Movement Disorders (revue)

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

Identifieur interne : 000D62 ( PascalFrancis/Checkpoint ); précédent : 000D61; suivant : 000D63

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 :

RBID : Pascal:09-0358935

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English descriptors

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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Pascal:09-0358935

Le document en format XML

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<term>Gaucher disease</term>
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<term>Parkinsonism</term>
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<keywords scheme="Pascal" xml:lang="fr">
<term>Parkinsonisme</term>
<term>Sphingolipidose héréditaire de Gaucher</term>
<term>Maladie de Parkinson</term>
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<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>
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<s1>REMENIERAS (Liliane)</s1>
</fA11>
<fA11 i1="10" i2="1">
<s1>SCHÜPBACH (Michäl)</s1>
</fA11>
<fA11 i1="11" i2="1">
<s1>BELMATOUG (Nadia)</s1>
</fA11>
<fA11 i1="12" i2="1">
<s1>VIDAILHET (Marie)</s1>
</fA11>
<fA11 i1="13" i2="1">
<s1>SEDEL (Frédéric)</s1>
</fA11>
<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>
</fA14>
<fA14 i1="02">
<s1>Department of Internal Medicine, Jean Verdier Hospital, Assistance Publique-Hôpitaux de Paris, Paris XIII University</s1>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="03">
<s1>Service Hospitalier Frédéric Joliot, I2BM, DSV, CEA</s1>
<s2>Orsay</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="04">
<s1>Department of Neurology, University Hospital of Rennes</s1>
<s2>Rennes</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="05">
<s1>Department of Neurology, University Hospital of Lille</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="06">
<s1>Department of Onco-Haematology, Saint Vincent de Paul Hospital</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="07">
<s1>Department of Haematology, University Hospitals of Limoges</s1>
<s2>Limoges</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="08">
<s1>Department of Internal Medicine, Reference Center for Lysosomal Diseases, Beaujon Hospital, Assistance Publique-Hôpitaux de Paris</s1>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="09">
<s1>INSERM U679, Pierre et Marie Curie (Paris 6) University</s1>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
</fA14>
<fA20>
<s1>1524-1530</s1>
</fA20>
<fA21>
<s1>2009</s1>
</fA21>
<fA23 i1="01">
<s0>ENG</s0>
</fA23>
<fA43 i1="01">
<s1>INIST</s1>
<s2>20953</s2>
<s5>354000187543670150</s5>
</fA43>
<fA44>
<s0>0000</s0>
<s1>© 2009 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45>
<s0>32 ref.</s0>
</fA45>
<fA47 i1="01" i2="1">
<s0>09-0358935</s0>
</fA47>
<fA60>
<s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61>
<s0>A</s0>
</fA61>
<fA64 i1="01" i2="1">
<s0>Movement disorders</s0>
</fA64>
<fA66 i1="01">
<s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG">
<s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X">
<s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X">
<s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE">
<s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG">
<s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA">
<s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE">
<s0>Sphingolipidose héréditaire de Gaucher</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG">
<s0>Gaucher disease</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA">
<s0>Esfingolipidosis hereditaria Gaucher</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE">
<s0>Maladie de Parkinson</s0>
<s2>NM</s2>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG">
<s0>Parkinson disease</s0>
<s2>NM</s2>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA">
<s0>Parkinson enfermedad</s0>
<s2>NM</s2>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE">
<s0>Démence à corps de Lewy</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG">
<s0>Lewy body dementia</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA">
<s0>Demencia cuerpos Lewy</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE">
<s0>Pathologie du système nerveux</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG">
<s0>Nervous system diseases</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA">
<s0>Sistema nervioso patología</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE">
<s0>Lipide</s0>
<s5>78</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG">
<s0>Lipids</s0>
<s5>78</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA">
<s0>Lípido</s0>
<s5>78</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE">
<s0>Pathologie de l'encéphale</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Cerebral disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Encéfalo patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE">
<s0>Enzymopathie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG">
<s0>Enzymopathy</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
<s0>Enzimopatía</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE">
<s0>Lipoïdose</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG">
<s0>Lipoidosis</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA">
<s0>Lipoidosis</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE">
<s0>Maladie héréditaire</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG">
<s0>Genetic disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA">
<s0>Enfermedad hereditaria</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE">
<s0>Maladie métabolique</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG">
<s0>Metabolic diseases</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA">
<s0>Metabolismo patología</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE">
<s0>Pathologie du système nerveux central</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG">
<s0>Central nervous system disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA">
<s0>Sistema nervosio central patología</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE">
<s0>Syndrome extrapyramidal</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG">
<s0>Extrapyramidal syndrome</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA">
<s0>Extrapiramidal síndrome</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE">
<s0>Maladie dégénérative</s0>
<s5>45</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG">
<s0>Degenerative disease</s0>
<s5>45</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA">
<s0>Enfermedad degenerativa</s0>
<s5>45</s5>
</fC07>
<fN21>
<s1>257</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<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>
</country>
</tree>
</affiliations>
</record>

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