ParkinsonCanadaV1, PascalFrancis, Corpus, bibRecord, 000499

GCH1 in Early-Onset Parkinson's Disease

Identifieur interne : 000499 ( PascalFrancis/Corpus ); précédent : 000498; suivant : 000500

GCH1 in Early-Onset Parkinson's Disease

Auteurs : Stephanie A. Cobb ; Christian Wider ; Owen A. Ross ; Ignacio F. Mata ; Charles H. Adler ; Alex Rajput ; Ali H. Rajput ; Ruey-Meei Wu ; Robert Hauser ; Keith A. Josephs ; Jonathan Carr ; Katrina Gwinn ; Michael G. Heckman ; Jan O. Aasly ; Timothy Lynch ; Ryan J. Uitti ; Zbigniew K. Wszolek ; Gregory Kapatos ; Matthew J. Farrer

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:09-0482370

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Maladie de Segawa.

English descriptors

KwdEn :
- Nervous system diseases, Parkinson disease, Segawa disease.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A03		`1`		`@0 Mov. disord.`
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A06				`@2 14`
A08	`01`	`1`	`ENG`	`@1 GCH1 in Early-Onset Parkinson's Disease`
A11	`01`	`1`		`@1 COBB (Stephanie A.)`
A11	`02`	`1`		`@1 WIDER (Christian)`
A11	`03`	`1`		`@1 ROSS (Owen A.)`
A11	`04`	`1`		`@1 MATA (Ignacio F.)`
A11	`05`	`1`		`@1 ADLER (Charles H.)`
A11	`06`	`1`		`@1 RAJPUT (Alex)`
A11	`07`	`1`		`@1 RAJPUT (Ali H.)`
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A11	`11`	`1`		`@1 CARR (Jonathan)`
A11	`12`	`1`		`@1 GWINN (Katrina)`
A11	`13`	`1`		`@1 HECKMAN (Michael G.)`
A11	`14`	`1`		`@1 AASLY (Jan O.)`
A11	`15`	`1`		`@1 LYNCH (Timothy)`
A11	`16`	`1`		`@1 UITTI (Ryan J.)`
A11	`17`	`1`		`@1 WSZOLEK (Zbigniew K.)`
A11	`18`	`1`		`@1 KAPATOS (Gregory)`
A11	`19`	`1`		`@1 FARRER (Matthew J.)`
A14	`01`			`@1 Division of Neurogenetics, Department of Neuroscience, Mayo Clinic @2 Jacksonville, Florida @3 USA @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 13 aut. @Z 19 aut.`
A14	`02`			`@1 Department of Neurology, Mayo Clinic @2 Jacksonville, Florida @3 USA @Z 2 aut. @Z 16 aut. @Z 17 aut.`
A14	`03`			`@1 Department of Neurology, University of Washington School of Medicine @2 Seattle, Washington @3 USA @Z 4 aut.`
A14	`04`			`@1 Department of Neurology, Mayo Clinic @2 Scottsdale, Arizona @3 USA @Z 5 aut.`
A14	`05`			`@1 Division of Neurology, Royal University Hospital, University of Saskatchewan @2 Saskatoon, Saskatchewan @3 CAN @Z 6 aut. @Z 7 aut.`
A14	`06`			`@1 Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University @2 Taipei @3 TWN @Z 8 aut.`
A14	`07`			`@1 Department of Neurology, University of South Florida @2 Tampa, Florida @3 USA @Z 9 aut.`
A14	`08`			`@1 Department of Neurology, Mayo Clinic @2 Rochester, Minnesota @3 USA @Z 10 aut.`
A14	`09`			`@1 Neurophysiology Laboratory, University of Stellenbosch, Tygerberg Hospital @2 Tygerberg @3 ZAF @Z 11 aut.`
A14	`10`			`@1 Department of Molecular and Human Genetics, Baylor College of Medicine @2 Houston, Texas @3 USA @Z 12 aut.`
A14	`11`			`@1 Department of Neuroscience, Norwegian University of Science and Technology @2 Trondheim @3 NOR @Z 14 aut.`
A14	`12`			`@1 Dublin Neurological Institute at the Mater Misericordiae University Hospital @2 Dublin @3 IRL @Z 15 aut.`
A14	`13`			`@1 Center for Molecular Medicine and Genetics, Wayne State University School of Medicine @2 Detroit, Michigan @3 USA @Z 18 aut.`
A20				`@1 2070-2075`
A21				`@1 2009`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000171427050050`
A44				`@0 0000 @1 © 2009 INIST-CNRS. All rights reserved.`
A45				`@0 25 ref.`
A47	`01`	`1`		`@0 09-0482370`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Maladie de Parkinson @2 NM @5 01`
C03	`01`	`X`	`ENG`	`@0 Parkinson disease @2 NM @5 01`
C03	`01`	`X`	`SPA`	`@0 Parkinson enfermedad @2 NM @5 01`
C03	`02`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
C03	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 02`
C03	`03`	`X`	`FRE`	`@0 Maladie de Segawa @4 CD @5 96`
C03	`03`	`X`	`ENG`	`@0 Segawa disease @4 CD @5 96`
C03	`03`	`X`	`SPA`	`@0 Segawa enfermedad @4 CD @5 96`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Maladie héréditaire @5 42`
C07	`05`	`X`	`ENG`	`@0 Genetic disease @5 42`
C07	`05`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 42`
N21				`@1 348`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 09-0482370 INIST
ET :	GCH1 in Early-Onset Parkinson's Disease
AU :	COBB (Stephanie A.); WIDER (Christian); ROSS (Owen A.); MATA (Ignacio F.); ADLER (Charles H.); RAJPUT (Alex); RAJPUT (Ali H.); WU (Ruey-Meei); HAUSER (Robert); JOSEPHS (Keith A.); CARR (Jonathan); GWINN (Katrina); HECKMAN (Michael G.); AASLY (Jan O.); LYNCH (Timothy); UITTI (Ryan J.); WSZOLEK (Zbigniew K.); KAPATOS (Gregory); FARRER (Matthew J.)
AF :	Division of Neurogenetics, Department of Neuroscience, Mayo Clinic/Jacksonville, Florida/Etats-Unis (1 aut., 2 aut., 3 aut., 13 aut., 19 aut.); Department of Neurology, Mayo Clinic/Jacksonville, Florida/Etats-Unis (2 aut., 16 aut., 17 aut.); Department of Neurology, University of Washington School of Medicine/Seattle, Washington/Etats-Unis (4 aut.); Department of Neurology, Mayo Clinic/Scottsdale, Arizona/Etats-Unis (5 aut.); Division of Neurology, Royal University Hospital, University of Saskatchewan/Saskatoon, Saskatchewan/Canada (6 aut., 7 aut.); Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University/Taipei/Taïwan (8 aut.); Department of Neurology, University of South Florida/Tampa, Florida/Etats-Unis (9 aut.); Department of Neurology, Mayo Clinic/Rochester, Minnesota/Etats-Unis (10 aut.); Neurophysiology Laboratory, University of Stellenbosch, Tygerberg Hospital/Tygerberg/Afrique du Sud (11 aut.); Department of Molecular and Human Genetics, Baylor College of Medicine/Houston, Texas/Etats-Unis (12 aut.); Department of Neuroscience, Norwegian University of Science and Technology/Trondheim/Norvège (14 aut.); Dublin Neurological Institute at the Mater Misericordiae University Hospital/Dublin/Irlande (15 aut.); Center for Molecular Medicine and Genetics, Wayne State University School of Medicine/Detroit, Michigan/Etats-Unis (18 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 14; Pp. 2070-2075; Bibl. 25 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G
FD :	Maladie de Parkinson; Pathologie du système nerveux; Maladie de Segawa
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central; Maladie héréditaire
ED :	Parkinson disease; Nervous system diseases; Segawa disease
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease; Genetic disease
SD :	Parkinson enfermedad; Sistema nervioso patología; Segawa enfermedad
LO :	INIST-20953.354000171427050050
ID :	09-0482370

Links to Exploration step

Pascal:09-0482370

Le document en format XML

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<author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name>
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<author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
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<author><name sortKey="Kapatos, Gregory" sort="Kapatos, Gregory" uniqKey="Kapatos G" first="Gregory" last="Kapatos">Gregory Kapatos</name>
<affiliation><inist:fA14 i1="13"><s1>Center for Molecular Medicine and Genetics, Wayne State University School of Medicine</s1>
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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>
<affiliation><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1>
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<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><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
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<author><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name>
<affiliation><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
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<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Mayo Clinic</s1>
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<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<affiliation><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>
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<author><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name>
<affiliation><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>
</affiliation>
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<author><name sortKey="Adler, Charles H" sort="Adler, Charles H" uniqKey="Adler C" first="Charles H." last="Adler">Charles H. Adler</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neurology, Mayo Clinic</s1>
<s2>Scottsdale, Arizona</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name>
<affiliation><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>
</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><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Hauser, Robert" sort="Hauser, Robert" uniqKey="Hauser R" first="Robert" last="Hauser">Robert Hauser</name>
<affiliation><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>
</affiliation>
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<author><name sortKey="Josephs, Keith A" sort="Josephs, Keith A" uniqKey="Josephs K" first="Keith A." last="Josephs">Keith A. Josephs</name>
<affiliation><inist:fA14 i1="08"><s1>Department of Neurology, Mayo Clinic</s1>
<s2>Rochester, Minnesota</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Gwinn, Katrina" sort="Gwinn, Katrina" uniqKey="Gwinn K" first="Katrina" last="Gwinn">Katrina Gwinn</name>
<affiliation><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>
</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><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name>
<affiliation><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>
</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><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Kapatos, Gregory" sort="Kapatos, Gregory" uniqKey="Kapatos G" first="Gregory" last="Kapatos">Gregory Kapatos</name>
<affiliation><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>
</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><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>
</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>
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</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>
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</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>GCH1 in Early-Onset Parkinson's Disease</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>COBB (Stephanie A.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>WIDER (Christian)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>ROSS (Owen A.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>MATA (Ignacio F.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>ADLER (Charles H.)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>RAJPUT (Alex)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>RAJPUT (Ali H.)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>WU (Ruey-Meei)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>HAUSER (Robert)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>JOSEPHS (Keith A.)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>CARR (Jonathan)</s1>
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<fA11 i1="12" i2="1"><s1>GWINN (Katrina)</s1>
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<fA11 i1="13" i2="1"><s1>HECKMAN (Michael G.)</s1>
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<fA11 i1="14" i2="1"><s1>AASLY (Jan O.)</s1>
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<fA11 i1="15" i2="1"><s1>LYNCH (Timothy)</s1>
</fA11>
<fA11 i1="16" i2="1"><s1>UITTI (Ryan J.)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>WSZOLEK (Zbigniew K.)</s1>
</fA11>
<fA11 i1="18" i2="1"><s1>KAPATOS (Gregory)</s1>
</fA11>
<fA11 i1="19" i2="1"><s1>FARRER (Matthew J.)</s1>
</fA11>
<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>
</fA14>
<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>
</fA14>
<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>
</fA14>
<fA14 i1="04"><s1>Department of Neurology, Mayo Clinic</s1>
<s2>Scottsdale, Arizona</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
</fA14>
<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>
</fA14>
<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>
</fA14>
<fA14 i1="07"><s1>Department of Neurology, University of South Florida</s1>
<s2>Tampa, Florida</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Department of Neurology, Mayo Clinic</s1>
<s2>Rochester, Minnesota</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Neurophysiology Laboratory, University of Stellenbosch, Tygerberg Hospital</s1>
<s2>Tygerberg</s2>
<s3>ZAF</s3>
<sZ>11 aut.</sZ>
</fA14>
<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>
</fA14>
<fA14 i1="11"><s1>Department of Neuroscience, Norwegian University of Science and Technology</s1>
<s2>Trondheim</s2>
<s3>NOR</s3>
<sZ>14 aut.</sZ>
</fA14>
<fA14 i1="12"><s1>Dublin Neurological Institute at the Mater Misericordiae University Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>15 aut.</sZ>
</fA14>
<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>
</fA14>
<fA20><s1>2070-2075</s1>
</fA20>
<fA21><s1>2009</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
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<fA43 i1="01"><s1>INIST</s1>
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<s5>354000171427050050</s5>
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<fA44><s0>0000</s0>
<s1>© 2009 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>25 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>09-0482370</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Maladie de Parkinson</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Maladie de Segawa</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Segawa disease</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Segawa enfermedad</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>42</s5>
</fC07>
<fN21><s1>348</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 09-0482370 INIST</NO>
<ET>GCH1 in Early-Onset Parkinson's Disease</ET>
<AU>COBB (Stephanie A.); WIDER (Christian); ROSS (Owen A.); MATA (Ignacio F.); ADLER (Charles H.); RAJPUT (Alex); RAJPUT (Ali H.); WU (Ruey-Meei); HAUSER (Robert); JOSEPHS (Keith A.); CARR (Jonathan); GWINN (Katrina); HECKMAN (Michael G.); AASLY (Jan O.); LYNCH (Timothy); UITTI (Ryan J.); WSZOLEK (Zbigniew K.); KAPATOS (Gregory); FARRER (Matthew J.)</AU>
<AF>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic/Jacksonville, Florida/Etats-Unis (1 aut., 2 aut., 3 aut., 13 aut., 19 aut.); Department of Neurology, Mayo Clinic/Jacksonville, Florida/Etats-Unis (2 aut., 16 aut., 17 aut.); Department of Neurology, University of Washington School of Medicine/Seattle, Washington/Etats-Unis (4 aut.); Department of Neurology, Mayo Clinic/Scottsdale, Arizona/Etats-Unis (5 aut.); Division of Neurology, Royal University Hospital, University of Saskatchewan/Saskatoon, Saskatchewan/Canada (6 aut., 7 aut.); Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University/Taipei/Taïwan (8 aut.); Department of Neurology, University of South Florida/Tampa, Florida/Etats-Unis (9 aut.); Department of Neurology, Mayo Clinic/Rochester, Minnesota/Etats-Unis (10 aut.); Neurophysiology Laboratory, University of Stellenbosch, Tygerberg Hospital/Tygerberg/Afrique du Sud (11 aut.); Department of Molecular and Human Genetics, Baylor College of Medicine/Houston, Texas/Etats-Unis (12 aut.); Department of Neuroscience, Norwegian University of Science and Technology/Trondheim/Norvège (14 aut.); Dublin Neurological Institute at the Mater Misericordiae University Hospital/Dublin/Irlande (15 aut.); Center for Molecular Medicine and Genetics, Wayne State University School of Medicine/Detroit, Michigan/Etats-Unis (18 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 14; Pp. 2070-2075; Bibl. 25 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G</CC>
<FD>Maladie de Parkinson; Pathologie du   système nerveux; Maladie de Segawa</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du   système nerveux central; Maladie héréditaire</FG>
<ED>Parkinson disease; Nervous system diseases; Segawa disease</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease; Genetic disease</EG>
<SD>Parkinson enfermedad; Sistema nervioso patología; Segawa enfermedad</SD>
<LO>INIST-20953.354000171427050050</LO>
<ID>09-0482370</ID>
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	La maladie de Parkinson au Canada (serveur d'exploration)
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La maladie de Parkinson au Canada (serveur d'exploration)

GCH1 in Early-Onset Parkinson's Disease

GCH1 in Early-Onset Parkinson's Disease

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