MovDisordV3, PascalFrancis, Curation, bibRecord, 002403

LRRK2 Variation and Parkinson's Disease in African Americans

Identifieur interne : 002403 ( PascalFrancis/Curation ); précédent : 002402; suivant : 002404

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 Vilarino-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.

RBID : Pascal:10-0446315

Descripteurs français

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

English descriptors

KwdEn :
- African American, Kinase, Leucine, Nervous system diseases, Parkinson disease, Parkinsonism.

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.

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A11	`02`	`1`		`@1 WILHOITE (Greggory J.)`
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A11	`11`	`1`		`@1 MESCHIA (James F.)`
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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
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C03	`01`	`X`	`FRE`	`@0 Maladie de Parkinson @2 NM @5 01`
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C03	`03`	`X`	`ENG`	`@0 Nervous system diseases @5 03`
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C03	`04`	`X`	`FRE`	`@0 Afro Américain @5 09`
C03	`04`	`X`	`ENG`	`@0 African American @5 09`
C03	`04`	`X`	`SPA`	`@0 Afroamericano @5 09`
C03	`05`	`X`	`FRE`	`@0 Leucine @2 NK @2 FR @5 10`
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C03	`05`	`X`	`SPA`	`@0 Leucina @2 NK @2 FR @5 10`
C03	`06`	`X`	`FRE`	`@0 Kinase @2 FE @5 11`
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C03	`06`	`X`	`SPA`	`@0 Kinase @2 FE @5 11`
C07	`01`	`X`	`FRE`	`@0 Transferases @2 FE`
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C07	`01`	`X`	`SPA`	`@0 Transferases @2 FE`
C07	`02`	`X`	`FRE`	`@0 Enzyme @2 FE`
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C07	`02`	`X`	`SPA`	`@0 Enzima @2 FE`
C07	`03`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
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C07	`03`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`04`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
C07	`04`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`04`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`05`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`05`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`05`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`06`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
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C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
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Pascal:10-0446315

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">LRRK2 Variation and Parkinson's Disease in African Americans</title>
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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>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neuroscience, Mayo Clinic College of Medicine</s1>
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<author><name sortKey="Puschmann, Andreas" sort="Puschmann, Andreas" uniqKey="Puschmann A" first="Andreas" last="Puschmann">Andreas Puschmann</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neuroscience, Mayo Clinic College of Medicine</s1>
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<author><name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Güell">Carles Vilarino-Güell</name>
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<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
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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.</div>
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	Movement Disorders (revue)
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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

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