MovDisordV3, Main, Exploration, bibRecord, 002C88

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

Identifieur interne : 002C88 ( Main/Exploration ); précédent : 002C87; suivant : 002C89

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

Auteurs : Mathias Toft [États-Unis, Norvège] ; Ignacio F. Mata [États-Unis, Espagne] ; Owen A. Ross [États-Unis] ; Jennifer Kachergus [États-Unis] ; Mary M. Hulihan [États-Unis] ; Kristoffer Haugarvoll [États-Unis, Norvège] ; Jeremy T. Stone [États-Unis] ; Marta Blazquez [Espagne] ; J. Mark Gibson [Irlande (pays)] ; Jan O. Aasly [Norvège] ; Linda R. White [Norvège] ; Timothy Lynch [Irlande (pays)] ; Charles H. Adler [États-Unis] ; Katrina Gwinn-Hardy [États-Unis] ; Matthew J. Farrer [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2007-02-15.

RBID : ISTEX:174C39C1C7D12C640AC8E92C152A83DEE1421B13

Descripteurs français

Pascal (Inist)
- Parkinson maladie, Pouvoir pathogène, Substitution, Système nerveux pathologie.

English descriptors

KwdEn :
- Aged, Aged, 80 and over, Arginine (genetics), Case-Control Studies, Female, Genetic Predisposition to Disease, Glutamine (genetics), Humans, Lrrk2, Male, Mutation, Nervous system diseases, Parkinson Disease (genetics), Parkinson disease, Pathogenicity, Protein-Serine-Threonine Kinases (genetics), R1514Q, Substitution, genetic testing, pathogenicity.
MESH :
- chemical , genetics : Arginine, Glutamine, Protein-Serine-Threonine Kinases.
- genetics : Parkinson Disease.
- Aged, Aged, 80 and over, Case-Control Studies, Female, Genetic Predisposition to Disease, Humans, Male, Mutation.

Abstract

An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case–control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6–2.8; P = 0.45). These findings highlight the importance of using family‐based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease. © 2007 Movement Disorder Society

Url:

https://api.istex.fr/document/174C39C1C7D12C640AC8E92C152A83DEE1421B13/fulltext/pdf

DOI: 10.1002/mds.21217

Affiliations:

Espagne, Irlande (pays), Norvège, États-Unis
Floride, Maryland, Trøndelag
Trondheim

Le document en format XML

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<author><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name>
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<author><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
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<term>Case-Control Studies</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Glutamine (genetics)</term>
<term>Humans</term>
<term>Lrrk2</term>
<term>Male</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Pathogenicity</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>R1514Q</term>
<term>Substitution</term>
<term>genetic testing</term>
<term>pathogenicity</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
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<front><div type="abstract" xml:lang="en">An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case–control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6–2.8; P = 0.45). These findings highlight the importance of using family‐based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease. © 2007 Movement Disorder Society</div>
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Movement Disorders (revue)

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

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Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

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Pour manipuler ce document sous Unix (Dilib)

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	Movement Disorders (revue)
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