Parkinsonism among Gaucher disease carriers
Identifieur interne : 002B01 ( Main/Corpus ); précédent : 002B00; suivant : 002B02Parkinsonism among Gaucher disease carriers
Auteurs : O. Goker-Alpan ; R. Schiffmann ; M E Lamarca ; R L Nussbaum ; A. Mcinerney-Leo ; E. SidranskySource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2004-12.
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- KwdEn :
Abstract
An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed carriers of glucocerebrosidase mutations developed parkinsonism. These observations indicate that mutant glucocerebrosidase, even in heterozygotes, may be a risk factor for the development of parkinsonism. Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease.
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DOI: 10.1136/jmg.2004.024455
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ISTEX:CEE01029CE143F43170CAEE1724F13857E2BB953Le document en format XML
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Schiffmann</name><affiliation><mods:affiliation>Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA</mods:affiliation></affiliation></author><author><name sortKey="Lamarca, M E" sort="Lamarca, M E" uniqKey="Lamarca M" first="M E" last="Lamarca">M E Lamarca</name><affiliation><mods:affiliation>Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</mods:affiliation></affiliation></author><author><name sortKey="Nussbaum, R L" sort="Nussbaum, R L" uniqKey="Nussbaum R" first="R L" last="Nussbaum">R L Nussbaum</name><affiliation><mods:affiliation>Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</mods:affiliation></affiliation></author><author><name sortKey="Mcinerney Leo, A" sort="Mcinerney Leo, A" uniqKey="Mcinerney Leo A" first="A" last="Mcinerney-Leo">A. 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Sidransky</name><affiliation><mods:affiliation>Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2004-12">2004-12</date><biblScope unit="volume">41</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="937">937</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">CEE01029CE143F43170CAEE1724F13857E2BB953</idno><idno type="DOI">10.1136/jmg.2004.024455</idno><idno type="href">jmedgenet-41-937.pdf</idno><idno type="PMID">15591280</idno><idno type="local">0410937</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gaucher disease</term><term>heterozygotes</term><term>parkinsonism</term><term>pedigrees</term><term>risk factor</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed carriers of glucocerebrosidase mutations developed parkinsonism. These observations indicate that mutant glucocerebrosidase, even in heterozygotes, may be a risk factor for the development of parkinsonism. Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease.</div></front></TEI><istex><corpusName>bmj</corpusName><author><json:item><name>O Goker-Alpan</name><affiliations><json:string>Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA</json:string><json:string>Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</json:string></affiliations></json:item><json:item><name>R Schiffmann</name><affiliations><json:string>Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA</json:string></affiliations></json:item><json:item><name>M E LaMarca</name><affiliations><json:string>Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA</json:string><json:string>Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</json:string></affiliations></json:item><json:item><name>R L Nussbaum</name><affiliations><json:string>Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</json:string></affiliations></json:item><json:item><name>A McInerney-Leo</name><affiliations><json:string>Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</json:string></affiliations></json:item><json:item><name>E Sidransky</name><affiliations><json:string>Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA</json:string><json:string>Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Short reports</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>Metabolic disorders</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Gaucher disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>heterozygotes</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>pedigrees</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>risk factor</value></json:item></subject><language><json:string>eng</json:string></language><abstract>An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed carriers of glucocerebrosidase mutations developed parkinsonism. These observations indicate that mutant glucocerebrosidase, even in heterozygotes, may be a risk factor for the development of parkinsonism. Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease.</abstract><qualityIndicators><score>3.107</score><pdfVersion>1.2</pdfVersion><pdfPageSize>612 x 792 pts (letter)</pdfPageSize><refBibsNative>false</refBibsNative><keywordCount>8</keywordCount><abstractCharCount>809</abstractCharCount><pdfWordCount>1871</pdfWordCount><pdfCharCount>14344</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>103</abstractWordCount></qualityIndicators><title>Parkinsonism among Gaucher disease carriers</title><pmid><json:string>15591280</json:string></pmid><genre><json:string>other</json:string></genre><host><volume>41</volume><pages><first>937</first></pages><issn><json:string>0022-2593</json:string></issn><issue>12</issue><genre></genre><language><json:string>unknown</json:string></language><eissn><json:string>1468-6244</json:string></eissn><title>Journal of Medical Genetics</title></host><publicationDate>2004</publicationDate><copyrightDate>2004</copyrightDate><doi><json:string>10.1136/jmg.2004.024455</json:string></doi><id>CEE01029CE143F43170CAEE1724F13857E2BB953</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/CEE01029CE143F43170CAEE1724F13857E2BB953/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/CEE01029CE143F43170CAEE1724F13857E2BB953/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/CEE01029CE143F43170CAEE1724F13857E2BB953/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Parkinsonism among Gaucher disease carriers</title><respStmt xml:id="ISTEX-API" resp="Références bibliographiques récupérées via GROBID" name="ISTEX-API (INIST-CNRS)"></respStmt></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>BMJ Publishing Group Ltd</publisher><availability><p>BMJ</p></availability><date>2004-12-09</date></publicationStmt><notesStmt><note>Correspondence to:
Dr Ellen Sidransky
Section on Molecular Neurogenetics, 35 Convent Drive MSC 3708, 35/1A213, Bethesda, MD 20892–3708, USA; sidranse@irp.nimh.nih.gov</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Parkinsonism among Gaucher disease carriers</title><author><persName><forename type="first">O</forename><surname>Goker-Alpan</surname></persName><affiliation>Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA</affiliation><affiliation>Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</affiliation></author><author><persName><forename type="first">R</forename><surname>Schiffmann</surname></persName><affiliation>Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA</affiliation></author><author><persName><forename type="first">M E</forename><surname>LaMarca</surname></persName><affiliation>Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA</affiliation><affiliation>Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</affiliation></author><author><persName><forename type="first">R L</forename><surname>Nussbaum</surname></persName><affiliation>Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</affiliation></author><author><persName><forename type="first">A</forename><surname>McInerney-Leo</surname></persName><affiliation>Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</affiliation></author><author><persName><forename type="first">E</forename><surname>Sidransky</surname></persName><affiliation>Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA</affiliation><affiliation>Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</affiliation></author></analytic><monogr><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="pISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2004-12"></date><biblScope unit="volume">41</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="937">937</biblScope></imprint></monogr><idno type="istex">CEE01029CE143F43170CAEE1724F13857E2BB953</idno><idno type="DOI">10.1136/jmg.2004.024455</idno><idno type="href">jmedgenet-41-937.pdf</idno><idno type="PMID">15591280</idno><idno type="local">0410937</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2004-12-09</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed carriers of glucocerebrosidase mutations developed parkinsonism. These observations indicate that mutant glucocerebrosidase, even in heterozygotes, may be a risk factor for the development of parkinsonism. Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease.</p></abstract><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Parkinson's disease</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Metabolic disorders</term></item></list></keywords></textClass><textClass xml:lang="en"><keywords scheme="keyword"><list><head>KWD</head><item><term>Gaucher disease</term></item><item><term>heterozygotes</term></item><item><term>parkinsonism</term></item><item><term>pedigrees</term></item><item><term>risk factor</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2004-12-09">Created</change><change when="2004-12">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-3-14">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/CEE01029CE143F43170CAEE1724F13857E2BB953/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus bmj" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="no"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Archiving and Interchange DTD v2.3 20070202//EN" URI="archivearticle.dtd" name="istex:docType"></istex:docType><istex:document><article xml:lang="en" article-type="other"><front><journal-meta><journal-id journal-id-type="hwp">jmedgenet</journal-id><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><abbrev-journal-title abbrev-type="publisher">J Med Genet</abbrev-journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Publishing Group Ltd</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="other">0410937</article-id><article-id pub-id-type="doi">10.1136/jmg.2004.024455</article-id><article-id pub-id-type="other">jmedgenet;41/12/937</article-id><article-id pub-id-type="pmid">15591280</article-id><article-id pub-id-type="other">937</article-id><article-id pub-id-type="other">jmg.2004.024455</article-id><article-categories><subj-group subj-group-type="heading"><subject content-type="original">Short reports</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Parkinson's disease</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Metabolic disorders</subject></subj-group></article-categories><title-group><article-title>Parkinsonism among Gaucher disease carriers</article-title></title-group><contrib-group><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Goker-Alpan</surname><given-names>O</given-names></name><xref rid="AFF1">1</xref><xref rid="AFF2">2</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Schiffmann</surname><given-names>R</given-names></name><xref rid="AFF3">3</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>LaMarca</surname><given-names>M E</given-names></name><xref rid="AFF1">1</xref><xref rid="AFF2">2</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Nussbaum</surname><given-names>R L</given-names></name><xref rid="AFF4">4</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>McInerney-Leo</surname><given-names>A</given-names></name><xref rid="AFF4">4</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Sidransky</surname><given-names>E</given-names></name><xref rid="AFF1">1</xref><xref rid="AFF2">2</xref></contrib><aff id="AFF1"><label>1</label>Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA</aff><aff id="AFF2"><label>2</label>Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</aff><aff id="AFF3"><label>3</label>Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA</aff><aff id="AFF4"><label>4</label>Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</aff></contrib-group><author-notes><corresp>Correspondence to:
Dr Ellen Sidransky
Section on Molecular Neurogenetics, 35 Convent Drive MSC 3708, 35/1A213, Bethesda, MD 20892–3708, USA; <ext-link xlink:href="sidranseirp.nimh.nih.gov" ext-link-type="email" xlink:type="simple">sidranse@irp.nimh.nih.gov</ext-link></corresp></author-notes><pub-date pub-type="ppub"><month>12</month><year>2004</year></pub-date><pub-date pub-type="epub"><day>9</day><month>12</month><year>2004</year></pub-date><volume>41</volume><volume-id pub-id-type="other">41</volume-id><volume-id pub-id-type="other">41</volume-id><issue>12</issue><issue-id pub-id-type="other">jmedgenet;41/12</issue-id><issue-id pub-id-type="other">12</issue-id><issue-id pub-id-type="other">41/12</issue-id><fpage>937</fpage><history><date date-type="accepted"><day>12</day><month>07</month><year>2004</year></date><date date-type="rev-recd"><day>08</day><month>07</month><year>2004</year></date></history><permissions><copyright-statement>Copyright 2004 Journal of Medical Genetics</copyright-statement><copyright-year>2004</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="jmedgenet-41-937.pdf"></self-uri><abstract xml:lang="en"><p>An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed carriers of glucocerebrosidase mutations developed parkinsonism. These observations indicate that mutant glucocerebrosidase, even in heterozygotes, may be a risk factor for the development of parkinsonism. Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease.</p></abstract><kwd-group kwd-group-type="KWD" xml:lang="en"><kwd>Gaucher disease</kwd><kwd>heterozygotes</kwd><kwd>parkinsonism</kwd><kwd>pedigrees</kwd><kwd>risk factor</kwd></kwd-group></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Parkinsonism among Gaucher disease carriers</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Parkinsonism among Gaucher disease carriers</title></titleInfo><name type="personal"><namePart type="given">O</namePart><namePart type="family">Goker-Alpan</namePart><affiliation>Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA</affiliation><affiliation>Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R</namePart><namePart type="family">Schiffmann</namePart><affiliation>Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M E</namePart><namePart type="family">LaMarca</namePart><affiliation>Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA</affiliation><affiliation>Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R L</namePart><namePart type="family">Nussbaum</namePart><affiliation>Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A</namePart><namePart type="family">McInerney-Leo</namePart><affiliation>Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">E</namePart><namePart type="family">Sidransky</namePart><affiliation>Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA</affiliation><affiliation>Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="other" displayLabel="other"></genre><subject><genre>hwp-journal-coll</genre><topic>Parkinson's disease</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Metabolic disorders</topic></subject><originInfo><publisher>BMJ Publishing Group Ltd</publisher><dateIssued encoding="w3cdtf">2004-12</dateIssued><dateCreated encoding="w3cdtf">2004-12-09</dateCreated><copyrightDate encoding="w3cdtf">2004</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 lang="en">An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed carriers of glucocerebrosidase mutations developed parkinsonism. These observations indicate that mutant glucocerebrosidase, even in heterozygotes, may be a risk factor for the development of parkinsonism. Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease.</abstract><note type="author-notes">Correspondence to:
Dr Ellen Sidransky
Section on Molecular Neurogenetics, 35 Convent Drive MSC 3708, 35/1A213, Bethesda, MD 20892–3708, USA; sidranse@irp.nimh.nih.gov</note><subject lang="en"><genre>KWD</genre><topic>Gaucher disease</topic><topic>heterozygotes</topic><topic>parkinsonism</topic><topic>pedigrees</topic><topic>risk factor</topic></subject><relatedItem type="host"><titleInfo><title>Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>J Med Genet</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">0022-2593</identifier><identifier type="eISSN">1468-6244</identifier><identifier type="PublisherID-hwp">jmedgenet</identifier><identifier type="PublisherID-nlm-ta">J Med Genet</identifier><part><date>2004</date><detail type="volume"><caption>vol.</caption><number>41</number></detail><detail type="issue"><caption>no.</caption><number>12</number></detail><extent unit="pages"><start>937</start></extent></part></relatedItem><identifier type="istex">CEE01029CE143F43170CAEE1724F13857E2BB953</identifier><identifier type="DOI">10.1136/jmg.2004.024455</identifier><identifier type="href">jmedgenet-41-937.pdf</identifier><identifier type="PMID">15591280</identifier><identifier type="local">0410937</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright 2004 Journal of Medical Genetics</accessCondition><recordInfo><recordContentSource>BMJ</recordContentSource></recordInfo></mods></metadata><annexes><json:item><original>true</original><mimetype>image/jpeg</mimetype><extension>jpeg</extension><uri>https://api.istex.fr/document/CEE01029CE143F43170CAEE1724F13857E2BB953/annexes/jpeg</uri></json:item></annexes><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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