Dopa‐responsive dystonia and early‐onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
Identifieur interne : 003576 ( Istex/Curation ); précédent : 003575; suivant : 003577Dopa‐responsive dystonia and early‐onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
Auteurs : Lena Elisabeth Hjermind [Danemark] ; Lis Gitte Johannsen [Danemark] ; Nenad Blau [Suisse] ; Ron Allan Wevers [Pays-Bas] ; Christoph-Burkhard Lucking [Allemagne] ; Jens Michael Hertz [Danemark] ; Lars Friberg [Danemark] ; Lisbeth Regeur [Danemark] ; J Rgen Erik Nielsen [Danemark] ; Sven Asger S Rensen [Danemark]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-05.
English descriptors
- KwdEn :
Abstract
We describe a patient with a combination of dystonic and parkinsonian signs. Paraclinical studies revealed a mutation in the GTP cyclohydrolase I gene (GCH1) and a decrease in [123I]‐N‐ω‐fluoropropyl‐2β‐carbomethoxy‐3β‐(4‐iodophenyl) nortropane (123I‐FP‐CIT) binding ratios indicative of Parkinson's disease. We conclude that the patient probably suffers from a variant of dopa‐responsive dystonia (DRD) or two separate movement disorders, normally considered to be differential diagnoses, DRD and early‐onset Parkinson's disease with resulting difficulties concerning treatment and prognosis. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20773
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003576
Links to Exploration step
ISTEX:A27C551E058A1B5235DD5E9A82E7F23A1EC0D05ALe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Dopa‐responsive dystonia and early‐onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?</title>
<author><name sortKey="Hjermind, Lena Elisabeth" sort="Hjermind, Lena Elisabeth" uniqKey="Hjermind L" first="Lena Elisabeth" last="Hjermind">Lena Elisabeth Hjermind</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Rigshospitalet, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Neurology, Rigshospitalet, Copenhagen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Johannsen, Lis Gitte" sort="Johannsen, Lis Gitte" uniqKey="Johannsen L" first="Lis Gitte" last="Johannsen">Lis Gitte Johannsen</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University Hospital of Odense, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Neurology, University Hospital of Odense</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Blau, Nenad" sort="Blau, Nenad" uniqKey="Blau N" first="Nenad" last="Blau">Nenad Blau</name>
<affiliation wicri:level="1"><mods:affiliation>Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland</mods:affiliation>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wevers, Ron Allan" sort="Wevers, Ron Allan" uniqKey="Wevers R" first="Ron Allan" last="Wevers">Ron Allan Wevers</name>
<affiliation wicri:level="1"><mods:affiliation>Laboratory of Pediatrics and Neurology, Institute of Neurology, University Hospital Nijmegen, the Netherlands</mods:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Laboratory of Pediatrics and Neurology, Institute of Neurology, University Hospital Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lucking, Christoph Urkhard" sort="Lucking, Christoph Urkhard" uniqKey="Lucking C" first="Christoph-Burkhard" last="Lucking">Christoph-Burkhard Lucking</name>
<affiliation wicri:level="1"><mods:affiliation>Neurological Clinic, Ludwig‐Maximilians‐Universitat Munchen (LMU), Munchen, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurological Clinic, Ludwig‐Maximilians‐Universitat Munchen (LMU), Munchen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hertz, Jens Michael" sort="Hertz, Jens Michael" uniqKey="Hertz J" first="Jens Michael" last="Hertz">Jens Michael Hertz</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, Aarhus University Hospital, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Genetics, Aarhus University Hospital</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Friberg, Lars" sort="Friberg, Lars" uniqKey="Friberg L" first="Lars" last="Friberg">Lars Friberg</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Clinical Physiology and Nuclear Medicine, Bispebjerg Hospital, University Hospital of Copenhagen, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Physiology and Nuclear Medicine, Bispebjerg Hospital, University Hospital of Copenhagen, Copenhagen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Regeur, Lisbeth" sort="Regeur, Lisbeth" uniqKey="Regeur L" first="Lisbeth" last="Regeur">Lisbeth Regeur</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Bispebjerg Hospital, University Hospital of Copenhagen, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Neurology, Bispebjerg Hospital, University Hospital of Copenhagen, Copenhagen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nielsen, J Rgen Erik" sort="Nielsen, J Rgen Erik" uniqKey="Nielsen J" first="J Rgen Erik" last="Nielsen">J Rgen Erik Nielsen</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Rigshospitalet, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Neurology, Rigshospitalet, Copenhagen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="S Rensen, Sven Asger" sort="S Rensen, Sven Asger" uniqKey="S Rensen S" first="Sven Asger" last="S Rensen">Sven Asger S Rensen</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:A27C551E058A1B5235DD5E9A82E7F23A1EC0D05A</idno>
<date when="2006" year="2006">2006</date>
<idno type="doi">10.1002/mds.20773</idno>
<idno type="url">https://api.istex.fr/document/A27C551E058A1B5235DD5E9A82E7F23A1EC0D05A/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003576</idno>
<idno type="wicri:Area/Istex/Curation">003576</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Dopa‐responsive dystonia and early‐onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?</title>
<author><name sortKey="Hjermind, Lena Elisabeth" sort="Hjermind, Lena Elisabeth" uniqKey="Hjermind L" first="Lena Elisabeth" last="Hjermind">Lena Elisabeth Hjermind</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Rigshospitalet, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Neurology, Rigshospitalet, Copenhagen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Johannsen, Lis Gitte" sort="Johannsen, Lis Gitte" uniqKey="Johannsen L" first="Lis Gitte" last="Johannsen">Lis Gitte Johannsen</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University Hospital of Odense, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Neurology, University Hospital of Odense</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Blau, Nenad" sort="Blau, Nenad" uniqKey="Blau N" first="Nenad" last="Blau">Nenad Blau</name>
<affiliation wicri:level="1"><mods:affiliation>Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland</mods:affiliation>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wevers, Ron Allan" sort="Wevers, Ron Allan" uniqKey="Wevers R" first="Ron Allan" last="Wevers">Ron Allan Wevers</name>
<affiliation wicri:level="1"><mods:affiliation>Laboratory of Pediatrics and Neurology, Institute of Neurology, University Hospital Nijmegen, the Netherlands</mods:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Laboratory of Pediatrics and Neurology, Institute of Neurology, University Hospital Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lucking, Christoph Urkhard" sort="Lucking, Christoph Urkhard" uniqKey="Lucking C" first="Christoph-Burkhard" last="Lucking">Christoph-Burkhard Lucking</name>
<affiliation wicri:level="1"><mods:affiliation>Neurological Clinic, Ludwig‐Maximilians‐Universitat Munchen (LMU), Munchen, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurological Clinic, Ludwig‐Maximilians‐Universitat Munchen (LMU), Munchen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hertz, Jens Michael" sort="Hertz, Jens Michael" uniqKey="Hertz J" first="Jens Michael" last="Hertz">Jens Michael Hertz</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, Aarhus University Hospital, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Genetics, Aarhus University Hospital</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Friberg, Lars" sort="Friberg, Lars" uniqKey="Friberg L" first="Lars" last="Friberg">Lars Friberg</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Clinical Physiology and Nuclear Medicine, Bispebjerg Hospital, University Hospital of Copenhagen, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Physiology and Nuclear Medicine, Bispebjerg Hospital, University Hospital of Copenhagen, Copenhagen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Regeur, Lisbeth" sort="Regeur, Lisbeth" uniqKey="Regeur L" first="Lisbeth" last="Regeur">Lisbeth Regeur</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Bispebjerg Hospital, University Hospital of Copenhagen, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Neurology, Bispebjerg Hospital, University Hospital of Copenhagen, Copenhagen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nielsen, J Rgen Erik" sort="Nielsen, J Rgen Erik" uniqKey="Nielsen J" first="J Rgen Erik" last="Nielsen">J Rgen Erik Nielsen</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Rigshospitalet, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Neurology, Rigshospitalet, Copenhagen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="S Rensen, Sven Asger" sort="S Rensen, Sven Asger" uniqKey="S Rensen S" first="Sven Asger" last="S Rensen">Sven Asger S Rensen</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen</wicri:regionArea>
</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="2006-05">2006-05</date>
<biblScope unit="vol">21</biblScope>
<biblScope unit="issue">5</biblScope>
<biblScope unit="page" from="679">679</biblScope>
<biblScope unit="page" to="682">682</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">A27C551E058A1B5235DD5E9A82E7F23A1EC0D05A</idno>
<idno type="DOI">10.1002/mds.20773</idno>
<idno type="ArticleID">MDS20773</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>123I‐FP‐CIT‐SPECT scan</term>
<term>GTP cyclohydrolase I gene</term>
<term>dopa‐responsive dystonia</term>
<term>early‐onset Parkinson's disease</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We describe a patient with a combination of dystonic and parkinsonian signs. Paraclinical studies revealed a mutation in the GTP cyclohydrolase I gene (GCH1) and a decrease in [123I]‐N‐ω‐fluoropropyl‐2β‐carbomethoxy‐3β‐(4‐iodophenyl) nortropane (123I‐FP‐CIT) binding ratios indicative of Parkinson's disease. We conclude that the patient probably suffers from a variant of dopa‐responsive dystonia (DRD) or two separate movement disorders, normally considered to be differential diagnoses, DRD and early‐onset Parkinson's disease with resulting difficulties concerning treatment and prognosis. © 2005 Movement Disorder Society</div>
</front>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003576 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 003576 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Istex |étape= Curation |type= RBID |clé= ISTEX:A27C551E058A1B5235DD5E9A82E7F23A1EC0D05A |texte= Dopa‐responsive dystonia and early‐onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? }}
![]() | This area was generated with Dilib version V0.6.23. | ![]() |