Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature.
Identifieur interne : 001C78 ( PubMed/Curation ); précédent : 001C77; suivant : 001C79Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature.
Auteurs : Ichraf Kraoua [France] ; 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 : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Adult, Aged, Diagnostic Imaging, Gaucher Disease (classification), Gaucher Disease (complications), Gaucher Disease (genetics), Gaucher Disease (pathology), Glucosylceramidase (genetics), Glucosylceramidase (metabolism), Humans, Male, Middle Aged, Parkinsonian Disorders (etiology), Parkinsonian Disorders (genetics), Parkinsonian Disorders (pathology), Parkinsonian Disorders (therapy).
- MESH :
- chemical , genetics : Glucosylceramidase.
- classification : Gaucher Disease.
- complications : Gaucher Disease.
- etiology : Parkinsonian Disorders.
- genetics : Gaucher Disease, Parkinsonian Disorders.
- chemical , metabolism : Glucosylceramidase.
- pathology : Gaucher Disease, Parkinsonian Disorders.
- therapy : Parkinsonian Disorders.
- Adult, Aged, Diagnostic Imaging, Humans, Male, Middle Aged.
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.
DOI: 10.1002/mds.22593
PubMed: 19513999
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first="Tiphaine" last="Rouaud">Tiphaine Rouaud</name></author><author><name sortKey="Verin, Marc" sort="Verin, Marc" uniqKey="Verin M" first="Marc" last="Verin">Marc Verin</name></author><author><name sortKey="Annic, Agnes" sort="Annic, Agnes" uniqKey="Annic A" first="Agnès" last="Annic">Agnès Annic</name></author><author><name sortKey="Rose, Christian" sort="Rose, Christian" uniqKey="Rose C" first="Christian" last="Rose">Christian Rose</name></author><author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name></author><author><name sortKey="Remenieras, Liliane" sort="Remenieras, Liliane" uniqKey="Remenieras L" first="Liliane" last="Réménieras">Liliane Réménieras</name></author><author><name sortKey="Schupbach, Michael" sort="Schupbach, Michael" uniqKey="Schupbach M" first="Michaël" last="Schüpbach">Michaël Schüpbach</name></author><author><name sortKey="Belmatoug, Nadia" sort="Belmatoug, Nadia" uniqKey="Belmatoug N" first="Nadia" last="Belmatoug">Nadia Belmatoug</name></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></author><author><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Diagnostic Imaging</term><term>Gaucher Disease (classification)</term><term>Gaucher Disease (complications)</term><term>Gaucher Disease (genetics)</term><term>Gaucher Disease (pathology)</term><term>Glucosylceramidase (genetics)</term><term>Glucosylceramidase 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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. 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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.</AbstractText><CopyrightInformation>Copyright 2009 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kraoua</LastName><ForeName>Ichraf</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stirnemann</LastName><ForeName>Jérôme</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Ribeiro</LastName><ForeName>Maria João</ForeName><Initials>MJ</Initials></Author><Author ValidYN="Y"><LastName>Rouaud</LastName><ForeName>Tiphaine</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Verin</LastName><ForeName>Marc</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Annic</LastName><ForeName>Agnès</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Rose</LastName><ForeName>Christian</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Defebvre</LastName><ForeName>Luc</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Réménieras</LastName><ForeName>Liliane</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Schüpbach</LastName><ForeName>Michaël</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Belmatoug</LastName><ForeName>Nadia</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Vidailhet</LastName><ForeName>Marie</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Sedel</LastName><ForeName>Frédéric</ForeName><Initials>F</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 3.2.1.45</RegistryNumber><NameOfSubstance UI="D005962">Glucosylceramidase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003952">Diagnostic Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005776">Gaucher Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000145">classification</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005962">Glucosylceramidase</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000209">etiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000628">therapy</QualifierName></MeshHeading></MeshHeadingList><NumberOfReferences>32</NumberOfReferences></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2009</Year><Month>6</Month><Day>11</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2009</Year><Month>6</Month><Day>11</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>10</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22593</ArticleId><ArticleId IdType="pubmed">19513999</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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