Gaucher Disease Ascertained through a Parkinson’s Center: Imaging and Clinical Characterization
Identifieur interne : 000342 ( Pmc/Checkpoint ); précédent : 000341; suivant : 000343Gaucher Disease Ascertained through a Parkinson’s Center: Imaging and Clinical Characterization
Auteurs : R. Saunders-Pullman [États-Unis] ; J. Hagenah [Allemagne] ; V. Dhawan [États-Unis] ; K. Stanley [États-Unis] ; G. Pastores [États-Unis] ; S. Sathe [États-Unis] ; M. Tagliati [États-Unis] ; K. Condefer [États-Unis] ; C. Palmese [États-Unis] ; N. Brüggemann [Allemagne] ; C. Klein [Allemagne] ; Am Roe [États-Unis] ; R. Kornreich [États-Unis] ; Lj Ozelius [États-Unis] ; Sb Bressman [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2010.
Abstract
Among the genes implicated for parkinsonism is glucocerebrosidase (
Url:
DOI: 10.1002/mds.23046
PubMed: 20629126
PubMed Central: 2914177
Affiliations:
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<author><name sortKey="Sathe, S" sort="Sathe, S" uniqKey="Sathe S" first="S" last="Sathe">S. Sathe</name>
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</placeName>
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</affiliation>
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<author><name sortKey="Tagliati, M" sort="Tagliati, M" uniqKey="Tagliati M" first="M" last="Tagliati">M. Tagliati</name>
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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea> Department of Neurology, Mount Sinai School of Medicine, New York</wicri:cityArea>
</affiliation>
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<author><name sortKey="Condefer, K" sort="Condefer, K" uniqKey="Condefer K" first="K" last="Condefer">K. Condefer</name>
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<author><name sortKey="Palmese, C" sort="Palmese, C" uniqKey="Palmese C" first="C" last="Palmese">C. Palmese</name>
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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea> Departments of Neurology, Beth Israel Medical Center, New York</wicri:cityArea>
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<author><name sortKey="Bruggemann, N" sort="Bruggemann, N" uniqKey="Bruggemann N" first="N" last="Brüggemann">N. Brüggemann</name>
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<wicri:noRegion>Luebeck</wicri:noRegion>
<wicri:noRegion>Luebeck</wicri:noRegion>
</affiliation>
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<author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C" last="Klein">C. Klein</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea> Department of Neurology, University of Luebeck, Luebeck</wicri:regionArea>
<wicri:noRegion>Luebeck</wicri:noRegion>
<wicri:noRegion>Luebeck</wicri:noRegion>
<wicri:noRegion>Luebeck</wicri:noRegion>
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<author><name sortKey="Roe, Am" sort="Roe, Am" uniqKey="Roe A" first="Am" last="Roe">Am Roe</name>
<affiliation wicri:level="2"><nlm:aff id="A3"> Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea> Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Kornreich, R" sort="Kornreich, R" uniqKey="Kornreich R" first="R" last="Kornreich">R. Kornreich</name>
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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea> Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York</wicri:cityArea>
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<author><name sortKey="Ozelius, Lj" sort="Ozelius, Lj" uniqKey="Ozelius L" first="Lj" last="Ozelius">Lj Ozelius</name>
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<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea> Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York</wicri:cityArea>
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<affiliation wicri:level="2"><nlm:aff id="A8"> Department of Neurology, Mount Sinai School of Medicine, New York, New York</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea> Department of Neurology, Mount Sinai School of Medicine, New York</wicri:cityArea>
</affiliation>
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<author><name sortKey="Bressman, Sb" sort="Bressman, Sb" uniqKey="Bressman S" first="Sb" last="Bressman">Sb Bressman</name>
<affiliation wicri:level="2"><nlm:aff id="A1"> Departments of Neurology, Beth Israel Medical Center, New York, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea> Departments of Neurology, Beth Israel Medical Center, New York</wicri:cityArea>
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<affiliation wicri:level="2"><nlm:aff id="A2"> Department of Neurology, Albert Einstein College of Medicine, Bronx, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea> Department of Neurology, Albert Einstein College of Medicine, Bronx</wicri:cityArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2010">2010</date>
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<front><div type="abstract" xml:lang="en"><p id="P1">Among the genes implicated for parkinsonism is glucocerebrosidase (<italic>GBA</italic>
), 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) PET, olfaction testing, neuropsychological testing and clinical features in homozygous and compound heterozygous glucocerebrosidase 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>
, p=0.005), but similar to IPD (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 FDOPA 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 FDOPA and FDG PET abnormalities.</p>
</div>
</front>
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<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8610688</journal-id>
<journal-id journal-id-type="pubmed-jr-id">5937</journal-id>
<journal-id journal-id-type="nlm-ta">Mov Disord</journal-id>
<journal-title>Movement disorders : official journal of the Movement Disorder Society</journal-title>
<issn pub-type="ppub">0885-3185</issn>
<issn pub-type="epub">1531-8257</issn>
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<contrib-group><contrib contrib-type="author"><name><surname>Saunders-Pullman</surname>
<given-names>R</given-names>
</name>
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<xref rid="A2" ref-type="aff">2</xref>
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</name>
<xref rid="A5" ref-type="aff">5</xref>
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<given-names>K</given-names>
</name>
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</contrib>
<contrib contrib-type="author"><name><surname>Pastores</surname>
<given-names>G</given-names>
</name>
<xref rid="A6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sathe</surname>
<given-names>S</given-names>
</name>
<xref rid="A6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tagliati</surname>
<given-names>M</given-names>
</name>
<xref rid="A8" ref-type="aff">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Condefer</surname>
<given-names>K</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Palmese</surname>
<given-names>C</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brüggemann</surname>
<given-names>N</given-names>
</name>
<xref rid="A4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Klein</surname>
<given-names>C</given-names>
</name>
<xref rid="A4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Roe</surname>
<given-names>AM</given-names>
</name>
<xref rid="A3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kornreich</surname>
<given-names>R</given-names>
</name>
<xref rid="A7" ref-type="aff">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ozelius</surname>
<given-names>LJ</given-names>
</name>
<xref rid="A7" ref-type="aff">7</xref>
<xref rid="A8" ref-type="aff">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bressman</surname>
<given-names>SB</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Departments of Neurology, Beth Israel Medical Center, New York, NY</aff>
<aff id="A2"><label>2</label>
Department of Neurology, Albert Einstein College of Medicine, Bronx, NY</aff>
<aff id="A3"><label>3</label>
Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, NY</aff>
<aff id="A4"><label>4</label>
Department of Neurology, University of Luebeck, Luebeck, Germany</aff>
<aff id="A5"><label>5</label>
Feinstein Institute for Medical Research, Manhasset, NY</aff>
<aff id="A6"><label>6</label>
Department of Neurology, New York University School of Medicine, New York, NY</aff>
<aff id="A7"><label>7</label>
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York</aff>
<aff id="A8"><label>8</label>
Department of Neurology, Mount Sinai School of Medicine, New York, New York</aff>
<author-notes><corresp id="FN1">Corresponding author: Rachel Saunders-Pullman MD MPH, Department of Neurology, Beth Israel Medical Center, 10 Union Square East, Suite 5J PACC, New York, NY 10003 tel: 212-844-8719 fax: 212-844-8710</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>30</day>
<month>6</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="ppub"><day>30</day>
<month>7</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>30</day>
<month>7</month>
<year>2011</year>
</pub-date>
<volume>25</volume>
<issue>10</issue>
<fpage>1364</fpage>
<lpage>1372</lpage>
<abstract><p id="P1">Among the genes implicated for parkinsonism is glucocerebrosidase (<italic>GBA</italic>
), 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) PET, olfaction testing, neuropsychological testing and clinical features in homozygous and compound heterozygous glucocerebrosidase 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>
, p=0.005), but similar to IPD (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 FDOPA 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 FDOPA and FDG PET abnormalities.</p>
</abstract>
<kwd-group><kwd>Parkinson’s disease</kwd>
<kwd>Gaucher Disease</kwd>
<kwd>Glucocerebrosidase Mutations</kwd>
<kwd>Transcranial sonography</kwd>
<kwd>Functional Imaging</kwd>
<kwd>Olfaction</kwd>
</kwd-group>
<contract-num rid="NS1">K23 NS047256-05
||NS</contract-num>
<contract-sponsor id="NS1">National Institute of Neurological Disorders and Stroke : NINDS</contract-sponsor>
</article-meta>
</front>
</pmc>
<affiliations><list><country><li>Allemagne</li>
<li>États-Unis</li>
</country>
<region><li>État de New York</li>
</region>
</list>
<tree><country name="États-Unis"><region name="État de New York"><name sortKey="Saunders Pullman, R" sort="Saunders Pullman, R" uniqKey="Saunders Pullman R" first="R" last="Saunders-Pullman">R. Saunders-Pullman</name>
</region>
<name sortKey="Bressman, Sb" sort="Bressman, Sb" uniqKey="Bressman S" first="Sb" last="Bressman">Sb Bressman</name>
<name sortKey="Bressman, Sb" sort="Bressman, Sb" uniqKey="Bressman S" first="Sb" last="Bressman">Sb Bressman</name>
<name sortKey="Condefer, K" sort="Condefer, K" uniqKey="Condefer K" first="K" last="Condefer">K. Condefer</name>
<name sortKey="Dhawan, V" sort="Dhawan, V" uniqKey="Dhawan V" first="V." last="Dhawan">V. Dhawan</name>
<name sortKey="Kornreich, R" sort="Kornreich, R" uniqKey="Kornreich R" first="R" last="Kornreich">R. Kornreich</name>
<name sortKey="Ozelius, Lj" sort="Ozelius, Lj" uniqKey="Ozelius L" first="Lj" last="Ozelius">Lj Ozelius</name>
<name sortKey="Ozelius, Lj" sort="Ozelius, Lj" uniqKey="Ozelius L" first="Lj" last="Ozelius">Lj Ozelius</name>
<name sortKey="Palmese, C" sort="Palmese, C" uniqKey="Palmese C" first="C" last="Palmese">C. Palmese</name>
<name sortKey="Pastores, G" sort="Pastores, G" uniqKey="Pastores G" first="G" last="Pastores">G. Pastores</name>
<name sortKey="Roe, Am" sort="Roe, Am" uniqKey="Roe A" first="Am" last="Roe">Am Roe</name>
<name sortKey="Sathe, S" sort="Sathe, S" uniqKey="Sathe S" first="S" last="Sathe">S. Sathe</name>
<name sortKey="Saunders Pullman, R" sort="Saunders Pullman, R" uniqKey="Saunders Pullman R" first="R" last="Saunders-Pullman">R. Saunders-Pullman</name>
<name sortKey="Stanley, K" sort="Stanley, K" uniqKey="Stanley K" first="K" last="Stanley">K. Stanley</name>
<name sortKey="Tagliati, M" sort="Tagliati, M" uniqKey="Tagliati M" first="M" last="Tagliati">M. Tagliati</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Hagenah, J" sort="Hagenah, J" uniqKey="Hagenah J" first="J" last="Hagenah">J. Hagenah</name>
</noRegion>
<name sortKey="Bruggemann, N" sort="Bruggemann, N" uniqKey="Bruggemann N" first="N" last="Brüggemann">N. Brüggemann</name>
<name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C" last="Klein">C. Klein</name>
</country>
</tree>
</affiliations>
</record>
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