MovDisordV3, Main, Merge, bibRecord, 005A83

Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: A case report

Identifieur interne : 005A83 ( Main/Merge ); précédent : 005A82; suivant : 005A84

Arg(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] ; Hirushi Ichinose [Japon] ; Fumi Urano [Japon] ; Nobuyuki Okamura [Japon] ; Hiroyuki Arai [Japon] ; Yasuto Itoyama [Japon]

Source :

Movement disorders [ 0885-3185 ] ; 2004.

RBID : Pascal:04-0302588

Descripteurs français

Pascal (Inist)
- Hyperphénylalaninémie, GTP cyclohydrolase I, Dopa, Dystonie, Etude cas, Parkinsonisme, Système nerveux pathologie.

English descriptors

KwdEn :
- Case study, Dopa, Dystonia, GTP cyclohydrolase I, Hyperphenylalaninemia, Nervous system diseases, Parkinsonism.

Abstract

We describe a 54-year-old man with dominant adult-onset dopa-responsive dystonia (DRD) with parkinsonism caused by an Argl84His 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.

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 002182
to stream PascalFrancis, to step Curation: 000B39
to stream PascalFrancis, to step Checkpoint: 002245

Links to Exploration step

Pascal:04-0302588

Le document en format XML

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<author><name sortKey="Kikuchi, Akio" sort="Kikuchi, Akio" uniqKey="Kikuchi A" first="Akio" last="Kikuchi">Akio Kikuchi</name>
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<author><name sortKey="Takeda, Atsushi" sort="Takeda, Atsushi" uniqKey="Takeda A" first="Atsushi" last="Takeda">Atsushi Takeda</name>
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<author><name sortKey="Fujihara, Kazuo" sort="Fujihara, Kazuo" uniqKey="Fujihara K" first="Kazuo" last="Fujihara">Kazuo Fujihara</name>
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<author><name sortKey="Kimpara, Teiko" sort="Kimpara, Teiko" uniqKey="Kimpara T" first="Teiko" last="Kimpara">Teiko Kimpara</name>
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<author><name sortKey="Shiga, Yusei" sort="Shiga, Yusei" uniqKey="Shiga Y" first="Yusei" last="Shiga">Yusei Shiga</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
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<author><name sortKey="Tanji, Hiroaki" sort="Tanji, Hiroaki" uniqKey="Tanji H" first="Hiroaki" last="Tanji">Hiroaki Tanji</name>
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<author><name sortKey="Nagai, Makiko" sort="Nagai, Makiko" uniqKey="Nagai M" first="Makiko" last="Nagai">Makiko Nagai</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
<s3>JPN</s3>
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<author><name sortKey="Ichinose, Hirushi" sort="Ichinose, Hirushi" uniqKey="Ichinose H" first="Hirushi" last="Ichinose">Hirushi Ichinose</name>
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<s2>Aichi</s2>
<s3>JPN</s3>
<sZ>8 aut.</sZ>
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</inist:fA14>
<country>Japon</country>
<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"><inist:fA14 i1="02"><s1>Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University</s1>
<s2>Aichi</s2>
<s3>JPN</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<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"><inist:fA14 i1="03"><s1>Department of Geriatric Medicine, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
<s3>JPN</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<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"><inist:fA14 i1="03"><s1>Department of Geriatric Medicine, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
<s3>JPN</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<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"><inist:fA14 i1="01"><s1>Department of Neurology, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">04-0302588</idno>
<date when="2004">2004</date>
<idno type="stanalyst">PASCAL 04-0302588 INIST</idno>
<idno type="RBID">Pascal:04-0302588</idno>
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<idno type="wicri:doubleKey">0885-3185:2004:Kikuchi A:arg:his:mutant</idno>
<idno type="wicri:Area/Main/Merge">005A83</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: A case report</title>
<author><name sortKey="Kikuchi, Akio" sort="Kikuchi, Akio" uniqKey="Kikuchi A" first="Akio" last="Kikuchi">Akio Kikuchi</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<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"><inist:fA14 i1="01"><s1>Department of Neurology, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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<sZ>7 aut.</sZ>
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</author>
<author><name sortKey="Fujihara, Kazuo" sort="Fujihara, Kazuo" uniqKey="Fujihara K" first="Kazuo" last="Fujihara">Kazuo Fujihara</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
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<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"><inist:fA14 i1="01"><s1>Department of Neurology, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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<sZ>7 aut.</sZ>
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<country>Japon</country>
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</affiliation>
</author>
<author><name sortKey="Shiga, Yusei" sort="Shiga, Yusei" uniqKey="Shiga Y" first="Yusei" last="Shiga">Yusei Shiga</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<sZ>7 aut.</sZ>
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</affiliation>
</author>
<author><name sortKey="Tanji, Hiroaki" sort="Tanji, Hiroaki" uniqKey="Tanji H" first="Hiroaki" last="Tanji">Hiroaki Tanji</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<sZ>12 aut.</sZ>
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<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"><inist:fA14 i1="01"><s1>Department of Neurology, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ichinose, Hirushi" sort="Ichinose, Hirushi" uniqKey="Ichinose H" first="Hirushi" last="Ichinose">Hirushi Ichinose</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University</s1>
<s2>Aichi</s2>
<s3>JPN</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<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"><inist:fA14 i1="02"><s1>Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University</s1>
<s2>Aichi</s2>
<s3>JPN</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<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"><inist:fA14 i1="03"><s1>Department of Geriatric Medicine, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
<s3>JPN</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<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"><inist:fA14 i1="03"><s1>Department of Geriatric Medicine, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
<s3>JPN</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<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"><inist:fA14 i1="01"><s1>Department of Neurology, Tohoku University School of Medicine</s1>
<s2>Sendai</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Japon</country>
<wicri:noRegion>Sendai</wicri:noRegion>
</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="2004">2004</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>Case study</term>
<term>Dopa</term>
<term>Dystonia</term>
<term>GTP cyclohydrolase I</term>
<term>Hyperphenylalaninemia</term>
<term>Nervous system diseases</term>
<term>Parkinsonism</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Hyperphénylalaninémie</term>
<term>GTP cyclohydrolase I</term>
<term>Dopa</term>
<term>Dystonie</term>
<term>Etude cas</term>
<term>Parkinsonisme</term>
<term>Système nerveux pathologie</term>
</keywords>
</textClass>
</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 Argl84His 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.</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, Hirushi" sort="Ichinose, Hirushi" uniqKey="Ichinose H" first="Hirushi" last="Ichinose">Hirushi 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>

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   |type=    RBID
   |clé=     Pascal:04-0302588
   |texte=   Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: A case report
}}

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	Movement Disorders (revue)
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Movement Disorders (revue)

Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: A case report

Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: A case report

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