Gaucher disease associated with parkinsonism: Four further case reports
Identifieur interne : 001326 ( Main/Corpus ); précédent : 001325; suivant : 001327Gaucher disease associated with parkinsonism: Four further case reports
Auteurs : Judit Várkonyi ; Hanna Rosenbaum ; Nicole Baumann ; Jennifer J. Mackenzie ; Zsuzsa Simon ; Judith Aharon-Peretz ; Jamie M. Walker ; Nahid Tayebi ; Ellen SidranskySource :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2003-02-01.
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Abstract
Type 1 Gaucher disease is considered the non‐neuronopathic form of this autosomal recessively inherited lysosomal storage disease. We report the simultaneous occurrence of Gaucher disease with parkinsonian in four adult patients. The patients had a relatively early onset of parkinsonian manifestations, and their disease was rapidly progressive and refractory to therapy. Each had a different Gaucher genotype, although four alleles carried the common N370S mutation. No mutations were identified in the genes for parkin or α‐synuclein. The concurrence of these two phenotypes, both in this series of patients and in others in the literature, suggests a shared pathway, modifier, or other genetic etiology. Published 2003 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.a.10028
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ISTEX:B9C788CA558B22B0A8DA8F4A22FB858D7C9C6D5DLe document en format XML
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We report the simultaneous occurrence of Gaucher disease with parkinsonian in four adult patients. The patients had a relatively early onset of parkinsonian manifestations, and their disease was rapidly progressive and refractory to therapy. Each had a different Gaucher genotype, although four alleles carried the common N370S mutation. No mutations were identified in the genes for parkin or α‐synuclein. The concurrence of these two phenotypes, both in this series of patients and in others in the literature, suggests a shared pathway, modifier, or other genetic etiology. 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xml:lang="en"><title type="main">Abstract</title><p>Type 1 Gaucher disease is considered the non‐neuronopathic form of this autosomal recessively inherited lysosomal storage disease. We report the simultaneous occurrence of Gaucher disease with parkinsonian in four adult patients. The patients had a relatively early onset of parkinsonian manifestations, and their disease was rapidly progressive and refractory to therapy. Each had a different Gaucher genotype, although four alleles carried the common N370S mutation. No mutations were identified in the genes for parkin or α‐synuclein. The concurrence of these two phenotypes, both in this series of patients and in others in the literature, suggests a shared pathway, modifier, or other genetic etiology. Published 2003 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>This article was prepared by a group consisting of U.S. Government employees and non‐U.S. Government employees, and as such is subject to U.S.C. Sec. 105.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Gaucher disease associated with parkinsonism: Four further case reports</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Gaucher Disease and Parkinsonism</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Gaucher disease associated with parkinsonism: Four further case reports</title></titleInfo><name type="personal"><namePart type="given">Judit</namePart><namePart type="family">Várkonyi</namePart><affiliation>3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hanna</namePart><namePart type="family">Rosenbaum</namePart><affiliation>Department of Hematology, Rambam Medical Center and Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nicole</namePart><namePart type="family">Baumann</namePart><affiliation>Laboratory of Neurochemistry, Salpêtrière Hospital, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jennifer J.</namePart><namePart type="family">MacKenzie</namePart><affiliation>Division of Genetic and Molecular Medicine, Queens University, Kingston, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Zsuzsa</namePart><namePart type="family">Simon</namePart><affiliation>National Institute of Neurology and Psychiatry, Budapest, Hungary</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Judith</namePart><namePart type="family">Aharon‐Peretz</namePart><affiliation>Department of Neurology, Rambam Medical Center, Haifa, Israel</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jamie M.</namePart><namePart type="family">Walker</namePart><affiliation>Section on Molecular Neurogenetics, National Institute of Mental Health, NIH, Bethesda, Maryland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nahid</namePart><namePart type="family">Tayebi</namePart><affiliation>Section on Molecular Neurogenetics, National Institute of Mental Health, NIH, Bethesda, Maryland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ellen</namePart><namePart type="family">Sidransky</namePart><affiliation>Section on Molecular Neurogenetics, National Institute of Mental Health, NIH, Bethesda, Maryland</affiliation><description>Correspondence: Section on Molecular Neurogenetics, 49 Convent Drive MSC 4405, 49/B1EE16, Bethesda, MD 20892‐4405.</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">2003-02-01</dateIssued><dateCaptured encoding="w3cdtf">2002-04-22</dateCaptured><dateValid encoding="w3cdtf">2002-08-02</dateValid><copyrightDate encoding="w3cdtf">2003</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="tables">1</extent><extent unit="references">19</extent><extent unit="words">2656</extent></physicalDescription><abstract lang="en">Type 1 Gaucher disease is considered the non‐neuronopathic form of this autosomal recessively inherited lysosomal storage disease. We report the simultaneous occurrence of Gaucher disease with parkinsonian in four adult patients. The patients had a relatively early onset of parkinsonian manifestations, and their disease was rapidly progressive and refractory to therapy. Each had a different Gaucher genotype, although four alleles carried the common N370S mutation. No mutations were identified in the genes for parkin or α‐synuclein. The concurrence of these two phenotypes, both in this series of patients and in others in the literature, suggests a shared pathway, modifier, or other genetic etiology. Published 2003 Wiley‐Liss, Inc.</abstract><note type="content">*This article was prepared by a group consisting of U.S. Government employees and non‐U.S. Government employees, and as such is subject to U.S.C. Sec. 105.</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson disease</topic><topic>glucocerebrosidase</topic><topic>enzyme replacement therapy</topic><topic>genotype/phenotype correlation</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics Part A</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">1552-4825</identifier><identifier type="eISSN">1552-4833</identifier><identifier type="DOI">10.1002/(ISSN)1552-4833</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2003</date><detail type="volume"><caption>vol.</caption><number>116A</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>348</start><end>351</end><total>4</total></extent></part></relatedItem><identifier type="istex">B9C788CA558B22B0A8DA8F4A22FB858D7C9C6D5D</identifier><identifier type="DOI">10.1002/ajmg.a.10028</identifier><identifier type="ArticleID">AJMG10028</identifier><accessCondition type="use and reproduction" contentType="copyright">Published 2003 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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