Occurrence of Parkinson's syndrome in type 1 Gaucher disease
Identifieur interne : 001633 ( Main/Corpus ); précédent : 001632; suivant : 001634Occurrence of Parkinson's syndrome in type 1 Gaucher disease
Auteurs : O. Neudorfer ; N. Giladi ; D. Elstein ; A. Abrahamov ; T. Turezkite ; E. Aghai ; A. Reches ; B. Bembi ; A. ZimranSource :
- QJM: An International Journal of Medicine [ 1460-2725 ] ; 1996-09.
Abstract
Gaucher disease, the most prevalent glycolipid storage disorder, is classically subdivided into types according to the presence or absence of neurological involvement. Type I has hitherto been considered non-neuronopathic. We present six cases and a review of the literature of Parkinsonian symptoms in type I Gaucher disease patients. The hallmark of this atypical Parkinsonian syndrome is a relatively severe clinical course with early appearance of neurological signs in the 4th to 6th decade of life, aggressive progression of the signs and refractoriness to conventional anti-Parkinson therapy. We discuss the implications of these findings in the light of enzyme replacement therapy for Gaucher disease.
Url:
DOI: 10.1093/qjmed/89.9.691
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Zimran</name><affiliation><mods:affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">QJM: An International Journal of Medicine</title><idno type="ISSN">1460-2725</idno><idno type="eISSN">1460-2393</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="1996-09">1996-09</date><biblScope unit="volume">89</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="691">691</biblScope><biblScope unit="page" to="694">694</biblScope></imprint><idno type="ISSN">1460-2725</idno></series><idno type="istex">5EA0990D1A3E38D37B9B4A1B2E3B8629A2C84CA7</idno><idno type="DOI">10.1093/qjmed/89.9.691</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1460-2725</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Gaucher disease, the most prevalent glycolipid storage disorder, is classically subdivided into types according to the presence or absence of neurological involvement. Type I has hitherto been considered non-neuronopathic. We present six cases and a review of the literature of Parkinsonian symptoms in type I Gaucher disease patients. The hallmark of this atypical Parkinsonian syndrome is a relatively severe clinical course with early appearance of neurological signs in the 4th to 6th decade of life, aggressive progression of the signs and refractoriness to conventional anti-Parkinson therapy. We discuss the implications of these findings in the light of enzyme replacement therapy for Gaucher disease.</div></front></TEI><istex><corpusName>oup</corpusName><author><json:item><name>O. Neudorfer</name><affiliations><json:string>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</json:string></affiliations></json:item><json:item><name>N. 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Aghai</name><affiliations><json:string>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</json:string><json:string>Institute of Hematology, Carmel Hospital Haifa, Israel</json:string></affiliations></json:item><json:item><name>A. Reches</name><affiliations><json:string>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</json:string><json:string>Department of Neurology, Hadassah University Hospital Ein-Karem, Israel</json:string></affiliations></json:item><json:item><name>B. Bembi</name><affiliations><json:string>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</json:string><json:string>Instituto per l'Infanzia, ‘Burlo Garofolo’ Trieste, Italy</json:string></affiliations></json:item><json:item><name>A. Zimran</name><affiliations><json:string>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</json:string><json:string>Address correspondence to Dr Ari Zimran, Gaucher Clinic, Shaare Zedek Medical Center, PO Box 3235, Jerusalem 91031, Israel</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Original Papers</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Gaucher disease, the most prevalent glycolipid storage disorder, is classically subdivided into types according to the presence or absence of neurological involvement. Type I has hitherto been considered non-neuronopathic. We present six cases and a review of the literature of Parkinsonian symptoms in type I Gaucher disease patients. The hallmark of this atypical Parkinsonian syndrome is a relatively severe clinical course with early appearance of neurological signs in the 4th to 6th decade of life, aggressive progression of the signs and refractoriness to conventional anti-Parkinson therapy. 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type="first">D.</forename><surname>Elstein</surname></persName><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation></author><author><persName><forename type="first">A.</forename><surname>Abrahamov</surname></persName><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation></author><author><persName><forename type="first">T.</forename><surname>Turezkite</surname></persName><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation><affiliation></affiliation></author><author><persName><forename type="first">E.</forename><surname>Aghai</surname></persName><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation><affiliation></affiliation></author><author><persName><forename type="first">A.</forename><surname>Reches</surname></persName><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation><affiliation></affiliation></author><author><persName><forename type="first">B.</forename><surname>Bembi</surname></persName><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation><affiliation></affiliation></author><author><persName><forename type="first">A.</forename><surname>Zimran</surname></persName><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation></author></analytic><monogr><title level="j">QJM: An International Journal of Medicine</title><idno type="pISSN">1460-2725</idno><idno type="eISSN">1460-2393</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="1996-09"></date><biblScope unit="volume">89</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="691">691</biblScope><biblScope unit="page" to="694">694</biblScope></imprint></monogr><idno type="istex">5EA0990D1A3E38D37B9B4A1B2E3B8629A2C84CA7</idno><idno type="DOI">10.1093/qjmed/89.9.691</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1996</date></creation><langUsage><language ident="en">en</language></langUsage><abstract><p>Gaucher disease, the most prevalent glycolipid storage disorder, is classically subdivided into types according to the presence or absence of neurological involvement. 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Type I has hitherto been considered non-neuronopathic. We present six cases and a review of the literature of Parkinsonian symptoms in type I Gaucher disease patients. The hallmark of this atypical Parkinsonian syndrome is a relatively severe clinical course with early appearance of neurological signs in the 4th to 6th decade of life, aggressive progression of the signs and refractoriness to conventional anti-Parkinson therapy. We discuss the implications of these findings in the light of enzyme replacement therapy for Gaucher disease.</p></abstract></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>Occurrence of Parkinson's syndrome in type 1 Gaucher disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>Occurrence of Parkinson's syndrome in type 1 Gaucher disease</title></titleInfo><name type="personal"><namePart type="given">O.</namePart><namePart type="family">Neudorfer</namePart><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">N.</namePart><namePart type="family">Giladi</namePart><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">D.</namePart><namePart type="family">Elstein</namePart><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Abrahamov</namePart><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">T.</namePart><namePart type="family">Turezkite</namePart><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">E.</namePart><namePart type="family">Aghai</namePart><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Reches</namePart><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">B.</namePart><namePart type="family">Bembi</namePart><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Zimran</namePart><affiliation>Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center Jerusalem, Israel</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article"></genre><subject><topic>Original Papers</topic></subject><originInfo><publisher>Oxford University Press</publisher><dateIssued encoding="w3cdtf">1996-09</dateIssued><copyrightDate encoding="w3cdtf">1996</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract>Gaucher disease, the most prevalent glycolipid storage disorder, is classically subdivided into types according to the presence or absence of neurological involvement. Type I has hitherto been considered non-neuronopathic. We present six cases and a review of the literature of Parkinsonian symptoms in type I Gaucher disease patients. The hallmark of this atypical Parkinsonian syndrome is a relatively severe clinical course with early appearance of neurological signs in the 4th to 6th decade of life, aggressive progression of the signs and refractoriness to conventional anti-Parkinson therapy. We discuss the implications of these findings in the light of enzyme replacement therapy for Gaucher disease.</abstract><note type="author-notes">Address correspondence to Dr Ari Zimran, Gaucher Clinic, Shaare Zedek Medical Center, PO Box 3235, Jerusalem 91031, Israel</note><relatedItem type="host"><titleInfo><title>QJM: An International Journal of Medicine</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">1460-2725</identifier><identifier type="eISSN">1460-2393</identifier><identifier type="PublisherID">qjmedj</identifier><identifier type="PublisherID-hwp">qjmed</identifier><part><date>1996</date><detail type="volume"><caption>vol.</caption><number>89</number></detail><detail type="issue"><caption>no.</caption><number>9</number></detail><extent unit="pages"><start>691</start><end>694</end></extent></part></relatedItem><identifier type="istex">5EA0990D1A3E38D37B9B4A1B2E3B8629A2C84CA7</identifier><identifier type="DOI">10.1093/qjmed/89.9.691</identifier><accessCondition type="use and reproduction" contentType="copyright">© 1996 Oxford University Press</accessCondition><recordInfo><recordContentSource>OUP</recordContentSource></recordInfo></mods></metadata><annexes><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/5EA0990D1A3E38D37B9B4A1B2E3B8629A2C84CA7/annexes/pdf</uri></json:item></annexes><enrichments><istex:catWosTEI uri="https://api.istex.fr/document/5EA0990D1A3E38D37B9B4A1B2E3B8629A2C84CA7/enrichments/catWos"><teiHeader><profileDesc><textClass><classCode scheme="WOS">MEDICINE, GENERAL & INTERNAL</classCode></textClass></profileDesc></teiHeader></istex:catWosTEI></enrichments><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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