ParkinsonCanadaV1, Main, Exploration, bibRecord, 003511

Dopa‐responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene

Identifieur interne : 003511 ( Main/Exploration ); précédent : 003510; suivant : 003512

Dopa‐responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene

Auteurs : Yoshiaki Furukawa [Canada] ; Mark Guttman [Canada] ; Steven P. Sparagana [États-Unis] ; Joel M. Trugman [États-Unis] ; Keith Hyland [États-Unis] ; Philip Wyatt [Canada] ; Anthony E. Lang [Canada] ; Guy A. Rouleau [Canada] ; Mitsunobu Shimadzu [Japon] ; Stephen J. Kish [Canada]

Source :

Annals of Neurology [ 0364-5134 ] ; 2000-04.

RBID : ISTEX:8FA3A1651C73604004EAB93ABB731C4B3E218258

Abstract

Although it is assumed that most patients with autosomal dominant dopa‐responsive dystonia (DRD) have a GTP cyclohydrolase I dysfunction, conventional genomic DNA sequencing of the gene (GCH1) coding for this enzyme fails to reveal any mutations in about 40% of DRD patients, which makes molecular genetic diagnosis difficult. We found a large heterozygous GCH1 deletion, which cannot be detected by the usual genomic DNA sequence analysis, in a three‐generation DRD family and conclude that a large genomic deletion in GCH1 may account for some “mutation‐negative” patients with dominantly inherited DRD. Ann Neurol 2000;47:517–520.

Url:

https://api-v5.istex.fr/document/8FA3A1651C73604004EAB93ABB731C4B3E218258/fulltext/pdf

DOI: 10.1002/1531-8249(200004)47:4<517::AID-ANA17>3.0.CO;2-B

Affiliations:

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

to stream Istex, to step Corpus: 002458
to stream Istex, to step Curation: 002458
to stream Istex, to step Checkpoint: 001233
to stream Main, to step Merge: 003A40
to stream Main, to step Curation: 003511

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Dopa‐responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene</title>
<author><name sortKey="Furukawa, Yoshiaki" sort="Furukawa, Yoshiaki" uniqKey="Furukawa Y" first="Yoshiaki" last="Furukawa">Yoshiaki Furukawa</name>
</author>
<author><name sortKey="Guttman, Mark" sort="Guttman, Mark" uniqKey="Guttman M" first="Mark" last="Guttman">Mark Guttman</name>
</author>
<author><name sortKey="Sparagana, Steven P" sort="Sparagana, Steven P" uniqKey="Sparagana S" first="Steven P." last="Sparagana">Steven P. Sparagana</name>
</author>
<author><name sortKey="Trugman, Joel M" sort="Trugman, Joel M" uniqKey="Trugman J" first="Joel M." last="Trugman">Joel M. Trugman</name>
</author>
<author><name sortKey="Hyland, Keith" sort="Hyland, Keith" uniqKey="Hyland K" first="Keith" last="Hyland">Keith Hyland</name>
</author>
<author><name sortKey="Wyatt, Philip" sort="Wyatt, Philip" uniqKey="Wyatt P" first="Philip" last="Wyatt">Philip Wyatt</name>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
</author>
<author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name>
</author>
<author><name sortKey="Shimadzu, Mitsunobu" sort="Shimadzu, Mitsunobu" uniqKey="Shimadzu M" first="Mitsunobu" last="Shimadzu">Mitsunobu Shimadzu</name>
</author>
<author><name sortKey="Kish, Stephen J" sort="Kish, Stephen J" uniqKey="Kish S" first="Stephen J." last="Kish">Stephen J. Kish</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:8FA3A1651C73604004EAB93ABB731C4B3E218258</idno>
<date when="2000" year="2000">2000</date>
<idno type="doi">10.1002/1531-8249(200004)47:4<517::AID-ANA17>3.0.CO;2-B</idno>
<idno type="url">https://api-v5.istex.fr/document/8FA3A1651C73604004EAB93ABB731C4B3E218258/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002458</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002458</idno>
<idno type="wicri:Area/Istex/Curation">002458</idno>
<idno type="wicri:Area/Istex/Checkpoint">001233</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">001233</idno>
<idno type="wicri:doubleKey">0364-5134:2000:Furukawa Y:dopa:responsive:dystonia</idno>
<idno type="wicri:Area/Main/Merge">003A40</idno>
<idno type="wicri:Area/Main/Curation">003511</idno>
<idno type="wicri:Area/Main/Exploration">003511</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Dopa‐responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene</title>
<author><name sortKey="Furukawa, Yoshiaki" sort="Furukawa, Yoshiaki" uniqKey="Furukawa Y" first="Yoshiaki" last="Furukawa">Yoshiaki Furukawa</name>
<affiliation wicri:level="1"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Movement Disorders Research Laboratory, Centre for Addiction and Mental Health, Clarke Division, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country>Canada</country>
<wicri:regionArea>Movement Disorders Research Laboratory (R 211), Centre for Addiction and Mental Health, Clarke Division, 250 College Street, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Guttman, Mark" sort="Guttman, Mark" uniqKey="Guttman M" first="Mark" last="Guttman">Mark Guttman</name>
<affiliation wicri:level="1"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Human Neurochemical Pathology Laboratory, Centre for Addiction and Mental Health, Clarke Division, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sparagana, Steven P" sort="Sparagana, Steven P" uniqKey="Sparagana S" first="Steven P." last="Sparagana">Steven P. Sparagana</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Texas Scottish Rite Hospital for Children, Dallas</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Department of Neurology, University of Texas Southwestern Medical Center, Dallas</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Trugman, Joel M" sort="Trugman, Joel M" uniqKey="Trugman J" first="Joel M." last="Trugman">Joel M. Trugman</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Virginie</region>
</placeName>
<wicri:cityArea>Department of Neurology, University of Virginia School of Medicine, Charlottesville</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Hyland, Keith" sort="Hyland, Keith" uniqKey="Hyland K" first="Keith" last="Hyland">Keith Hyland</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Department of Neurology, University of Texas Southwestern Medical Center, Dallas</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Institute of Metabolic Disease, Baylor University Medical Center, Dallas</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Wyatt, Philip" sort="Wyatt, Philip" uniqKey="Wyatt P" first="Philip" last="Wyatt">Philip Wyatt</name>
<affiliation wicri:level="1"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Genetics, North York General Hospital, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation wicri:level="1"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Movement Disorders Centre, Toronto Hospital, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name>
<affiliation wicri:level="1"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Montreal General Hospital Research Institute, Montreal, Quebec</wicri:regionArea>
<wicri:noRegion>Quebec</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Shimadzu, Mitsunobu" sort="Shimadzu, Mitsunobu" uniqKey="Shimadzu M" first="Mitsunobu" last="Shimadzu">Mitsunobu Shimadzu</name>
<affiliation wicri:level="3"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Genetics, Mitsubishi Kagaku Bio‐Clinical Laboratories, Inc, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kish, Stephen J" sort="Kish, Stephen J" uniqKey="Kish S" first="Stephen J." last="Kish">Stephen J. Kish</name>
<affiliation wicri:level="1"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Human Neurochemical Pathology Laboratory, Centre for Addiction and Mental Health, Clarke Division, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Annals of Neurology</title>
<title level="j" type="sub">Official Journal of the American Neurological Association and the Child Neurology Society</title>
<title level="j" type="abbrev">Ann Neurol.</title>
<idno type="ISSN">0364-5134</idno>
<idno type="eISSN">1531-8249</idno>
<imprint><publisher>John Wiley & Sons, Inc.</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="2000-04">2000-04</date>
<biblScope unit="volume">47</biblScope>
<biblScope unit="issue">4</biblScope>
<biblScope unit="page" from="517">517</biblScope>
<biblScope unit="page" to="520">520</biblScope>
</imprint>
<idno type="ISSN">0364-5134</idno>
</series>
<idno type="istex">8FA3A1651C73604004EAB93ABB731C4B3E218258</idno>
<idno type="DOI">10.1002/1531-8249(200004)47:4<517::AID-ANA17>3.0.CO;2-B</idno>
<idno type="ArticleID">ANA17</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0364-5134</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass></textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Although it is assumed that most patients with autosomal dominant dopa‐responsive dystonia (DRD) have a GTP cyclohydrolase I dysfunction, conventional genomic DNA sequencing of the gene (GCH1) coding for this enzyme fails to reveal any mutations in about 40% of DRD patients, which makes molecular genetic diagnosis difficult. We found a large heterozygous GCH1 deletion, which cannot be detected by the usual genomic DNA sequence analysis, in a three‐generation DRD family and conclude that a large genomic deletion in GCH1 may account for some “mutation‐negative” patients with dominantly inherited DRD. Ann Neurol 2000;47:517–520.</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
<li>Japon</li>
<li>États-Unis</li>
</country>
<region><li>Texas</li>
<li>Virginie</li>
</region>
<settlement><li>Tokyo</li>
</settlement>
</list>
<tree><country name="Canada"><noRegion><name sortKey="Furukawa, Yoshiaki" sort="Furukawa, Yoshiaki" uniqKey="Furukawa Y" first="Yoshiaki" last="Furukawa">Yoshiaki Furukawa</name>
</noRegion>
<name sortKey="Furukawa, Yoshiaki" sort="Furukawa, Yoshiaki" uniqKey="Furukawa Y" first="Yoshiaki" last="Furukawa">Yoshiaki Furukawa</name>
<name sortKey="Guttman, Mark" sort="Guttman, Mark" uniqKey="Guttman M" first="Mark" last="Guttman">Mark Guttman</name>
<name sortKey="Kish, Stephen J" sort="Kish, Stephen J" uniqKey="Kish S" first="Stephen J." last="Kish">Stephen J. Kish</name>
<name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A." last="Rouleau">Guy A. Rouleau</name>
<name sortKey="Wyatt, Philip" sort="Wyatt, Philip" uniqKey="Wyatt P" first="Philip" last="Wyatt">Philip Wyatt</name>
</country>
<country name="États-Unis"><region name="Texas"><name sortKey="Sparagana, Steven P" sort="Sparagana, Steven P" uniqKey="Sparagana S" first="Steven P." last="Sparagana">Steven P. Sparagana</name>
</region>
<name sortKey="Hyland, Keith" sort="Hyland, Keith" uniqKey="Hyland K" first="Keith" last="Hyland">Keith Hyland</name>
<name sortKey="Hyland, Keith" sort="Hyland, Keith" uniqKey="Hyland K" first="Keith" last="Hyland">Keith Hyland</name>
<name sortKey="Sparagana, Steven P" sort="Sparagana, Steven P" uniqKey="Sparagana S" first="Steven P." last="Sparagana">Steven P. Sparagana</name>
<name sortKey="Trugman, Joel M" sort="Trugman, Joel M" uniqKey="Trugman J" first="Joel M." last="Trugman">Joel M. Trugman</name>
</country>
<country name="Japon"><noRegion><name sortKey="Shimadzu, Mitsunobu" sort="Shimadzu, Mitsunobu" uniqKey="Shimadzu M" first="Mitsunobu" last="Shimadzu">Mitsunobu Shimadzu</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003511 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003511 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Canada
   |area=    ParkinsonCanadaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:8FA3A1651C73604004EAB93ABB731C4B3E218258
   |texte=   Dopa‐responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene
}}

This area was generated with Dilib version V0.6.29.
Data generation: Thu May 4 22:20:19 2017. Site generation: Fri Dec 23 23:17:26 2022

	La maladie de Parkinson au Canada (serveur d'exploration)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

La maladie de Parkinson au Canada (serveur d'exploration)

Dopa‐responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene

Dopa‐responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene

Source :

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri