MovDisordV3, Main, Exploration, bibRecord, 001C11

LRRK2 variation and Parkinson's disease in African Americans

Identifieur interne : 001C11 ( Main/Exploration ); précédent : 001C10; suivant : 001C12

LRRK2 variation and Parkinson's disease in African Americans

Auteurs : Owen A. Ross [États-Unis] ; Greggory J. Wilhoite [États-Unis] ; Justin A. Bacon [États-Unis] ; Alexandra Soto-Ortolaza [États-Unis] ; Jennifer Kachergus [États-Unis] ; Stephanie A. Cobb [États-Unis] ; Andreas Puschmann [États-Unis] ; Carles Vilari O-Güell [États-Unis] ; Matthew J. Farrer [États-Unis] ; Neill Graff-Radford [États-Unis] ; James F. Meschia [États-Unis] ; Zbigniew K. Wszolek [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2010-09-15.

RBID : ISTEX:050B825DED95CB71E59A3A1EA7D075A512EC35B9

Descripteurs français

Pascal (Inist)
- Afro Américain, Kinase, Leucine, Maladie de Parkinson, Parkinsonisme, Pathologie du système nerveux.

English descriptors

KwdEn :
- Adult, African American, African Americans (genetics), Aged, Alleles, Exons, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Kinase, Leucine, Male, Middle Aged, Mutation, Nervous system diseases, Parkinson Disease (ethnology), Parkinson Disease (genetics), Parkinson disease, Parkinsonism, Protein-Serine-Threonine Kinases (genetics), genetics, leucine‐rich repeat kinase 2, parkinsonism.
MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- ethnology : Parkinson Disease.
- genetics : African Americans, Parkinson Disease.
- Adult, Aged, Alleles, Exons, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Mutation.

Abstract

The global impact of LRRK2 mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein, we investigated the frequency of common LRRK2 variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic variants and 13 known coding variations; however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic‐specific LRRK2 variation previously identified in PD further studies in under‐represented populations are warranted. © 2010 Movement Disorder Society.

Url:

DOI: 10.1002/mds.23163

Affiliations:

Le document en format XML

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<author><name sortKey="Wilhoite, Greggory J" sort="Wilhoite, Greggory J" uniqKey="Wilhoite G" first="Greggory J." last="Wilhoite">Greggory J. Wilhoite</name>
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<author><name sortKey="Soto Rtolaza, Alexandra" sort="Soto Rtolaza, Alexandra" uniqKey="Soto Rtolaza A" first="Alexandra" last="Soto-Ortolaza">Alexandra Soto-Ortolaza</name>
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<author><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name>
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<author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
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<author><name sortKey="Vilari O Ell, Carles" sort="Vilari O Ell, Carles" uniqKey="Vilari O Ell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
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<term>Aged</term>
<term>Alleles</term>
<term>Exons</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
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<term>genetics</term>
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<term>Aged</term>
<term>Alleles</term>
<term>Exons</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
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<front><div type="abstract" xml:lang="en">The global impact of LRRK2 mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein, we investigated the frequency of common LRRK2 variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic variants and 13 known coding variations; however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic‐specific LRRK2 variation previously identified in PD further studies in under‐represented populations are warranted. © 2010 Movement Disorder Society.</div>
</front>
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<affiliations><list><country><li>États-Unis</li>
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<tree><country name="États-Unis"><region name="Floride"><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
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<name sortKey="Bacon, Justin A" sort="Bacon, Justin A" uniqKey="Bacon J" first="Justin A." last="Bacon">Justin A. Bacon</name>
<name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name>
<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<name sortKey="Graff Adford, Neill" sort="Graff Adford, Neill" uniqKey="Graff Adford N" first="Neill" last="Graff-Radford">Neill Graff-Radford</name>
<name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
<name sortKey="Meschia, James F" sort="Meschia, James F" uniqKey="Meschia J" first="James F." last="Meschia">James F. Meschia</name>
<name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
<name sortKey="Soto Rtolaza, Alexandra" sort="Soto Rtolaza, Alexandra" uniqKey="Soto Rtolaza A" first="Alexandra" last="Soto-Ortolaza">Alexandra Soto-Ortolaza</name>
<name sortKey="Vilari O Ell, Carles" sort="Vilari O Ell, Carles" uniqKey="Vilari O Ell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
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<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
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Movement Disorders (revue)

LRRK2 variation and Parkinson's disease in African Americans

LRRK2 variation and Parkinson's disease in African Americans

Source :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.