`	`FRE`	`@0 Leucine @2 NK @2 FR @5 10`
C03	`05`	`X`	`ENG`	`@0 Leucine @2 NK @2 FR @5 10`
C03	`05`	`X`	`SPA`	`@0 Leucina @2 NK @2 FR @5 10`
C03	`06`	`X`	`FRE`	`@0 Kinase @2 FE @5 11`
C03	`06`	`X`	`ENG`	`@0 Kinase @2 FE @5 11`
C03	`06`	`X`	`SPA`	`@0 Kinase @2 FE @5 11`
C07	`01`	`X`	`FRE`	`@0 Transferases @2 FE`
C07	`01`	`X`	`ENG`	`@0 Transferases @2 FE`
C07	`01`	`X`	`SPA`	`@0 Transferases @2 FE`
C07	`02`	`X`	`FRE`	`@0 Enzyme @2 FE`
C07	`02`	`X`	`ENG`	`@0 Enzyme @2 FE`
C07	`02`	`X`	`SPA`	`@0 Enzima @2 FE`
N21				`@1 141`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 07-0210956 INIST
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

Links to Exploration step

Pascal:07-0210956

Le document en format XML

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<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
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<author><name sortKey="May, Susanne" sort="May, Susanne" uniqKey="May S" first="Susanne" last="May">Susanne May</name>
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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="Colcher, Amy" sort="Colcher, Amy" uniqKey="Colcher A" first="Amy" last="Colcher">Amy Colcher</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>
<affiliation><inist:fA14 i1="07"><s1>Parkinson's Disease and Movement Disorders Center, Pennsylvania Hospital</s1>
<s2>Philadelphia, Pennsylvania</s2>
<s3>USA</s3>
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</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><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>
</inist:fA14>
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</author>
<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>
</inist:fA14>
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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>
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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>
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</inist:fA14>
</affiliation>
</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>
</author>
<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>
</inist:fA14>
</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><inist:fA14 i1="13"><s1>Department of Neurology, University of Virginia Health System</s1>
<s2>Charlottesville, Virginia</s2>
<s3>USA</s3>
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</inist:fA14>
</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><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>
</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><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>
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<idno type="inist">07-0210956</idno>
<date when="2007">2007</date>
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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>
<s2>Bronx, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<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>
<s3>USA</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<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>
<sZ>19 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
</author>
<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>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Sandroni, Paola" sort="Sandroni, Paola" uniqKey="Sandroni P" first="Paola" last="Sandroni">Paola Sandroni</name>
<affiliation><inist: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>
</inist:fA14>
</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><inist: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>
</inist:fA14>
</affiliation>
</author>
<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>
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</affiliation>
</author>
<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>
<s2>Philadelphia, Pennsylvania</s2>
<s3>USA</s3>
<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>
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<s2>Philadelphia, Pennsylvania</s2>
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<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
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</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><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>
</inist:fA14>
</affiliation>
</author>
<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>
</inist:fA14>
</affiliation>
</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>
</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><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>
</affiliation>
</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>
</author>
<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>
</inist:fA14>
</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><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>
</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><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>
</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><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>
</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>
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<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>
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<fA11 i1="02" i2="1"><s1>FOROUD (Tatiana)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>MAY (Susanne)</s1>
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<fA11 i1="04" i2="1"><s1>SENTHIL (Geetha)</s1>
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<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>
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<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>
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<fA11 i1="14" i2="1"><s1>NOVAK (Peter)</s1>
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<fA11 i1="15" i2="1"><s1>GILMAN (Sid)</s1>
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</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>
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<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>
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<s1>© 2007 INIST-CNRS. All rights reserved.</s1>
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</fA45>
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<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>
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<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>
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<fC03 i1="03" i2="X" l="ENG"><s0>Parkinsonism</s0>
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<s5>03</s5>
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<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>
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<fC03 i1="06" i2="X" l="ENG"><s0>Kinase</s0>
<s2>FE</s2>
<s5>11</s5>
</fC03>
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<s5>11</s5>
</fC03>
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</fC07>
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<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
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<s2>FE</s2>
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<s2>FE</s2>
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</fC07>
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</fN21>
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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>
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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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