MovDisordV3, Pmc, Checkpoint, bibRecord, 000375

LRRK2 variation and Parkinson's disease in African Americans

Identifieur interne : 000375 ( Pmc/Checkpoint ); précédent : 000374; suivant : 000376

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 : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2010.

RBID : PMC:2939165

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 thirteen 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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2939165

DOI: 10.1002/mds.23163
PubMed: 20669299
PubMed Central: 2939165

Affiliations:

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Le document en format XML

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 variation and Parkinson's disease in African Americans</title>
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 variation and Parkinson's disease in African Americans</title>
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<author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<front><div type="abstract" xml:lang="en"><p id="P32">The global impact of <italic>LRRK2</italic>
 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 <italic>LRRK2</italic>
 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 thirteen known coding variations however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic-specific <italic>LRRK2</italic>
 variation previously identified in PD further studies in under-represented populations are warranted.</p>
</div>
</front>
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<journal-title>Movement disorders : official journal of the Movement Disorder Society</journal-title>
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<title-group><article-title><italic>LRRK2</italic>
 variation and Parkinson's disease in African Americans</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Ross</surname>
<given-names>Owen A.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="corresp" rid="CR1">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wilhoite</surname>
<given-names>Greggory J.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bacon</surname>
<given-names>Justin A.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Soto-Ortolaza</surname>
<given-names>Alexandra</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kachergus</surname>
<given-names>Jennifer</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cobb</surname>
<given-names>Stephanie A.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Puschmann</surname>
<given-names>Andreas</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vilariño-Güell</surname>
<given-names>Carles</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Farrer</surname>
<given-names>Matthew J.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Graff-Radford</surname>
<given-names>Neill</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Meschia</surname>
<given-names>James F.</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wszolek</surname>
<given-names>Zbigniew K.</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
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<aff id="A1"><label>1</label>
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</aff>
<aff id="A2"><label>2</label>
Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</aff>
<author-notes><fn id="FN1"><p id="P1"><bold>Author contributions</bold>
: Owen A. Ross: Funding, conception and organization of research project, drafting, review and critique of manuscript;</p>
<p id="P2">Greggory J. Wilhoite: Execution of research project, review and critique of manuscript;</p>
<p id="P3">Justin A. Bacon: Execution of research project, review and critique of manuscript;</p>
<p id="P4">Alexandra I. Soto-Ortolaza: Execution of research project, review and critique of manuscript;</p>
<p id="P5">Jennifer Kachergus: Execution of research project, review and critique of manuscript;</p>
<p id="P6">Stephanie A. Cobb: Execution of research project, review and critique of manuscript;</p>
<p id="P7">Andreas Puschmann: Execution of research project, review and critique of manuscript;</p>
<p id="P8">Carles Vilariño-Güell: Conception and organization of research project, review and critique of manuscript;</p>
<p id="P9">Matthew J. Farrer: Funding and conception of research project, review and critique of manuscript;</p>
<p id="P10">Neill Graff-Radford: Funding, sample collection, review and critique of manuscript;</p>
<p id="P11">James F. Meschia: Funding, sample collection, review and critique of manuscript;</p>
<p id="P12">Zbigniew K. Wszolek: Funding, conception and organization of research project, sample collection, review and critique of manuscript;</p>
</fn>
<fn id="FN8"><p id="P13">Financial Disclosures for the Past Year:</p>
<p id="P14"><bold>Owen A. Ross</bold>
 Stock Ownership in medically-related fields; Consultancies; Advisory Boards; Partnerships; Honoraria; Intellectual Property Rights; Expert Testimony; Contracts; Royalties: NONE</p>
<p id="P15">Employment: Mayo Clinic</p>
<p id="P16">Grants: Michael J. Fox Foundation and American Heart Association.</p>
</fn>
<fn id="FN12"><p id="P17">Greggory J. Wilhoite, Justin A. Bacon, Alexandra Soto-Ortolaza, Jennifer Kachergus, Stephanie A. Cobb, Andreas Puschmann, Carles Vilariño-Güell Stock Ownership in medically-related fields; Consultancies; Advisory Boards; Grants; hips; Honoraria; Intellectual Property Rights; Expert Testimony; Contracts; Royalties: NONE</p>
<p id="P18">Employment: Mayo Clinic</p>
</fn>
<fn id="FN14"><p id="P19"><bold>Matthew J. Farrer</bold>
 Dr. Farrer reports a US provisional patent application for a device that treats neurodegenerative diseases, which has been licensed to Alnylam Pharmaceuticals Inc. Dr Farrer also reports an honorarium for a seminar from H. Lundbeck A/S, GlaxoSmithKline, Elan Pharmaceuticals and Genzyme.</p>
<p id="P20">Advisory Boards: Michael J. Fox Foundation</p>
<p id="P21">Employment: Mayo Clinic</p>
<p id="P22">Grants: NIH and Michael J. Fox Foundation</p>
</fn>
<fn id="FN18"><p id="P23"><bold>James F. Meschia</bold>
 Stock Ownership in medically-related fields; Consultancies; Advisory Boards; Partnerships; Honoraria; Intellectual Property Rights; Expert Testimony; Contracts; Royalties: NONE</p>
<p id="P24">Employment: Mayo Clinic</p>
<p id="P25">Grants: NINDS and the Hanley Foundation (DC).</p>
</fn>
<fn id="FN21"><p id="P26"><bold>Neill Graff-Radford</bold>
 Stock Ownership in medically-related fields; Consultancies; Grants; Partnerships; Honoraria; Intellectual Property Rights; Expert Testimony; Contracts; Royalties: NONE</p>
<p id="P27">Employment: Mayo Clinic</p>
<p id="P28">Scientific Advisory Board: Codman</p>
</fn>
<fn id="FN24"><p id="P29"><bold>Zbigniew K. Wszolek</bold>
 Stock Ownership in medically-related fields; Consultancies; Advisory Boards; Partnerships; Honoraria; Intellectual Property Rights; Expert Testimony; Contracts; Royalties: NONE</p>
<p id="P30">Employment: Mayo Clinic</p>
<p id="P31">Grants: NIH and PARF</p>
</fn>
<corresp id="CR1"><label>*</label>
Corresponding author: Owen A. Ross PhD Molecular Genetics Laboratory and Core, Morris K. Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, Department of Neuroscience, 4500 San Pablo Road, Jacksonville, FL 32224, Tel: (904)-953-0963, Fax: (904)-953-7370, <email>ross.owen@mayo.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>19</day>
<month>7</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="ppub"><day>15</day>
<month>9</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>15</day>
<month>9</month>
<year>2011</year>
</pub-date>
<volume>25</volume>
<issue>12</issue>
<fpage>1973</fpage>
<lpage>1976</lpage>
<abstract><p id="P32">The global impact of <italic>LRRK2</italic>
 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 <italic>LRRK2</italic>
 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 thirteen known coding variations however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic-specific <italic>LRRK2</italic>
 variation previously identified in PD further studies in under-represented populations are warranted.</p>
</abstract>
<kwd-group><kwd>Parkinsonism</kwd>
<kwd>Leucine-rich repeat kinase 2</kwd>
<kwd>genetics</kwd>
</kwd-group>
<contract-num rid="NS1">P50 NS040256-109002
				||NS</contract-num>
<contract-sponsor id="NS1">National Institute of Neurological Disorders and Stroke  : NINDS</contract-sponsor>
</article-meta>
</front>
</pmc>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Floride</li>
</region>
</list>
<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>
</region>
<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 Radford, Neill" sort="Graff Radford, Neill" uniqKey="Graff Radford 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 Ortolaza, Alexandra" sort="Soto Ortolaza, Alexandra" uniqKey="Soto Ortolaza A" first="Alexandra" last="Soto-Ortolaza">Alexandra Soto-Ortolaza</name>
<name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
<name sortKey="Wilhoite, Greggory J" sort="Wilhoite, Greggory J" uniqKey="Wilhoite G" first="Greggory J." last="Wilhoite">Greggory J. Wilhoite</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</country>
</tree>
</affiliations>
</record>

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LRRK2 variation and Parkinson's disease in African Americans

LRRK2 variation and Parkinson's disease in African Americans

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