MovDisordV3, Main, Merge, bibRecord, 002E59

Parkinsonism in Gaucher's Disease Type 1: Ten New Cases and a Review of the Literature

Identifieur interne : 002E59 ( Main/Merge ); précédent : 002E58; suivant : 002E60

Parkinsonism in Gaucher's Disease Type 1: Ten New Cases and a Review of the Literature

Auteurs : Ichraf Kraoua [France] ; Jérôme Stimemann [France] ; Maria Joao Ribeiro [France] ; Tiphaine Rouaud [France] ; Marc Verin [France] ; Agnès Annic [France] ; Christian Rose [France] ; Luc Defebvre [France] ; Liliane Remenieras [France] ; Mich L Schüpbach [France] ; Nadia Belmatoug [France] ; Marie Vidailhet [France] ; Frédéric Sedel [France]

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:09-0358935

Descripteurs français

Pascal (Inist)
- Parkinsonisme, Sphingolipidose héréditaire de Gaucher, Maladie de Parkinson, Démence à corps de Lewy, Pathologie du système nerveux, Lipide.

English descriptors

KwdEn :
- Gaucher disease, Lewy body dementia, Lipids, Nervous system diseases, Parkinson disease, Parkinsonism.

Abstract

Parkinsonism has been described in patients with Gaucher's disease (GD). We reviewed the 10 cases of patients with both parkinsonism and GD recorded in the French national GD registry, as well as 49 previously published cases. Relative to the general population, parkinsonism in GD patients (1) was more frequent, (2) occurred at an earlier age, (3) responded less well to levodopa, and (4) was more frequently associated with signs of cortical dysfunction. Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) were ineffective on GD-associated parkinsonism, suggesting that parkinsonism itself is not an indication for ERT or SRT in this setting.

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Parkinsonism in Gaucher's Disease Type 1: Ten New Cases and a Review of the Literature</title>
<author><name sortKey="Kraoua, Ichraf" sort="Kraoua, Ichraf" uniqKey="Kraoua I" first="Ichraf" last="Kraoua">Ichraf Kraoua</name>
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Assistance Publique-Hôpitaux de Paris</s1>
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<author><name sortKey="Ribeiro, Maria Joao" sort="Ribeiro, Maria Joao" uniqKey="Ribeiro M" first="Maria Joao" last="Ribeiro">Maria Joao Ribeiro</name>
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<author><name sortKey="Rose, Christian" sort="Rose, Christian" uniqKey="Rose C" first="Christian" last="Rose">Christian Rose</name>
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<author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name>
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<author><name sortKey="Remenieras, Liliane" sort="Remenieras, Liliane" uniqKey="Remenieras L" first="Liliane" last="Remenieras">Liliane Remenieras</name>
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<s3>FRA</s3>
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<author><name sortKey="Schupbach, Mich L" sort="Schupbach, Mich L" uniqKey="Schupbach M" first="Mich L" last="Schüpbach">Mich L Schüpbach</name>
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Assistance Publique-Hôpitaux de Paris</s1>
<s3>FRA</s3>
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</author>
<author><name sortKey="Belmatoug, Nadia" sort="Belmatoug, Nadia" uniqKey="Belmatoug N" first="Nadia" last="Belmatoug">Nadia Belmatoug</name>
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<s3>FRA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>Assistance Publique-Hôpitaux de Paris</wicri:noRegion>
<wicri:noRegion>Department of Internal Medicine, Reference Center for Lysosomal Diseases, Beaujon Hospital, Assistance Publique-Hôpitaux de Paris</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
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Assistance Publique-Hôpitaux de Paris</s1>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
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</affiliation>
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<s3>FRA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>Pierre et Marie Curie (Paris 6) University</wicri:noRegion>
<wicri:noRegion>INSERM U679, Pierre et Marie Curie (Paris 6) University</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, <sup>2 </sup>
Assistance Publique-Hôpitaux de Paris</s1>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
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</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2009">2009</date>
</imprint>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gaucher disease</term>
<term>Lewy body dementia</term>
<term>Lipids</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Parkinsonism</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term>
<term>Sphingolipidose héréditaire de Gaucher</term>
<term>Maladie de Parkinson</term>
<term>Démence à corps de Lewy</term>
<term>Pathologie du   système nerveux</term>
<term>Lipide</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Parkinsonism has been described in patients with Gaucher's disease (GD). We reviewed the 10 cases of patients with both parkinsonism and GD recorded in the French national GD registry, as well as 49 previously published cases. Relative to the general population, parkinsonism in GD patients (1) was more frequent, (2) occurred at an earlier age, (3) responded less well to levodopa, and (4) was more frequently associated with signs of cortical dysfunction. Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) were ineffective on GD-associated parkinsonism, suggesting that parkinsonism itself is not an indication for ERT or SRT in this setting.</div>
</front>
</TEI>
<affiliations><list><country><li>France</li>
</country>
<region><li>Nord-Pas-de-Calais</li>
<li>Île-de-France</li>
</region>
<settlement><li>Lille</li>
<li>Limoges</li>
<li>Orsay</li>
<li>Rennes</li>
</settlement>
<orgName><li>Université Lille 2</li>
<li>Université Lille Nord de France</li>
</orgName>
</list>
<tree><country name="France"><noRegion><name sortKey="Kraoua, Ichraf" sort="Kraoua, Ichraf" uniqKey="Kraoua I" first="Ichraf" last="Kraoua">Ichraf Kraoua</name>
</noRegion>
<name sortKey="Annic, Agnes" sort="Annic, Agnes" uniqKey="Annic A" first="Agnès" last="Annic">Agnès Annic</name>
<name sortKey="Belmatoug, Nadia" sort="Belmatoug, Nadia" uniqKey="Belmatoug N" first="Nadia" last="Belmatoug">Nadia Belmatoug</name>
<name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name>
<name sortKey="Remenieras, Liliane" sort="Remenieras, Liliane" uniqKey="Remenieras L" first="Liliane" last="Remenieras">Liliane Remenieras</name>
<name sortKey="Ribeiro, Maria Joao" sort="Ribeiro, Maria Joao" uniqKey="Ribeiro M" first="Maria Joao" last="Ribeiro">Maria Joao Ribeiro</name>
<name sortKey="Rose, Christian" sort="Rose, Christian" uniqKey="Rose C" first="Christian" last="Rose">Christian Rose</name>
<name sortKey="Rouaud, Tiphaine" sort="Rouaud, Tiphaine" uniqKey="Rouaud T" first="Tiphaine" last="Rouaud">Tiphaine Rouaud</name>
<name sortKey="Schupbach, Mich L" sort="Schupbach, Mich L" uniqKey="Schupbach M" first="Mich L" last="Schüpbach">Mich L Schüpbach</name>
<name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name>
<name sortKey="Stimemann, Jerome" sort="Stimemann, Jerome" uniqKey="Stimemann J" first="Jérôme" last="Stimemann">Jérôme Stimemann</name>
<name sortKey="Verin, Marc" sort="Verin, Marc" uniqKey="Verin M" first="Marc" last="Verin">Marc Verin</name>
<name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
<name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Parkinsonism in Gaucher's Disease Type 1: Ten New Cases and a Review of the Literature

Parkinsonism in Gaucher's Disease Type 1: Ten New Cases and a Review of the Literature

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