GCH1 in early‐onset Parkinson's disease
Identifieur interne : 001356 ( Istex/Curation ); précédent : 001355; suivant : 001357GCH1 in early‐onset Parkinson's disease
Auteurs : Stephanie A. Cobb [États-Unis] ; Christian Wider [États-Unis] ; Owen A. Ross [États-Unis] ; Ignacio F. Mata [États-Unis] ; Charles H. Adler [États-Unis] ; Alex Rajput [Canada] ; Ali H. Rajput [Canada] ; Ruey-Meei Wu [Taïwan] ; Robert Hauser [États-Unis] ; Keith A. Josephs [États-Unis] ; Jonathan Carr [Afrique du Sud] ; Katrina Gwinn [États-Unis] ; Michael G. Heckman [États-Unis] ; Jan O. Aasly [Norvège] ; Timothy Lynch [Irlande (pays)] ; Ryan J. Uitti [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Gregory Kapatos [États-Unis] ; Matthew J. Farrer [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-10-30.
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Abstract
Mutations in GTP‐cyclohydrolase 1 (GCH1) cause autosomal dominant dopa‐responsive dystonia (DRD), characterized by childhood‐onset foot dystonia that later generalizes. DRD patients frequently present with associated Parkinsonism. Conversely, early‐onset Parkinson's disease (EOPD) patients commonly display dystonia. Herein, we investigated the frequency of GCH1 mutations in a series of 53 familial EOPD patients (21 with dystonia) and screened them for mutations in PRKN, PINK1, and DJ‐1. In addition, we examined a matched EOPD patient–control series for association of common variability at the GCH1 locus and EOPD susceptibility. No GCH1 coding change or copy‐number abnormality was identified in familial EOPD patients. A novel 18‐bp deletion was found in the proximal promoter (two patients, one control), which is expected to knock out two regulatory elements previously shown to regulate GCH1 transcription. No association was found between GCH1 variability and risk of EOPD. Fourteen (26.4%) familial EOPD patients had homozygous or compound heterozygous PRKN mutations. PRKN‐positive patients were 10 years younger than PRKN‐negative patients and had a twofold higher prevalence of dystonia. This study does not support a significant role for genetic variation at the GCH1 locus in EOPD. However, our results further highlight the relevance of PRKN screening in familial EOPD. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22729
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Cobb</name><affiliation wicri:level="1"><mods:affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea></affiliation></author><author><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name><affiliation wicri:level="1"><mods:affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. 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Cobb</name><affiliation wicri:level="1"><mods:affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea></affiliation></author><author><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name><affiliation wicri:level="1"><mods:affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. 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Adler</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Mayo Clinic, Scottsdale, Arizona, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Scottsdale, Arizona</wicri:regionArea></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation wicri:level="1"><mods:affiliation>Division of Neurology, Royal University Hospital, University of Saskatchewan, Saskatoon, Saskatchewan, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, Royal University Hospital, University of Saskatchewan, Saskatoon, Saskatchewan</wicri:regionArea></affiliation></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H." last="Rajput">Ali H. Rajput</name><affiliation wicri:level="1"><mods:affiliation>Division of Neurology, Royal University Hospital, University of Saskatchewan, Saskatoon, Saskatchewan, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, Royal University Hospital, University of Saskatchewan, Saskatoon, Saskatchewan</wicri:regionArea></affiliation></author><author><name sortKey="Wu, Ruey Eei" sort="Wu, Ruey Eei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan</mods:affiliation><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei</wicri:regionArea></affiliation></author><author><name sortKey="Hauser, Robert" sort="Hauser, Robert" uniqKey="Hauser R" first="Robert" last="Hauser">Robert Hauser</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of South Florida, Tampa, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of South Florida, Tampa, Florida</wicri:regionArea></affiliation></author><author><name sortKey="Josephs, Keith A" sort="Josephs, Keith A" uniqKey="Josephs K" first="Keith A." last="Josephs">Keith A. Josephs</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea></affiliation></author><author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name><affiliation wicri:level="1"><mods:affiliation>Neurophysiology Laboratory, University of Stellenbosch, Tygerberg Hospital, Tygerberg, South Africa</mods:affiliation><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>Neurophysiology Laboratory, University of Stellenbosch, Tygerberg Hospital, Tygerberg</wicri:regionArea></affiliation></author><author><name sortKey="Gwinn, Katrina" sort="Gwinn, Katrina" uniqKey="Gwinn K" first="Katrina" last="Gwinn">Katrina Gwinn</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas</wicri:regionArea></affiliation></author><author><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name><affiliation wicri:level="1"><mods:affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name><affiliation wicri:level="1"><mods:affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</mods:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim</wicri:regionArea></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation wicri:level="1"><mods:affiliation>Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland</mods:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin</wicri:regionArea></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, Florida</wicri:regionArea></affiliation></author><author><name sortKey="Kapatos, Gregory" sort="Kapatos, Gregory" uniqKey="Kapatos G" first="Gregory" last="Kapatos">Gregory Kapatos</name><affiliation wicri:level="1"><mods:affiliation>Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan</wicri:regionArea></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation wicri:level="1"><mods:affiliation>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea></affiliation><affiliation wicri:level="2"><mods:affiliation>Morris K. Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, Department of Neuroscience, 4500 San Pablo Road South, Jacksonville, Florida 32224</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Morris K. Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, Department of Neuroscience, 4500 San Pablo Road South, Jacksonville</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-10-30">2009-10-30</date><biblScope unit="volume">24</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2070">2070</biblScope><biblScope unit="page" to="2075">2075</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">E7C772768873F2B1C9F41CA093BBEBCB51710992</idno><idno type="DOI">10.1002/mds.22729</idno><idno type="ArticleID">MDS22729</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DRD</term><term>GCH1</term><term>PRKN</term><term>Parkinson's disease</term><term>dopa‐responsive dystonia</term><term>early‐onset Parkinson's disease</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in GTP‐cyclohydrolase 1 (GCH1) cause autosomal dominant dopa‐responsive dystonia (DRD), characterized by childhood‐onset foot dystonia that later generalizes. DRD patients frequently present with associated Parkinsonism. Conversely, early‐onset Parkinson's disease (EOPD) patients commonly display dystonia. Herein, we investigated the frequency of GCH1 mutations in a series of 53 familial EOPD patients (21 with dystonia) and screened them for mutations in PRKN, PINK1, and DJ‐1. In addition, we examined a matched EOPD patient–control series for association of common variability at the GCH1 locus and EOPD susceptibility. No GCH1 coding change or copy‐number abnormality was identified in familial EOPD patients. A novel 18‐bp deletion was found in the proximal promoter (two patients, one control), which is expected to knock out two regulatory elements previously shown to regulate GCH1 transcription. No association was found between GCH1 variability and risk of EOPD. Fourteen (26.4%) familial EOPD patients had homozygous or compound heterozygous PRKN mutations. PRKN‐positive patients were 10 years younger than PRKN‐negative patients and had a twofold higher prevalence of dystonia. This study does not support a significant role for genetic variation at the GCH1 locus in EOPD. However, our results further highlight the relevance of PRKN screening in familial EOPD. © 2009 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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