Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa‐responsive dystonia with parkinsonism: A case report
Identifieur interne : 003E15 ( Main/Exploration ); précédent : 003E14; suivant : 003E16Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa‐responsive dystonia with parkinsonism: A case report
Auteurs : Akio Kikuchi [Japon] ; Atsushi Takeda [Japon] ; Kazuo Fujihara [Japon] ; Teiko Kimpara [Japon] ; Yusei Shiga [Japon] ; Hiroaki Tanji [Japon] ; Makiko Nagai [Japon] ; Hiroshi Ichinose [Japon] ; Fumi Urano [Japon] ; Nobuyuki Okamura [Japon] ; Hiroyuki Arai [Japon] ; Yasuto Itoyama [Japon]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-05.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Antiparkinson Agents (therapeutic use), Arg(184)His mutant, Arginine (genetics), Brain (blood supply), Brain (metabolism), Brain (pathology), Case study, Dopa, Dystonia, Dystonia (drug therapy), Dystonia (etiology), GTP Cyclohydrolase (genetics), GTP cyclohydrolase I, GTP cyclohydrolase I gene, Genes, Recessive (genetics), Humans, Hyperphenylalaninemia, Levodopa (therapeutic use), Magnetic Resonance Imaging, Male, Middle Aged, Nervous system diseases, Parkinsonian Disorders (etiology), Parkinsonism, Pedigree, Phenylketonurias (complications), Phenylketonurias (diagnosis), Phenylketonurias (genetics), Point Mutation (genetics), Tomography, Emission-Computed, Tomography, Emission-Computed, Single-Photon, adult‐onset, dopa‐responsive dystonia with parkinsonism, hyperphenylalaninemia.
- MESH :
- chemical , genetics : Arginine, GTP Cyclohydrolase.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- blood supply : Brain.
- complications : Phenylketonurias.
- diagnosis : Phenylketonurias.
- drug therapy : Dystonia.
- etiology : Dystonia, Parkinsonian Disorders.
- genetics : Genes, Recessive, Phenylketonurias, Point Mutation.
- metabolism : Brain.
- pathology : Brain.
- Humans, Magnetic Resonance Imaging, Male, Middle Aged, Pedigree, Tomography, Emission-Computed, Tomography, Emission-Computed, Single-Photon.
Abstract
We describe a 54‐year‐old man with dominant adult‐onset dopa‐responsive dystonia (DRD) with parkinsonism caused by an Arg184His mutation in guanosine 5′‐triphosphate cyclohydrolase I (GCH‐I). This is the first mutation in the GCH‐I gene that has been proven to be responsible for both recessive and dominant phenotypes. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.10712
Affiliations:
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sort="Tanji, Hiroaki" uniqKey="Tanji H" first="Hiroaki" last="Tanji">Hiroaki Tanji</name></author><author><name sortKey="Nagai, Makiko" sort="Nagai, Makiko" uniqKey="Nagai M" first="Makiko" last="Nagai">Makiko Nagai</name></author><author><name sortKey="Ichinose, Hiroshi" sort="Ichinose, Hiroshi" uniqKey="Ichinose H" first="Hiroshi" last="Ichinose">Hiroshi Ichinose</name></author><author><name sortKey="Urano, Fumi" sort="Urano, Fumi" uniqKey="Urano F" first="Fumi" last="Urano">Fumi Urano</name></author><author><name sortKey="Okamura, Nobuyuki" sort="Okamura, Nobuyuki" uniqKey="Okamura N" first="Nobuyuki" last="Okamura">Nobuyuki Okamura</name></author><author><name sortKey="Arai, Hiroyuki" sort="Arai, Hiroyuki" uniqKey="Arai H" first="Hiroyuki" last="Arai">Hiroyuki Arai</name></author><author><name sortKey="Itoyama, Yasuto" sort="Itoyama, Yasuto" uniqKey="Itoyama Y" first="Yasuto" last="Itoyama">Yasuto Itoyama</name></author></titleStmt><publicationStmt><idno 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xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Tohoku University School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Takeda, Atsushi" sort="Takeda, Atsushi" uniqKey="Takeda A" first="Atsushi" last="Takeda">Atsushi Takeda</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Tohoku University School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Fujihara, Kazuo" sort="Fujihara, Kazuo" uniqKey="Fujihara K" first="Kazuo" last="Fujihara">Kazuo Fujihara</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Tohoku University School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Kimpara, Teiko" sort="Kimpara, Teiko" uniqKey="Kimpara T" first="Teiko" last="Kimpara">Teiko Kimpara</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Tohoku University School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Shiga, Yusei" sort="Shiga, Yusei" uniqKey="Shiga Y" first="Yusei" last="Shiga">Yusei Shiga</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Tohoku University School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Tanji, Hiroaki" sort="Tanji, Hiroaki" uniqKey="Tanji H" first="Hiroaki" last="Tanji">Hiroaki Tanji</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Tohoku University School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Nagai, Makiko" sort="Nagai, Makiko" uniqKey="Nagai M" first="Makiko" last="Nagai">Makiko Nagai</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Tohoku University School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Ichinose, Hiroshi" sort="Ichinose, Hiroshi" uniqKey="Ichinose H" first="Hiroshi" last="Ichinose">Hiroshi Ichinose</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author><author><name sortKey="Urano, Fumi" sort="Urano, Fumi" uniqKey="Urano F" first="Fumi" last="Urano">Fumi Urano</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi</wicri:regionArea><wicri:noRegion>Aichi</wicri:noRegion></affiliation></author><author><name sortKey="Okamura, Nobuyuki" sort="Okamura, Nobuyuki" uniqKey="Okamura N" first="Nobuyuki" last="Okamura">Nobuyuki Okamura</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Geriatric Medicine, Tohoku University School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Arai, Hiroyuki" sort="Arai, Hiroyuki" uniqKey="Arai H" first="Hiroyuki" last="Arai">Hiroyuki Arai</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Geriatric Medicine, Tohoku University School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Itoyama, Yasuto" sort="Itoyama, Yasuto" uniqKey="Itoyama Y" first="Yasuto" last="Itoyama">Yasuto Itoyama</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Tohoku University School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></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="2004-05">2004-05</date><biblScope unit="vol">19</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="590">590</biblScope><biblScope unit="page" to="593">593</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">087A5CF2F2F8E6972285DD342FF9085C248D72A5</idno><idno type="DOI">10.1002/mds.10712</idno><idno type="ArticleID">MDS10712</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Antiparkinson Agents (therapeutic use)</term><term>Arg(184)His mutant</term><term>Arginine (genetics)</term><term>Brain (blood supply)</term><term>Brain (metabolism)</term><term>Brain (pathology)</term><term>Case study</term><term>Dopa</term><term>Dystonia</term><term>Dystonia (drug therapy)</term><term>Dystonia (etiology)</term><term>GTP Cyclohydrolase (genetics)</term><term>GTP cyclohydrolase I</term><term>GTP cyclohydrolase I gene</term><term>Genes, Recessive (genetics)</term><term>Humans</term><term>Hyperphenylalaninemia</term><term>Levodopa (therapeutic use)</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Nervous system diseases</term><term>Parkinsonian Disorders (etiology)</term><term>Parkinsonism</term><term>Pedigree</term><term>Phenylketonurias (complications)</term><term>Phenylketonurias (diagnosis)</term><term>Phenylketonurias (genetics)</term><term>Point Mutation (genetics)</term><term>Tomography, Emission-Computed</term><term>Tomography, Emission-Computed, Single-Photon</term><term>adult‐onset</term><term>dopa‐responsive dystonia with parkinsonism</term><term>hyperphenylalaninemia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term><term>GTP Cyclohydrolase</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="blood supply" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Phenylketonurias</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Phenylketonurias</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dystonia</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genes, Recessive</term><term>Phenylketonurias</term><term>Point Mutation</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Tomography, Emission-Computed</term><term>Tomography, Emission-Computed, Single-Photon</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dopa</term><term>Dystonie</term><term>Etude cas</term><term>GTP cyclohydrolase I</term><term>Hyperphénylalaninémie</term><term>Parkinsonisme</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe a 54‐year‐old man with dominant adult‐onset dopa‐responsive dystonia (DRD) with parkinsonism caused by an Arg184His mutation in guanosine 5′‐triphosphate cyclohydrolase I (GCH‐I). This is the first mutation in the GCH‐I gene that has been proven to be responsible for both recessive and dominant phenotypes. © 2004 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Japon</li></country></list><tree><country name="Japon"><noRegion><name sortKey="Kikuchi, Akio" sort="Kikuchi, Akio" uniqKey="Kikuchi A" first="Akio" last="Kikuchi">Akio Kikuchi</name></noRegion><name sortKey="Arai, Hiroyuki" sort="Arai, Hiroyuki" uniqKey="Arai H" first="Hiroyuki" last="Arai">Hiroyuki Arai</name><name sortKey="Fujihara, Kazuo" sort="Fujihara, Kazuo" uniqKey="Fujihara K" first="Kazuo" last="Fujihara">Kazuo Fujihara</name><name sortKey="Ichinose, Hiroshi" sort="Ichinose, Hiroshi" uniqKey="Ichinose H" first="Hiroshi" last="Ichinose">Hiroshi Ichinose</name><name sortKey="Itoyama, Yasuto" sort="Itoyama, Yasuto" uniqKey="Itoyama Y" first="Yasuto" last="Itoyama">Yasuto Itoyama</name><name sortKey="Kimpara, Teiko" sort="Kimpara, Teiko" uniqKey="Kimpara T" first="Teiko" last="Kimpara">Teiko Kimpara</name><name sortKey="Nagai, Makiko" sort="Nagai, Makiko" uniqKey="Nagai M" first="Makiko" last="Nagai">Makiko Nagai</name><name sortKey="Okamura, Nobuyuki" sort="Okamura, Nobuyuki" uniqKey="Okamura N" first="Nobuyuki" last="Okamura">Nobuyuki Okamura</name><name sortKey="Shiga, Yusei" sort="Shiga, Yusei" uniqKey="Shiga Y" first="Yusei" last="Shiga">Yusei Shiga</name><name sortKey="Takeda, Atsushi" sort="Takeda, Atsushi" uniqKey="Takeda A" first="Atsushi" last="Takeda">Atsushi Takeda</name><name sortKey="Tanji, Hiroaki" sort="Tanji, Hiroaki" uniqKey="Tanji H" first="Hiroaki" last="Tanji">Hiroaki Tanji</name><name sortKey="Urano, Fumi" sort="Urano, Fumi" uniqKey="Urano F" first="Fumi" last="Urano">Fumi Urano</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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