Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization
Identifieur interne : 000314 ( Istex/Corpus ); précédent : 000313; suivant : 000315Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization
Auteurs : Rachel Saunders-Pullman ; Johann Hagenah ; Vijay Dhawan ; Kaili Stanley ; Gregory Pastores ; Swati Sathe ; Michele Tagliati ; Kelly Condefer ; Christina Palmese ; Norbert Brüggemann ; Christine Klein ; Am Roe ; Ruth Kornreich ; Laurie Ozelius ; Susan BressmanSource :
- Movement Disorders [ 0885-3185 ] ; 2010-07-30.
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Abstract
Among the genes implicated for parkinsonism is glucocerebrosidase (GBA), which causes Gaucher disease (GD). Despite a growing literature that GD may present as parkinsonism, neuroimaging, olfaction, and neuropsychological testing have not been extensively reported. We describe transcranial sonography (TCS), 18F‐fluorodopa (F‐dopa) and fluorodeoxyglucose (FDG) Positron emission tomography, olfaction testing, neuropsychological testing, and clinical features in homozygous and compound heterozygous GBA mutation carriers identified through screening of 250 Ashkenazi Jewish parkinsonian individuals treated at a tertiary care center. We identified two individuals with N370S/R496H compound heterozygous mutations and two with N370S homozygous mutations; one individual died before completing detailed evaluation. TCS (n = 3) demonstrated nigral hyperechogenicity that was greater than controls [median area maximal substantia nigra echogenicity (aSNmax) = 0.28 cm2 vs. 0.14 cm2, P = 0.005], but similar to idiopathic PD (aSNmax = 0.31 cm2). FDG PET (n = 2) demonstrated hypermetabolism of the lentiform nuclei, and F‐fluorodopa PET (n = 2), bilateral reduction in striatal F‐dopa uptake. Olfaction was markedly impaired in the two tested cases, including onset of smell disturbance in adolescence in one. Neuropsychological features (n = 3) were consistent with Parkinson's disease (PD) or diffuse Lewy body disease (DLB). The imaging, neuropsychological and olfactory markers suggest the GD phenotype includes PD with and without features of DLB, marked olfactory loss, nigral hyperechogenicity on TCS, and F‐dopa and FDG PET abnormalities. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23046
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Einstein College of Medicine, Bronx, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><affiliation><mods:affiliation>Department of Neurology, University of Luebeck, Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Dhawan, Vijay" sort="Dhawan, Vijay" uniqKey="Dhawan V" first="Vijay" last="Dhawan">Vijay Dhawan</name><affiliation><mods:affiliation>Feinstein Institute for Medical Research, Manhasset, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Stanley, Kaili" sort="Stanley, Kaili" uniqKey="Stanley K" first="Kaili" last="Stanley">Kaili Stanley</name><affiliation><mods:affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Pastores, Gregory" sort="Pastores, Gregory" uniqKey="Pastores G" 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Medical Center, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Palmese, Christina" sort="Palmese, Christina" uniqKey="Palmese C" first="Christina" last="Palmese">Christina Palmese</name><affiliation><mods:affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><affiliation><mods:affiliation>Department of Neurology, University of Luebeck, Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>Department of Neurology, University of Luebeck, Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Roe, Am" sort="Roe, Am" uniqKey="Roe A" first="Am" last="Roe">Am Roe</name><affiliation><mods:affiliation>Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Kornreich, Ruth" sort="Kornreich, Ruth" uniqKey="Kornreich R" first="Ruth" last="Kornreich">Ruth Kornreich</name><affiliation><mods:affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name><affiliation><mods:affiliation>Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Bressman, Susan" sort="Bressman, Susan" uniqKey="Bressman S" first="Susan" last="Bressman">Susan Bressman</name><affiliation><mods:affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-07-30">2010-07-30</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1364">1364</biblScope><biblScope unit="page" to="1372">1372</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">4E2ADF6717BB9FB387396CA11010B3F68C714729</idno><idno type="DOI">10.1002/mds.23046</idno><idno type="ArticleID">MDS23046</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gaucher disease</term><term>Parkinson's disease</term><term>functional imaging</term><term>glucocerebrosidase mutations transcranial sonography</term><term>olfaction</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Among the genes implicated for parkinsonism is glucocerebrosidase (GBA), which causes Gaucher disease (GD). Despite a growing literature that GD may present as parkinsonism, neuroimaging, olfaction, and neuropsychological testing have not been extensively reported. We describe transcranial sonography (TCS), 18F‐fluorodopa (F‐dopa) and fluorodeoxyglucose (FDG) Positron emission tomography, olfaction testing, neuropsychological testing, and clinical features in homozygous and compound heterozygous GBA mutation carriers identified through screening of 250 Ashkenazi Jewish parkinsonian individuals treated at a tertiary care center. We identified two individuals with N370S/R496H compound heterozygous mutations and two with N370S homozygous mutations; one individual died before completing detailed evaluation. TCS (n = 3) demonstrated nigral hyperechogenicity that was greater than controls [median area maximal substantia nigra echogenicity (aSNmax) = 0.28 cm2 vs. 0.14 cm2, P = 0.005], but similar to idiopathic PD (aSNmax = 0.31 cm2). FDG PET (n = 2) demonstrated hypermetabolism of the lentiform nuclei, and F‐fluorodopa PET (n = 2), bilateral reduction in striatal F‐dopa uptake. Olfaction was markedly impaired in the two tested cases, including onset of smell disturbance in adolescence in one. Neuropsychological features (n = 3) were consistent with Parkinson's disease (PD) or diffuse Lewy body disease (DLB). The imaging, neuropsychological and olfactory markers suggest the GD phenotype includes PD with and without features of DLB, marked olfactory loss, nigral hyperechogenicity on TCS, and F‐dopa and FDG PET abnormalities. © 2010 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Rachel Saunders‐Pullman MD, MPH, MS</name><affiliations><json:string>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</json:string><json:string>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</json:string></affiliations></json:item><json:item><name>Johann Hagenah MD</name><affiliations><json:string>Department of Neurology, University of Luebeck, Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Vijay Dhawan MD</name><affiliations><json:string>Feinstein Institute for Medical Research, Manhasset, New York, USA</json:string></affiliations></json:item><json:item><name>Kaili Stanley BS</name><affiliations><json:string>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Gregory Pastores MD</name><affiliations><json:string>Department of Neurology, New York University School of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Swati Sathe MD</name><affiliations><json:string>Department of Neurology, New York University School of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Michele Tagliati MD</name><affiliations><json:string>Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Kelly Condefer MD</name><affiliations><json:string>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Christina Palmese PhD</name><affiliations><json:string>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Norbert Brüggemann MD</name><affiliations><json:string>Department of Neurology, University of Luebeck, Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Christine Klein MD</name><affiliations><json:string>Department of Neurology, University of Luebeck, Luebeck, Germany</json:string></affiliations></json:item><json:item><name>AM Roe MD</name><affiliations><json:string>Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, New York, USA</json:string></affiliations></json:item><json:item><name>Ruth Kornreich PhD</name><affiliations><json:string>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Laurie Ozelius PhD</name><affiliations><json:string>Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA</json:string><json:string>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Susan Bressman MD</name><affiliations><json:string>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</json:string><json:string>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</json:string></affiliations></json:item></author><subject><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>Gaucher disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>glucocerebrosidase mutations transcranial sonography</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>functional imaging</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>olfaction</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Among the genes implicated for parkinsonism is glucocerebrosidase (GBA), which causes Gaucher disease (GD). Despite a growing literature that GD may present as parkinsonism, neuroimaging, olfaction, and neuropsychological testing have not been extensively reported. We describe transcranial sonography (TCS), 18F‐fluorodopa (F‐dopa) and fluorodeoxyglucose (FDG) Positron emission tomography, olfaction testing, neuropsychological testing, and clinical features in homozygous and compound heterozygous GBA mutation carriers identified through screening of 250 Ashkenazi Jewish parkinsonian individuals treated at a tertiary care center. We identified two individuals with N370S/R496H compound heterozygous mutations and two with N370S homozygous mutations; one individual died before completing detailed evaluation. TCS (n = 3) demonstrated nigral hyperechogenicity that was greater than controls [median area maximal substantia nigra echogenicity (aSNmax) = 0.28 cm2 vs. 0.14 cm2, P = 0.005], but similar to idiopathic PD (aSNmax = 0.31 cm2). FDG PET (n = 2) demonstrated hypermetabolism of the lentiform nuclei, and F‐fluorodopa PET (n = 2), bilateral reduction in striatal F‐dopa uptake. Olfaction was markedly impaired in the two tested cases, including onset of smell disturbance in adolescence in one. Neuropsychological features (n = 3) were consistent with Parkinson's disease (PD) or diffuse Lewy body disease (DLB). The imaging, neuropsychological and olfactory markers suggest the GD phenotype includes PD with and without features of DLB, marked olfactory loss, nigral hyperechogenicity on TCS, and F‐dopa and FDG PET abnormalities. © 2010 Movement Disorder Society</abstract><qualityIndicators><score>7.76</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1676</abstractCharCount><pdfWordCount>5355</pdfWordCount><pdfCharCount>36101</pdfCharCount><pdfPageCount>9</pdfPageCount><abstractWordCount>230</abstractWordCount></qualityIndicators><title>Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization</title><genre><json:string>Serial article</json:string></genre><host><volume>25</volume><pages><total>9</total><last>1372</last><first>1364</first></pages><issn><json:string>0885-3185</json:string></issn><issue>10</issue><subject><json:item><value>Research 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xml:lang="en">Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2010</date></publicationStmt><notesStmt><note type="content">*Potential conflict of interest: Nothing to report.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization</title><author><persName><forename type="first">Rachel</forename><surname>Saunders‐Pullman</surname><roleName type="degree">MD, MPH, MS</roleName></persName><note type="correspondence"><p>Correspondence: Department of Neurology, Beth Israel Medical Center, 10 Union Square East, Suite 5J PACC, New York 10003, NY</p></note><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation><affiliation>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</affiliation></author><author><persName><forename type="first">Johann</forename><surname>Hagenah</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, University of Luebeck, Luebeck, Germany</affiliation></author><author><persName><forename type="first">Vijay</forename><surname>Dhawan</surname><roleName type="degree">MD</roleName></persName><affiliation>Feinstein Institute for Medical Research, Manhasset, New York, USA</affiliation></author><author><persName><forename type="first">Kaili</forename><surname>Stanley</surname><roleName type="degree">BS</roleName></persName><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation></author><author><persName><forename type="first">Gregory</forename><surname>Pastores</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, New York University School of Medicine, New York, New York, USA</affiliation></author><author><persName><forename type="first">Swati</forename><surname>Sathe</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, New York University School of Medicine, New York, New York, USA</affiliation></author><author><persName><forename type="first">Michele</forename><surname>Tagliati</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA</affiliation></author><author><persName><forename type="first">Kelly</forename><surname>Condefer</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation></author><author><persName><forename type="first">Christina</forename><surname>Palmese</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation></author><author><persName><forename type="first">Norbert</forename><surname>Brüggemann</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, University of Luebeck, Luebeck, Germany</affiliation></author><author><persName><forename type="first">Christine</forename><surname>Klein</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, University of Luebeck, Luebeck, Germany</affiliation></author><author><persName><forename type="first">AM</forename><surname>Roe</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, New York, USA</affiliation></author><author><persName><forename type="first">Ruth</forename><surname>Kornreich</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</affiliation></author><author><persName><forename type="first">Laurie</forename><surname>Ozelius</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA</affiliation><affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</affiliation></author><author><persName><forename type="first">Susan</forename><surname>Bressman</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation><affiliation>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-07-30"></date><biblScope unit="vol">25</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1364">1364</biblScope><biblScope unit="page" to="1372">1372</biblScope></imprint></monogr><idno type="istex">4E2ADF6717BB9FB387396CA11010B3F68C714729</idno><idno type="DOI">10.1002/mds.23046</idno><idno type="ArticleID">MDS23046</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2010</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Among the genes implicated for parkinsonism is glucocerebrosidase (GBA), which causes Gaucher disease (GD). Despite a growing literature that GD may present as parkinsonism, neuroimaging, olfaction, and neuropsychological testing have not been extensively reported. We describe transcranial sonography (TCS), 18F‐fluorodopa (F‐dopa) and fluorodeoxyglucose (FDG) Positron emission tomography, olfaction testing, neuropsychological testing, and clinical features in homozygous and compound heterozygous GBA mutation carriers identified through screening of 250 Ashkenazi Jewish parkinsonian individuals treated at a tertiary care center. We identified two individuals with N370S/R496H compound heterozygous mutations and two with N370S homozygous mutations; one individual died before completing detailed evaluation. TCS (n = 3) demonstrated nigral hyperechogenicity that was greater than controls [median area maximal substantia nigra echogenicity (aSNmax) = 0.28 cm2 vs. 0.14 cm2, P = 0.005], but similar to idiopathic PD (aSNmax = 0.31 cm2). FDG PET (n = 2) demonstrated hypermetabolism of the lentiform nuclei, and F‐fluorodopa PET (n = 2), bilateral reduction in striatal F‐dopa uptake. Olfaction was markedly impaired in the two tested cases, including onset of smell disturbance in adolescence in one. Neuropsychological features (n = 3) were consistent with Parkinson's disease (PD) or diffuse Lewy body disease (DLB). The imaging, neuropsychological and olfactory markers suggest the GD phenotype includes PD with and without features of DLB, marked olfactory loss, nigral hyperechogenicity on TCS, and F‐dopa and FDG PET abnormalities. © 2010 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson's disease</term></item><item><term>Gaucher disease</term></item><item><term>glucocerebrosidase mutations transcranial sonography</term></item><item><term>functional imaging</term></item><item><term>olfaction</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2009-05-28">Received</change><change when="2010-01-19">Registration</change><change when="2010-07-30">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/4E2ADF6717BB9FB387396CA11010B3F68C714729/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="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="100"><doi origin="wiley" registered="yes">10.1002/mds.v25:10</doi><numberingGroup><numbering type="journalVolume" number="25">25</numbering><numbering type="journalIssue">10</numbering></numberingGroup><coverDate startDate="2010-07-30">30 July 2010</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="60" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23046</doi><idGroup><id type="unit" value="MDS23046"></id></idGroup><countGroup><count type="pageTotal" number="9"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2010 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2009-05-28"></event><event type="manuscriptRevised" date="2009-10-13"></event><event type="manuscriptAccepted" date="2010-01-19"></event><event type="firstOnline" date="2010-05-21"></event><event type="publishedOnlineFinalForm" date="2010-07-23"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2010-05-21"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.5.2 mode:FullText source:FullText result:FullText" date="2011-06-21"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">1364</numbering><numbering type="pageLast">1372</numbering></numberingGroup><correspondenceTo>Department of Neurology, Beth Israel Medical Center, 10 Union Square East, Suite 5J PACC, New York 10003, NY</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23046.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="4"></count><count type="referenceTotal" number="55"></count><count type="wordTotal" number="6982"></count></countGroup><titleGroup><title type="main" xml:lang="en">Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization<link href="#fn11"></link></title><title type="short" xml:lang="en">Gaucher Identified in Parkinson's Clinic</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Rachel</givenNames><familyName>Saunders‐Pullman</familyName><degrees>MD, MPH, MS</degrees></personName><contactDetails><email>rsaunder@bethisraelny.org</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Johann</givenNames><familyName>Hagenah</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Vijay</givenNames><familyName>Dhawan</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Kaili</givenNames><familyName>Stanley</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Gregory</givenNames><familyName>Pastores</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Swati</givenNames><familyName>Sathe</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" 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type="organization"><unparsedAffiliation>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, University of Luebeck, Luebeck, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Feinstein Institute for Medical Research, Manhasset, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, New York University School of Medicine, New York, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Mount Sinai School of Medicine, New York, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="US" type="organization"><unparsedAffiliation>Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="US" type="organization"><unparsedAffiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2">Gaucher disease</keyword><keyword xml:id="kwd3">glucocerebrosidase mutations transcranial sonography</keyword><keyword xml:id="kwd4">functional imaging</keyword><keyword xml:id="kwd5">olfaction</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Among the genes implicated for parkinsonism is glucocerebrosidase (GBA), which causes Gaucher disease (GD). Despite a growing literature that GD may present as parkinsonism, neuroimaging, olfaction, and neuropsychological testing have not been extensively reported. We describe transcranial sonography (TCS), 18F‐fluorodopa (F‐dopa) and fluorodeoxyglucose (FDG) Positron emission tomography, olfaction testing, neuropsychological testing, and clinical features in homozygous and compound heterozygous GBA mutation carriers identified through screening of 250 Ashkenazi Jewish parkinsonian individuals treated at a tertiary care center. We identified two individuals with N370S/R496H compound heterozygous mutations and two with N370S homozygous mutations; one individual died before completing detailed evaluation. TCS (n = 3) demonstrated nigral hyperechogenicity that was greater than controls [median area maximal substantia nigra echogenicity (aSNmax) = 0.28 cm<sup>2</sup> vs. 0.14 cm<sup>2</sup>, <i>P</i> = 0.005], but similar to idiopathic PD (aSNmax = 0.31 cm<sup>2</sup>). FDG PET (n = 2) demonstrated hypermetabolism of the lentiform nuclei, and F‐fluorodopa PET (n = 2), bilateral reduction in striatal F‐dopa uptake. Olfaction was markedly impaired in the two tested cases, including onset of smell disturbance in adolescence in one. Neuropsychological features (n = 3) were consistent with Parkinson's disease (PD) or diffuse Lewy body disease (DLB). The imaging, neuropsychological and olfactory markers suggest the GD phenotype includes PD with and without features of DLB, marked olfactory loss, nigral hyperechogenicity on TCS, and F‐dopa and FDG PET abnormalities. © 2010 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn11"><p>Potential conflict of interest: Nothing to report.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Gaucher Identified in Parkinson's Clinic</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization</title></titleInfo><name type="personal"><namePart type="given">Rachel</namePart><namePart type="family">Saunders‐Pullman</namePart><namePart type="termsOfAddress">MD, MPH, MS</namePart><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation><affiliation>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</affiliation><description>Correspondence: Department of Neurology, Beth Israel Medical Center, 10 Union Square East, Suite 5J PACC, New York 10003, NY</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Johann</namePart><namePart type="family">Hagenah</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Luebeck, Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vijay</namePart><namePart type="family">Dhawan</namePart><namePart 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York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Norbert</namePart><namePart type="family">Brüggemann</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Luebeck, Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Klein</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Luebeck, Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">AM</namePart><namePart type="family">Roe</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, New York, USA</affiliation><role><roleTerm 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unit="references">55</extent><extent unit="words">6982</extent></physicalDescription><abstract lang="en">Among the genes implicated for parkinsonism is glucocerebrosidase (GBA), which causes Gaucher disease (GD). Despite a growing literature that GD may present as parkinsonism, neuroimaging, olfaction, and neuropsychological testing have not been extensively reported. We describe transcranial sonography (TCS), 18F‐fluorodopa (F‐dopa) and fluorodeoxyglucose (FDG) Positron emission tomography, olfaction testing, neuropsychological testing, and clinical features in homozygous and compound heterozygous GBA mutation carriers identified through screening of 250 Ashkenazi Jewish parkinsonian individuals treated at a tertiary care center. We identified two individuals with N370S/R496H compound heterozygous mutations and two with N370S homozygous mutations; one individual died before completing detailed evaluation. TCS (n = 3) demonstrated nigral hyperechogenicity that was greater than controls [median area maximal substantia nigra echogenicity (aSNmax) = 0.28 cm2 vs. 0.14 cm2, P = 0.005], but similar to idiopathic PD (aSNmax = 0.31 cm2). FDG PET (n = 2) demonstrated hypermetabolism of the lentiform nuclei, and F‐fluorodopa PET (n = 2), bilateral reduction in striatal F‐dopa uptake. Olfaction was markedly impaired in the two tested cases, including onset of smell disturbance in adolescence in one. Neuropsychological features (n = 3) were consistent with Parkinson's disease (PD) or diffuse Lewy body disease (DLB). The imaging, neuropsychological and olfactory markers suggest the GD phenotype includes PD with and without features of DLB, marked olfactory loss, nigral hyperechogenicity on TCS, and F‐dopa and FDG PET abnormalities. © 2010 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: Nothing to report.</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>Gaucher disease</topic><topic>glucocerebrosidase mutations transcranial sonography</topic><topic>functional imaging</topic><topic>olfaction</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. 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