Novel GCH1 mutation in a Brazilian family with dopa‐responsive dystonia
Identifieur interne : 002728 ( Main/Exploration ); précédent : 002727; suivant : 002729Novel GCH1 mutation in a Brazilian family with dopa‐responsive dystonia
Auteurs : Sarah Teixeira Camargos [Brésil] ; Francisco Cardoso [Brésil] ; Parastoo Momeni [États-Unis] ; Juliana Gurgel Gianetti [Brésil] ; Andrew Lees (neurologue) [Royaume-Uni] ; John Hardy [États-Unis, Royaume-Uni] ; Andrew Singleton [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-01-30.
Descripteurs français
- Wicri :
- geographic : Brésil.
English descriptors
- KwdEn :
- Arginine (genetics), Brazil (epidemiology), Brazilian families, Dopamine Agents (therapeutic use), Dystonia (drug therapy), Dystonia (genetics), Family Health, GCH1, GTP Cyclohydrolase (genetics), GTP‐cyclohydrolase, Humans, Levodopa (therapeutic use), Lysine (genetics), Methionine (genetics), Mutation (genetics), Segawa disease, Valine (genetics), dopa‐responsive dystonia.
- MESH :
- chemical , genetics : Arginine, GTP Cyclohydrolase, Lysine, Methionine, Valine.
- geographic , epidemiology : Brazil.
- chemical , therapeutic use : Dopamine Agents, Levodopa.
- drug therapy : Dystonia.
- genetics : Dystonia, Mutation.
- Family Health, Humans.
Abstract
Dopa responsive Dystonia (DRD) was first described in 1971 and typically begins at childhood with gait dysfunction caused by foot dystonia progressing to affect other extremities. There is marked diurnal fluctuation and sustained improvement of symptoms with low dose levodopa therapy. Heterozygous mutation of the gene GCH1 has been shown to cause DRD. We studied GCH1 in nine patients with DRD from six families of Federal University of Minas Gerais Movement Disorders Clinic. We identified three mutations; two affected siblings carried a novel T209P mutation and two siblings from another family were compound heterozygous carriers of Met211Val and Lys224Arg mutations. To our knowledge this is the first report of GCH1 mutations underlying DRD in patients from Brazil. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21842
Affiliations:
- Brésil, Royaume-Uni, États-Unis
- Angleterre, Grand Londres, Maryland, Minas Gerais, Texas
- Belo Horizonte, Londres
- National Hospital for Neurology and Neurosurgery, Université fédérale du Minas Gerais
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002E17
- to stream Istex, to step Curation: 002E17
- to stream Istex, to step Checkpoint: 001284
- to stream PubMed, to step Corpus: 002422
- to stream PubMed, to step Curation: 002422
- to stream PubMed, to step Checkpoint: 002179
- to stream Ncbi, to step Merge: 001F37
- to stream Ncbi, to step Curation: 001F37
- to stream Ncbi, to step Checkpoint: 001F37
- to stream Main, to step Merge: 003306
- to stream Main, to step Curation: 002728
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Novel GCH1 mutation in a Brazilian family with dopa‐responsive dystonia</title><author><name sortKey="Camargos, Sarah Teixeira" sort="Camargos, Sarah Teixeira" uniqKey="Camargos S" first="Sarah Teixeira" last="Camargos">Sarah Teixeira Camargos</name></author><author><name sortKey="Cardoso, Francisco" sort="Cardoso, Francisco" uniqKey="Cardoso F" first="Francisco" last="Cardoso">Francisco Cardoso</name></author><author><name sortKey="Momeni, Parastoo" sort="Momeni, Parastoo" uniqKey="Momeni P" first="Parastoo" last="Momeni">Parastoo Momeni</name></author><author><name sortKey="Gurgel Gianetti, Juliana" sort="Gurgel Gianetti, Juliana" uniqKey="Gurgel Gianetti J" first="Juliana" last="Gurgel Gianetti">Juliana Gurgel Gianetti</name></author><author><name sortKey="Lees, Andrew" sort="Lees, Andrew" uniqKey="Lees A" first="Andrew" last="Lees">Andrew Lees (neurologue)</name><affiliation><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:78F13D2C1886EE456A21A1A6D8254D774E75F83A</idno><date when="2008" year="2008">2008</date><idno type="doi">10.1002/mds.21842</idno><idno type="url">https://api.istex.fr/document/78F13D2C1886EE456A21A1A6D8254D774E75F83A/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002E17</idno><idno type="wicri:Area/Istex/Curation">002E17</idno><idno type="wicri:Area/Istex/Checkpoint">001284</idno><idno type="wicri:doubleKey">0885-3185:2008:Camargos S:novel:gch:mutation</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:18044725</idno><idno type="wicri:Area/PubMed/Corpus">002422</idno><idno type="wicri:Area/PubMed/Curation">002422</idno><idno type="wicri:Area/PubMed/Checkpoint">002179</idno><idno type="wicri:Area/Ncbi/Merge">001F37</idno><idno type="wicri:Area/Ncbi/Curation">001F37</idno><idno type="wicri:Area/Ncbi/Checkpoint">001F37</idno><idno type="wicri:Area/Main/Merge">003306</idno><idno type="wicri:Area/Main/Curation">002728</idno><idno type="wicri:Area/Main/Exploration">002728</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Novel GCH1 mutation in a Brazilian family with dopa‐responsive dystonia</title><author><name sortKey="Camargos, Sarah Teixeira" sort="Camargos, Sarah Teixeira" uniqKey="Camargos S" first="Sarah Teixeira" last="Camargos">Sarah Teixeira Camargos</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Universidade Federal de Minas Gerais, Department of Clinical and Neurological Sciences, Movement Disorders Group</wicri:regionArea><orgName type="university">Université fédérale du Minas Gerais</orgName><placeName><settlement type="city">Belo Horizonte</settlement><region type="state">Minas Gerais</region></placeName></affiliation></author><author><name sortKey="Cardoso, Francisco" sort="Cardoso, Francisco" uniqKey="Cardoso F" first="Francisco" last="Cardoso">Francisco Cardoso</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Universidade Federal de Minas Gerais, Department of Clinical and Neurological Sciences, Movement Disorders Group</wicri:regionArea><orgName type="university">Université fédérale du Minas Gerais</orgName><placeName><settlement type="city">Belo Horizonte</settlement><region type="state">Minas Gerais</region></placeName></affiliation></author><author><name sortKey="Momeni, Parastoo" sort="Momeni, Parastoo" uniqKey="Momeni P" first="Parastoo" last="Momeni">Parastoo Momeni</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Texas Tech University Health Sciences Center, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Gurgel Gianetti, Juliana" sort="Gurgel Gianetti, Juliana" uniqKey="Gurgel Gianetti J" first="Juliana" last="Gurgel Gianetti">Juliana Gurgel Gianetti</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Universidade Federal de Minas Gerais, Department of Clinical and Neurological Sciences, Movement Disorders Group</wicri:regionArea><orgName type="university">Université fédérale du Minas Gerais</orgName><placeName><settlement type="city">Belo Horizonte</settlement><region type="state">Minas Gerais</region></placeName></affiliation></author><author><name sortKey="Lees, Andrew" sort="Lees, Andrew" uniqKey="Lees A" first="Andrew" last="Lees">Andrew Lees (neurologue)</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute of Neurological Studies, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</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="2008-01-30">2008-01-30</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="299">299</biblScope><biblScope unit="page" to="302">302</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">78F13D2C1886EE456A21A1A6D8254D774E75F83A</idno><idno type="DOI">10.1002/mds.21842</idno><idno type="ArticleID">MDS21842</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Arginine (genetics)</term><term>Brazil (epidemiology)</term><term>Brazilian families</term><term>Dopamine Agents (therapeutic use)</term><term>Dystonia (drug therapy)</term><term>Dystonia (genetics)</term><term>Family Health</term><term>GCH1</term><term>GTP Cyclohydrolase (genetics)</term><term>GTP‐cyclohydrolase</term><term>Humans</term><term>Levodopa (therapeutic use)</term><term>Lysine (genetics)</term><term>Methionine (genetics)</term><term>Mutation (genetics)</term><term>Segawa disease</term><term>Valine (genetics)</term><term>dopa‐responsive dystonia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term><term>GTP Cyclohydrolase</term><term>Lysine</term><term>Methionine</term><term>Valine</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Brazil</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Dopamine Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Family Health</term><term>Humans</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Dopa responsive Dystonia (DRD) was first described in 1971 and typically begins at childhood with gait dysfunction caused by foot dystonia progressing to affect other extremities. There is marked diurnal fluctuation and sustained improvement of symptoms with low dose levodopa therapy. Heterozygous mutation of the gene GCH1 has been shown to cause DRD. We studied GCH1 in nine patients with DRD from six families of Federal University of Minas Gerais Movement Disorders Clinic. We identified three mutations; two affected siblings carried a novel T209P mutation and two siblings from another family were compound heterozygous carriers of Met211Val and Lys224Arg mutations. To our knowledge this is the first report of GCH1 mutations underlying DRD in patients from Brazil. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Brésil</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Maryland</li><li>Minas Gerais</li><li>Texas</li></region><settlement><li>Belo Horizonte</li><li>Londres</li></settlement><orgName><li>National Hospital for Neurology and Neurosurgery</li><li>Université fédérale du Minas Gerais</li></orgName></list><tree><country name="Brésil"><region name="Minas Gerais"><name sortKey="Camargos, Sarah Teixeira" sort="Camargos, Sarah Teixeira" uniqKey="Camargos S" first="Sarah Teixeira" last="Camargos">Sarah Teixeira Camargos</name></region><name sortKey="Cardoso, Francisco" sort="Cardoso, Francisco" uniqKey="Cardoso F" first="Francisco" last="Cardoso">Francisco Cardoso</name><name sortKey="Gurgel Gianetti, Juliana" sort="Gurgel Gianetti, Juliana" uniqKey="Gurgel Gianetti J" first="Juliana" last="Gurgel Gianetti">Juliana Gurgel Gianetti</name></country><country name="États-Unis"><region name="Maryland"><name sortKey="Momeni, Parastoo" sort="Momeni, Parastoo" uniqKey="Momeni P" first="Parastoo" last="Momeni">Parastoo Momeni</name></region><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Momeni, Parastoo" sort="Momeni, Parastoo" uniqKey="Momeni P" first="Parastoo" last="Momeni">Parastoo Momeni</name><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Lees, Andrew" sort="Lees, Andrew" uniqKey="Lees A" first="Andrew" last="Lees">Andrew Lees (neurologue)</name></region><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002728 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002728 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:78F13D2C1886EE456A21A1A6D8254D774E75F83A
|texte= Novel GCH1 mutation in a Brazilian family with dopa‐responsive dystonia
}}
| This area was generated with Dilib version V0.6.23. |  |