MovDisordV3, Main, Exploration, bibRecord, 002E35

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

Identifieur interne : 002E35 ( Main/Exploration ); précédent : 002E34; suivant : 002E36

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 ] ; 2007-03-15.

RBID : ISTEX:42663CCCC2F1E080310549C4F567A062D0519704

Descripteurs français

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

English descriptors

KwdEn :
- Cerebellum (pathology), Female, Gene Expression (genetics), Humans, Kinase, LRRK2, Leucine, Male, Middle Aged, Multiple System Atrophy (epidemiology), Multiple System Atrophy (pathology), Multiple system atrophy, Mutation, Nervous system diseases, Parkinsonian Disorders (epidemiology), Parkinsonian Disorders (genetics), Parkinsonism, Point Mutation (genetics), Protein-Serine-Threonine Kinases (genetics), Risk Factors, multiple system atrophy.
MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- epidemiology : Multiple System Atrophy, Parkinsonian Disorders.
- genetics : Gene Expression, Parkinsonian Disorders, Point Mutation.
- pathology : Cerebellum, Multiple System Atrophy.
- Female, Humans, Male, Middle Aged, Risk Factors.

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

Url:

https://api.istex.fr/document/42663CCCC2F1E080310549C4F567A062D0519704/fulltext/pdf

DOI: 10.1002/mds.21343

Affiliations:

États-Unis
Californie, Indiana, Maryland, Massachusetts, Michigan, Minnesota, Ohio, Pennsylvanie, Texas, Virginie, État de New York
Houston
Baylor College of Medicine

Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cerebellum (pathology)</term>
<term>Female</term>
<term>Gene Expression (genetics)</term>
<term>Humans</term>
<term>Kinase</term>
<term>LRRK2</term>
<term>Leucine</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Multiple System Atrophy (epidemiology)</term>
<term>Multiple System Atrophy (pathology)</term>
<term>Multiple system atrophy</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinsonian Disorders (epidemiology)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Parkinsonism</term>
<term>Point Mutation (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Risk Factors</term>
<term>multiple system atrophy</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Multiple System Atrophy</term>
<term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gene Expression</term>
<term>Parkinsonian Disorders</term>
<term>Point Mutation</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cerebellum</term>
<term>Multiple System Atrophy</term>
</keywords>
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<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Risk Factors</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Atrophie multisystématisée</term>
<term>Kinase</term>
<term>Leucine</term>
<term>Mutation</term>
<term>Parkinsonisme</term>
<term>Système nerveux pathologie</term>
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<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>
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<li>Indiana</li>
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<li>Michigan</li>
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<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>
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   |wiki=    Wicri/Santé
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   |texte=   G2019S mutation in the leucine‐rich repeat kinase 2 gene is not associated with multiple system atrophy
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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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	Movement Disorders (revue)
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