Novel GCH1 mutation in a Brazilian family with dopa‐responsive dystonia
Identifieur interne : 003306 ( Main/Merge ); précédent : 003305; suivant : 003307Novel 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
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<author><name sortKey="Momeni, Parastoo" sort="Momeni, Parastoo" uniqKey="Momeni P" first="Parastoo" last="Momeni">Parastoo Momeni</name>
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<author><name sortKey="Gianetti, Juliana Gurgel" sort="Gianetti, Juliana Gurgel" uniqKey="Gianetti J" first="Juliana Gurgel" last="Gianetti">Juliana Gurgel Gianetti</name>
</author>
<author><name sortKey="Lees, Andrew" sort="Lees, Andrew" uniqKey="Lees A" first="Andrew" last="Lees">Andrew Lees</name>
</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">PubMed</idno>
<date when="2008">2008</date>
<idno type="doi">10.1002/mds.21842</idno>
<idno type="RBID">pubmed:18044725</idno>
<idno type="pmid">18044725</idno>
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<sourceDesc><biblStruct><analytic><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>
<affiliation wicri:level="4"><nlm:affiliation>Universidade Federal de Minas Gerais, Department of Clinical and Neurological Sciences, Movement Disorders Group, Brazil.</nlm:affiliation>
<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>
</author>
<author><name sortKey="Momeni, Parastoo" sort="Momeni, Parastoo" uniqKey="Momeni P" first="Parastoo" last="Momeni">Parastoo Momeni</name>
</author>
<author><name sortKey="Gianetti, Juliana Gurgel" sort="Gianetti, Juliana Gurgel" uniqKey="Gianetti J" first="Juliana Gurgel" last="Gianetti">Juliana Gurgel Gianetti</name>
</author>
<author><name sortKey="Lees, Andrew" sort="Lees, Andrew" uniqKey="Lees A" first="Andrew" last="Lees">Andrew Lees</name>
</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>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2008" type="published">2008</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Arginine (genetics)</term>
<term>Brazil (epidemiology)</term>
<term>Dopamine Agents (therapeutic use)</term>
<term>Dystonia (drug therapy)</term>
<term>Dystonia (genetics)</term>
<term>Family Health</term>
<term>GTP Cyclohydrolase (genetics)</term>
<term>Humans</term>
<term>Levodopa (therapeutic use)</term>
<term>Lysine (genetics)</term>
<term>Methionine (genetics)</term>
<term>Mutation (genetics)</term>
<term>Valine (genetics)</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>
</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.</div>
</front>
</TEI>
</PubMed>
</double>
</record>
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