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.
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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
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DOI: 10.1002/mds.20773
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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 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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)
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