GCH1 in Early-Onset Parkinson's Disease
Identifieur interne : 002271 ( Main/Merge ); précédent : 002270; suivant : 002272GCH1 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.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Mutations in GTP-cyclohydrolase 1 (GCHI) 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 GCHI 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 GCHI locus in EOPD. However, our results further highlight the relevance of PRKN screening in familial EOPD.
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Cobb</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>13 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>13 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></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="2"><inist:fA14 i1="04"><s1>Department of Neurology, Mayo Clinic</s1><s2>Scottsdale, Arizona</s2><s3>USA</s3><sZ>5 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Division of Neurology, Royal University Hospital, University of Saskatchewan</s1><s2>Saskatoon, Saskatchewan</s2><s3>CAN</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Saskatoon, Saskatchewan</wicri:noRegion></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"><inist:fA14 i1="05"><s1>Division of Neurology, Royal University Hospital, University of Saskatchewan</s1><s2>Saskatoon, Saskatchewan</s2><s3>CAN</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Saskatoon, Saskatchewan</wicri:noRegion></affiliation></author><author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University</s1><s2>Taipei</s2><s3>TWN</s3><sZ>8 aut.</sZ></inist:fA14><country>Taïwan</country><wicri:noRegion>Taipei</wicri:noRegion></affiliation></author><author><name sortKey="Hauser, Robert" sort="Hauser, Robert" uniqKey="Hauser R" first="Robert" last="Hauser">Robert Hauser</name><affiliation wicri:level="4"><inist:fA14 i1="07"><s1>Department of Neurology, University of South Florida</s1><s2>Tampa, Florida</s2><s3>USA</s3><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region><settlement type="city">Tampa</settlement></placeName><orgName type="university">Université de Floride du Sud</orgName></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="2"><inist:fA14 i1="08"><s1>Department of Neurology, Mayo Clinic</s1><s2>Rochester, Minnesota</s2><s3>USA</s3><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Neurophysiology Laboratory, University of Stellenbosch, Tygerberg Hospital</s1><s2>Tygerberg</s2><s3>ZAF</s3><sZ>11 aut.</sZ></inist:fA14><country>Afrique du Sud</country><wicri:noRegion>Tygerberg</wicri:noRegion></affiliation></author><author><name sortKey="Gwinn, Katrina" sort="Gwinn, Katrina" uniqKey="Gwinn K" first="Katrina" last="Gwinn">Katrina Gwinn</name><affiliation wicri:level="2"><inist:fA14 i1="10"><s1>Department of Molecular and Human Genetics, Baylor College of Medicine</s1><s2>Houston, Texas</s2><s3>USA</s3><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Texas</region></placeName></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="2"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>13 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></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="3"><inist:fA14 i1="11"><s1>Department of Neuroscience, Norwegian University of Science and Technology</s1><s2>Trondheim</s2><s3>NOR</s3><sZ>14 aut.</sZ></inist:fA14><country>Norvège</country><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Dublin Neurological Institute at the Mater Misericordiae University Hospital</s1><s2>Dublin</s2><s3>IRL</s3><sZ>15 aut.</sZ></inist:fA14><country>Irlande (pays)</country><wicri:noRegion>Dublin Neurological Institute at the Mater Misericordiae University Hospital</wicri:noRegion></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="2"><inist:fA14 i1="02"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></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="2"><inist:fA14 i1="02"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Kapatos, Gregory" sort="Kapatos, Gregory" uniqKey="Kapatos G" first="Gregory" last="Kapatos">Gregory Kapatos</name><affiliation wicri:level="2"><inist:fA14 i1="13"><s1>Center for Molecular Medicine and Genetics, Wayne State University School of Medicine</s1><s2>Detroit, Michigan</s2><s3>USA</s3><sZ>18 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Michigan</region></placeName></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="2"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>13 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">09-0482370</idno><date when="2009">2009</date><idno type="stanalyst">PASCAL 09-0482370 INIST</idno><idno type="RBID">Pascal:09-0482370</idno><idno type="wicri:Area/PascalFrancis/Corpus">000499</idno><idno type="wicri:Area/PascalFrancis/Curation">000793</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000467</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000467</idno><idno type="wicri:doubleKey">0885-3185:2009:Cobb S:gch:in:early</idno><idno type="wicri:Area/Main/Merge">002271</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">GCH1 in Early-Onset Parkinson's Disease</title><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="2"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>13 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>13 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>13 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Neurology, University of Washington School of Medicine</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>4 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Adler, Charles H" sort="Adler, Charles H" uniqKey="Adler C" first="Charles H." last="Adler">Charles H. Adler</name><affiliation wicri:level="2"><inist:fA14 i1="04"><s1>Department of Neurology, Mayo Clinic</s1><s2>Scottsdale, Arizona</s2><s3>USA</s3><sZ>5 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Division of Neurology, Royal University Hospital, University of Saskatchewan</s1><s2>Saskatoon, Saskatchewan</s2><s3>CAN</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Saskatoon, Saskatchewan</wicri:noRegion></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"><inist:fA14 i1="05"><s1>Division of Neurology, Royal University Hospital, University of Saskatchewan</s1><s2>Saskatoon, Saskatchewan</s2><s3>CAN</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Saskatoon, Saskatchewan</wicri:noRegion></affiliation></author><author><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University</s1><s2>Taipei</s2><s3>TWN</s3><sZ>8 aut.</sZ></inist:fA14><country>Taïwan</country><wicri:noRegion>Taipei</wicri:noRegion></affiliation></author><author><name sortKey="Hauser, Robert" sort="Hauser, Robert" uniqKey="Hauser R" first="Robert" last="Hauser">Robert Hauser</name><affiliation wicri:level="4"><inist:fA14 i1="07"><s1>Department of Neurology, University of South Florida</s1><s2>Tampa, Florida</s2><s3>USA</s3><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region><settlement type="city">Tampa</settlement></placeName><orgName type="university">Université de Floride du Sud</orgName></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="2"><inist:fA14 i1="08"><s1>Department of Neurology, Mayo Clinic</s1><s2>Rochester, Minnesota</s2><s3>USA</s3><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Neurophysiology Laboratory, University of Stellenbosch, Tygerberg Hospital</s1><s2>Tygerberg</s2><s3>ZAF</s3><sZ>11 aut.</sZ></inist:fA14><country>Afrique du Sud</country><wicri:noRegion>Tygerberg</wicri:noRegion></affiliation></author><author><name sortKey="Gwinn, Katrina" sort="Gwinn, Katrina" uniqKey="Gwinn K" first="Katrina" last="Gwinn">Katrina Gwinn</name><affiliation wicri:level="2"><inist:fA14 i1="10"><s1>Department of Molecular and Human Genetics, Baylor College of Medicine</s1><s2>Houston, Texas</s2><s3>USA</s3><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Texas</region></placeName></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="2"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>13 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></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="3"><inist:fA14 i1="11"><s1>Department of Neuroscience, Norwegian University of Science and Technology</s1><s2>Trondheim</s2><s3>NOR</s3><sZ>14 aut.</sZ></inist:fA14><country>Norvège</country><placeName><settlement type="city">Trondheim</settlement><region type="région" nuts="2">Trøndelag</region></placeName></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Dublin Neurological Institute at the Mater Misericordiae University Hospital</s1><s2>Dublin</s2><s3>IRL</s3><sZ>15 aut.</sZ></inist:fA14><country>Irlande (pays)</country><wicri:noRegion>Dublin Neurological Institute at the Mater Misericordiae University Hospital</wicri:noRegion></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="2"><inist:fA14 i1="02"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></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="2"><inist:fA14 i1="02"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Kapatos, Gregory" sort="Kapatos, Gregory" uniqKey="Kapatos G" first="Gregory" last="Kapatos">Gregory Kapatos</name><affiliation wicri:level="2"><inist:fA14 i1="13"><s1>Center for Molecular Medicine and Genetics, Wayne State University School of Medicine</s1><s2>Detroit, Michigan</s2><s3>USA</s3><sZ>18 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Michigan</region></placeName></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="2"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>13 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Floride</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Nervous system diseases</term><term>Parkinson disease</term><term>Segawa disease</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term><term>Pathologie du système nerveux</term><term>Maladie de Segawa</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in GTP-cyclohydrolase 1 (GCHI) 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 GCHI 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 GCHI locus in EOPD. However, our results further highlight the relevance of PRKN screening in familial EOPD.</div></front></TEI><affiliations><list><country><li>Afrique du Sud</li><li>Canada</li><li>Irlande (pays)</li><li>Norvège</li><li>Taïwan</li><li>États-Unis</li></country><region><li>Arizona</li><li>Floride</li><li>Michigan</li><li>Minnesota</li><li>Texas</li><li>Trøndelag</li><li>Washington (État)</li></region><settlement><li>Tampa</li><li>Trondheim</li></settlement><orgName><li>Université de Floride du Sud</li></orgName></list><tree><country name="États-Unis"><region name="Floride"><name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A." last="Cobb">Stephanie A. Cobb</name></region><name sortKey="Adler, Charles H" sort="Adler, Charles H" uniqKey="Adler C" first="Charles H." last="Adler">Charles H. Adler</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Gwinn, Katrina" sort="Gwinn, Katrina" uniqKey="Gwinn K" first="Katrina" last="Gwinn">Katrina Gwinn</name><name sortKey="Hauser, Robert" sort="Hauser, Robert" uniqKey="Hauser R" first="Robert" last="Hauser">Robert Hauser</name><name sortKey="Heckman, Michael G" sort="Heckman, Michael G" uniqKey="Heckman M" first="Michael G." last="Heckman">Michael G. Heckman</name><name sortKey="Josephs, Keith A" sort="Josephs, Keith A" uniqKey="Josephs K" first="Keith A." last="Josephs">Keith A. Josephs</name><name sortKey="Kapatos, Gregory" sort="Kapatos, Gregory" uniqKey="Kapatos G" first="Gregory" last="Kapatos">Gregory Kapatos</name><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name></country><country name="Canada"><noRegion><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name></noRegion><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H." last="Rajput">Ali H. Rajput</name></country><country name="Taïwan"><noRegion><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name></noRegion></country><country name="Afrique du Sud"><noRegion><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name></noRegion></country><country name="Norvège"><region name="Trøndelag"><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name></region></country><country name="Irlande (pays)"><noRegion><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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