Parkinsonism in Gaucher's disease type 1: Ten new cases and a review of the literature
Identifieur interne : 001511 ( Istex/Corpus ); précédent : 001510; suivant : 001512Parkinsonism in Gaucher's disease type 1: Ten new cases and a review of the literature
Auteurs : Ichraf Kraoua ; Jérôme Stirnemann ; Maria João Ribeiro ; Tiphaine Rouaud ; Marc Verin ; Agnès Annic ; Christian Rose ; Luc Defebvre ; Liliane Réménieras ; Michaël Schüpbach ; Nadia Belmatoug ; Marie Vidailhet ; Frédéric SedelSource :
- Movement Disorders [ 0885-3185 ] ; 2009-07-30.
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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. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22593
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France</mods:affiliation></affiliation></author><author><name sortKey="Rouaud, Tiphaine" sort="Rouaud, Tiphaine" uniqKey="Rouaud T" first="Tiphaine" last="Rouaud">Tiphaine Rouaud</name><affiliation><mods:affiliation>Department of Neurology, University Hospital of Rennes, Rennes, France</mods:affiliation></affiliation></author><author><name sortKey="Verin, Marc" sort="Verin, Marc" uniqKey="Verin M" first="Marc" last="Verin">Marc Verin</name><affiliation><mods:affiliation>Department of Neurology, University Hospital of Rennes, Rennes, France</mods:affiliation></affiliation></author><author><name sortKey="Annic, Agnes" sort="Annic, Agnes" uniqKey="Annic A" first="Agnès" last="Annic">Agnès Annic</name><affiliation><mods:affiliation>Department of Neurology, University Hospital of Lille, Lille, France</mods:affiliation></affiliation></author><author><name sortKey="Rose, Christian" sort="Rose, Christian" uniqKey="Rose C" first="Christian" last="Rose">Christian 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Hospital, Assistance Publique‐Hôpitaux de Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Belmatoug, Nadia" sort="Belmatoug, Nadia" uniqKey="Belmatoug N" first="Nadia" last="Belmatoug">Nadia Belmatoug</name><affiliation><mods:affiliation>Department of Internal Medicine, Reference Center for Lysosomal Diseases, Beaujon Hospital, Assistance Publique‐Hôpitaux de Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><affiliation><mods:affiliation>Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique‐Hôpitaux de Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>INSERM U679, Pierre et Marie Curie (Paris 6) University, France</mods:affiliation></affiliation></author><author><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name><affiliation><mods:affiliation>Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique‐Hôpitaux de Paris, France</mods:affiliation></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. 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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. © 2009 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Ichraf Kraoua MD</name><affiliations><json:string>Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique‐Hôpitaux de Paris, France</json:string></affiliations></json:item><json:item><name>Jérôme Stirnemann MD</name><affiliations><json:string>Department of Internal Medicine, Jean Verdier Hospital, Assistance Publique‐Hôpitaux de Paris, Paris X111 University, France</json:string></affiliations></json:item><json:item><name>Maria João Ribeiro MD, PhD</name><affiliations><json:string>Service Hospitalier Frédéric Joliot, I2BM, DSV, CEA, Orsay, France</json:string></affiliations></json:item><json:item><name>Tiphaine Rouaud MD</name><affiliations><json:string>Department of Neurology, University Hospital of Rennes, Rennes, France</json:string></affiliations></json:item><json:item><name>Marc Verin MD, PhD</name><affiliations><json:string>Department of Neurology, University Hospital of Rennes, Rennes, France</json:string></affiliations></json:item><json:item><name>Agnès Annic MD</name><affiliations><json:string>Department of Neurology, University Hospital of Lille, Lille, France</json:string></affiliations></json:item><json:item><name>Christian Rose MD, PhD</name><affiliations><json:string>Department of Onco‐Haematology, Saint Vincent de Paul Hospital, Lille, France</json:string></affiliations></json:item><json:item><name>Luc Defebvre MD, PhD</name><affiliations><json:string>Department of Neurology, University Hospital of Lille, Lille, France</json:string></affiliations></json:item><json:item><name>Liliane Réménieras MD</name><affiliations><json:string>Department of Haematology, University Hospitals of Limoges, Limoges, France</json:string></affiliations></json:item><json:item><name>Michaël Schüpbach MD</name><affiliations><json:string>Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique‐Hôpitaux de Paris, France</json:string></affiliations></json:item><json:item><name>Nadia Belmatoug MD</name><affiliations><json:string>Department of Internal Medicine, Reference Center for Lysosomal Diseases, Beaujon Hospital, Assistance Publique‐Hôpitaux de Paris, France</json:string></affiliations></json:item><json:item><name>Marie Vidailhet MD</name><affiliations><json:string>Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique‐Hôpitaux de Paris, France</json:string><json:string>INSERM U679, Pierre et Marie Curie (Paris 6) University, France</json:string></affiliations></json:item><json:item><name>Frédéric Sedel MD, PhD</name><affiliations><json:string>Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique‐Hôpitaux de Paris, France</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Gaucher</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>glucocerebrosidase</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>parkinsonism</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Lewy body dementia</value></json:item></subject><language><json:string>eng</json:string></language><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. 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France</affiliation></author><author><persName><forename type="first">Jérôme</forename><surname>Stirnemann</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Internal Medicine, Jean Verdier Hospital, Assistance Publique‐Hôpitaux de Paris, Paris X111 University, France</affiliation></author><author><persName><forename type="first">Maria João</forename><surname>Ribeiro</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Service Hospitalier Frédéric Joliot, I2BM, DSV, CEA, Orsay, France</affiliation></author><author><persName><forename type="first">Tiphaine</forename><surname>Rouaud</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, University Hospital of Rennes, Rennes, France</affiliation></author><author><persName><forename type="first">Marc</forename><surname>Verin</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, University Hospital of 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Marie Curie (Paris 6) University, France</affiliation></author><author><persName><forename type="first">Frédéric</forename><surname>Sedel</surname><roleName type="degree">MD, PhD</roleName></persName><note type="correspondence"><p>Correspondence: Federation of Nervous System Diseases and Reference Centre for Lysosomal Diseases, Salpêtrière Hospital, 47 Boulevard de l'Hôpital, 75651 Paris cedex 13, France</p></note><affiliation>Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique‐Hôpitaux de Paris, France</affiliation></author></analytic><monogr><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. 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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. © 2009 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Gaucher</term></item><item><term>glucocerebrosidase</term></item><item><term>parkinsonism</term></item><item><term>Parkinson's disease</term></item><item><term>Lewy body dementia</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2009-02-09">Received</change><change when="2009-03-17">Registration</change><change when="2009-07-30">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/360462BF516DD7E262DF02D66D33380B5B50CF2D/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. 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href="file:MDS.MDS22593.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="3"></count><count type="referenceTotal" number="32"></count><count type="wordTotal" number="6897"></count></countGroup><titleGroup><title type="main" xml:lang="en">Parkinsonism in Gaucher's disease type 1: Ten new cases and a review of the literature<link href="#fn2"></link></title><title type="short" xml:lang="en">Parkinsonism in Gaucher's Disease Type 1</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Ichraf</givenNames><familyName>Kraoua</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Jérôme</givenNames><familyName>Stirnemann</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Maria João</givenNames><familyName>Ribeiro</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Tiphaine</givenNames><familyName>Rouaud</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Marc</givenNames><familyName>Verin</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Agnès</givenNames><familyName>Annic</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Christian</givenNames><familyName>Rose</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Luc</givenNames><familyName>Defebvre</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Liliane</givenNames><familyName>Réménieras</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Michaël</givenNames><familyName>Schüpbach</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af8"><personName><givenNames>Nadia</givenNames><familyName>Belmatoug</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af1 #af9"><personName><givenNames>Marie</givenNames><familyName>Vidailhet</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Frédéric</givenNames><familyName>Sedel</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>frederic.sedel@psl.aphp.fr</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="FR" type="organization"><unparsedAffiliation>Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique‐Hôpitaux de Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="FR" type="organization"><unparsedAffiliation>Department of Internal Medicine, Jean Verdier Hospital, Assistance Publique‐Hôpitaux de Paris, Paris X111 University, France</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="FR" type="organization"><unparsedAffiliation>Service Hospitalier Frédéric Joliot, I2BM, DSV, CEA, Orsay, France</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="FR" type="organization"><unparsedAffiliation>Department of Neurology, University Hospital of Rennes, Rennes, France</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="FR" type="organization"><unparsedAffiliation>Department of Neurology, University Hospital of Lille, Lille, France</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="FR" type="organization"><unparsedAffiliation>Department of Onco‐Haematology, Saint Vincent de Paul Hospital, Lille, France</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="FR" type="organization"><unparsedAffiliation>Department of Haematology, University Hospitals of Limoges, Limoges, France</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="FR" type="organization"><unparsedAffiliation>Department of Internal Medicine, Reference Center for Lysosomal Diseases, Beaujon Hospital, Assistance Publique‐Hôpitaux de Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af9" countryCode="FR" type="organization"><unparsedAffiliation>INSERM U679, Pierre et Marie Curie (Paris 6) University, France</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Gaucher</keyword><keyword xml:id="kwd2">glucocerebrosidase</keyword><keyword xml:id="kwd3">parkinsonism</keyword><keyword xml:id="kwd4">Parkinson's disease</keyword><keyword xml:id="kwd5">Lewy body dementia</keyword></keywordGroup><fundingInfo><fundingAgency>Genzyme</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>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. © 2009 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn2"><p>Potential conflict of interest: None reported.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Parkinsonism in Gaucher's disease type 1: Ten new cases and a review of the literature</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Parkinsonism in Gaucher's Disease Type 1</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Parkinsonism in Gaucher's disease type 1: Ten new cases and a review of the literature</title></titleInfo><name type="personal"><namePart type="given">Ichraf</namePart><namePart type="family">Kraoua</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique‐Hôpitaux de Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jérôme</namePart><namePart type="family">Stirnemann</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Internal Medicine, Jean Verdier Hospital, Assistance Publique‐Hôpitaux de Paris, Paris X111 University, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maria João</namePart><namePart type="family">Ribeiro</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Service Hospitalier Frédéric Joliot, I2BM, DSV, CEA, Orsay, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tiphaine</namePart><namePart type="family">Rouaud</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University Hospital of Rennes, Rennes, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marc</namePart><namePart type="family">Verin</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, University Hospital of Rennes, Rennes, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Agnès</namePart><namePart type="family">Annic</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University Hospital of Lille, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christian</namePart><namePart type="family">Rose</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Onco‐Haematology, Saint Vincent de Paul Hospital, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Luc</namePart><namePart type="family">Defebvre</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, University Hospital of Lille, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Liliane</namePart><namePart type="family">Réménieras</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Haematology, University Hospitals of Limoges, Limoges, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michaël</namePart><namePart type="family">Schüpbach</namePart><namePart 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Marie Curie (Paris 6) University, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Frédéric</namePart><namePart type="family">Sedel</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique‐Hôpitaux de Paris, France</affiliation><description>Correspondence: Federation of Nervous System Diseases and Reference Centre for Lysosomal Diseases, Salpêtrière Hospital, 47 Boulevard de l'Hôpital, 75651 Paris cedex 13, France</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2009-07-30</dateIssued><dateCaptured encoding="w3cdtf">2009-02-09</dateCaptured><dateValid encoding="w3cdtf">2009-03-17</dateValid><copyrightDate encoding="w3cdtf">2009</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">3</extent><extent unit="references">32</extent><extent unit="words">6897</extent></physicalDescription><abstract 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. © 2009 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: None reported.</note><note type="funding">Genzyme</note><subject lang="en"><genre>Keywords</genre><topic>Gaucher</topic><topic>glucocerebrosidase</topic><topic>parkinsonism</topic><topic>Parkinson's disease</topic><topic>Lewy body dementia</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. 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