Gaucher Disease Ascertained Through a Parkinson's Center: Imaging and Clinical Characterization
Identifieur interne : 002315 ( PascalFrancis/Curation ); précédent : 002314; suivant : 002316Gaucher Disease Ascertained Through a Parkinson's Center: Imaging and Clinical Characterization
Auteurs : Rachel Saunders-Pullman [États-Unis] ; Johann Hagenah [Allemagne] ; Vijay Dhawan [États-Unis] ; Kaili Stanley [États-Unis] ; Gregory Pastores [États-Unis] ; Swati Sathe [États-Unis] ; Michele Tagliati [États-Unis] ; Kelly Condefer [États-Unis] ; Christina Palmese [États-Unis] ; Norbert Braggemann [Allemagne] ; Christine Klein [Allemagne] ; A. M. Roe [États-Unis] ; Ruth Kornreich [États-Unis] ; Laurie Ozelius [États-Unis] ; Susan Bressman [États-Unis]Source :
- Movement disorders [ 0885-3185 ] ; 2010.
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- Pascal (Inist)
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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.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Gaucher Disease Ascertained Through a Parkinson's Center: Imaging and Clinical Characterization</title><author><name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Beth Israel Medical Center</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Albert Einstein College of Medicine</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Luebeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Dhawan, Vijay" sort="Dhawan, Vijay" uniqKey="Dhawan V" first="Vijay" last="Dhawan">Vijay Dhawan</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Feinstein Institute for Medical Research</s1><s2>Manhasset, New York</s2><s3>USA</s3><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Stanley, Kaili" sort="Stanley, Kaili" uniqKey="Stanley K" first="Kaili" last="Stanley">Kaili Stanley</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Beth Israel Medical Center</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Pastores, Gregory" sort="Pastores, Gregory" uniqKey="Pastores G" first="Gregory" last="Pastores">Gregory Pastores</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, New York University School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Sathe, Swati" sort="Sathe, Swati" uniqKey="Sathe S" first="Swati" last="Sathe">Swati Sathe</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, New York University School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Tagliati, Michele" sort="Tagliati, Michele" uniqKey="Tagliati M" first="Michele" last="Tagliati">Michele Tagliati</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>7 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Condefer, Kelly" sort="Condefer, Kelly" uniqKey="Condefer K" first="Kelly" last="Condefer">Kelly Condefer</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Beth Israel Medical Center</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Palmese, Christina" sort="Palmese, Christina" uniqKey="Palmese C" first="Christina" last="Palmese">Christina Palmese</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Beth Israel Medical Center</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Braggemann, Norbert" sort="Braggemann, Norbert" uniqKey="Braggemann N" first="Norbert" last="Braggemann">Norbert Braggemann</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Luebeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Luebeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Roe, A M" sort="Roe, A M" uniqKey="Roe A" first="A. M." last="Roe">A. M. Roe</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Obstetrics and Gynecology, Albert Einstein College of Medicine</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Kornreich, Ruth" sort="Kornreich, Ruth" uniqKey="Kornreich R" first="Ruth" last="Kornreich">Ruth Kornreich</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>13 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>7 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Bressman, Susan" sort="Bressman, Susan" uniqKey="Bressman S" first="Susan" last="Bressman">Susan Bressman</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Beth Israel Medical Center</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Albert Einstein College of Medicine</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">10-0377331</idno><date when="2010">2010</date><idno type="stanalyst">PASCAL 10-0377331 INIST</idno><idno type="RBID">Pascal:10-0377331</idno><idno type="wicri:Area/PascalFrancis/Corpus">000A04</idno><idno type="wicri:Area/PascalFrancis/Curation">002315</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Gaucher Disease Ascertained Through a Parkinson's Center: Imaging and Clinical Characterization</title><author><name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Beth Israel Medical Center</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Albert Einstein College of Medicine</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Luebeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Dhawan, Vijay" sort="Dhawan, Vijay" uniqKey="Dhawan V" first="Vijay" last="Dhawan">Vijay Dhawan</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Feinstein Institute for Medical Research</s1><s2>Manhasset, New York</s2><s3>USA</s3><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Stanley, Kaili" sort="Stanley, Kaili" uniqKey="Stanley K" first="Kaili" last="Stanley">Kaili Stanley</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Beth Israel Medical Center</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Pastores, Gregory" sort="Pastores, Gregory" uniqKey="Pastores G" first="Gregory" last="Pastores">Gregory Pastores</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, New York University School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Sathe, Swati" sort="Sathe, Swati" uniqKey="Sathe S" first="Swati" last="Sathe">Swati Sathe</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, New York University School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Tagliati, Michele" sort="Tagliati, Michele" uniqKey="Tagliati M" first="Michele" last="Tagliati">Michele Tagliati</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>7 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Condefer, Kelly" sort="Condefer, Kelly" uniqKey="Condefer K" first="Kelly" last="Condefer">Kelly Condefer</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Beth Israel Medical Center</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Palmese, Christina" sort="Palmese, Christina" uniqKey="Palmese C" first="Christina" last="Palmese">Christina Palmese</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Beth Israel Medical Center</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Braggemann, Norbert" sort="Braggemann, Norbert" uniqKey="Braggemann N" first="Norbert" last="Braggemann">Norbert Braggemann</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Luebeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Luebeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Roe, A M" sort="Roe, A M" uniqKey="Roe A" first="A. M." last="Roe">A. M. Roe</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Obstetrics and Gynecology, Albert Einstein College of Medicine</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>12 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Kornreich, Ruth" sort="Kornreich, Ruth" uniqKey="Kornreich R" first="Ruth" last="Kornreich">Ruth Kornreich</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>13 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>7 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Bressman, Susan" sort="Bressman, Susan" uniqKey="Bressman S" first="Susan" last="Bressman">Susan Bressman</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Beth Israel Medical Center</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Albert Einstein College of Medicine</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Functional imaging</term><term>Gaucher disease</term><term>Lipids</term><term>Mutation</term><term>Nervous system diseases</term><term>Olfaction</term><term>Parkinson disease</term><term>Sonography</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Sphingolipidose héréditaire de Gaucher</term><term>Maladie de Parkinson</term><term>Pathologie du système nerveux</term><term>Mutation</term><term>Exploration ultrason</term><term>Imagerie fonctionnelle</term><term>Olfaction</term><term>Lipide</term></keywords></textClass></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 cm<sup>2</sup> vs. 0.14 cm<sup>2</sup>, 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.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>25</s2></fA05><fA06><s2>10</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Gaucher Disease Ascertained Through a Parkinson's Center: Imaging and Clinical Characterization</s1></fA08><fA11 i1="01" i2="1"><s1>SAUNDERS-PULLMAN (Rachel)</s1></fA11><fA11 i1="02" i2="1"><s1>HAGENAH (Johann)</s1></fA11><fA11 i1="03" i2="1"><s1>DHAWAN (Vijay)</s1></fA11><fA11 i1="04" i2="1"><s1>STANLEY (Kaili)</s1></fA11><fA11 i1="05" i2="1"><s1>PASTORES (Gregory)</s1></fA11><fA11 i1="06" i2="1"><s1>SATHE (Swati)</s1></fA11><fA11 i1="07" i2="1"><s1>TAGLIATI (Michele)</s1></fA11><fA11 i1="08" i2="1"><s1>CONDEFER (Kelly)</s1></fA11><fA11 i1="09" i2="1"><s1>PALMESE (Christina)</s1></fA11><fA11 i1="10" i2="1"><s1>BRAGGEMANN (Norbert)</s1></fA11><fA11 i1="11" i2="1"><s1>KLEIN (Christine)</s1></fA11><fA11 i1="12" i2="1"><s1>ROE (A. M.)</s1></fA11><fA11 i1="13" i2="1"><s1>KORNREICH (Ruth)</s1></fA11><fA11 i1="14" i2="1"><s1>OZELIUS (Laurie)</s1></fA11><fA11 i1="15" i2="1"><s1>BRESSMAN (Susan)</s1></fA11><fA14 i1="01"><s1>Department of Neurology, Beth Israel Medical Center</s1><s2>New York, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>15 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Neurology, Albert Einstein College of Medicine</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>15 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Neurology, University of Luebeck</s1><s2>Luebeck</s2><s3>DEU</s3><sZ>2 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></fA14><fA14 i1="04"><s1>Feinstein Institute for Medical Research</s1><s2>Manhasset, New York</s2><s3>USA</s3><sZ>3 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Neurology, New York University School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Neurology, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>7 aut.</sZ><sZ>14 aut.</sZ></fA14><fA14 i1="07"><s1>Department of Obstetrics and Gynecology, Albert Einstein College of Medicine</s1><s2>Bronx, New York</s2><s3>USA</s3><sZ>12 aut.</sZ></fA14><fA14 i1="08"><s1>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine</s1><s2>New York, New York</s2><s3>USA</s3><sZ>13 aut.</sZ></fA14><fA20><s1>1364-1372</s1></fA20><fA21><s1>2010</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000194762830060</s5></fA43><fA44><s0>0000</s0><s1>© 2010 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>55 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>10-0377331</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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>, 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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17G</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Sphingolipidose héréditaire de Gaucher</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Gaucher disease</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Esfingolipidosis hereditaria Gaucher</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Maladie de Parkinson</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Parkinson disease</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Parkinson enfermedad</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Mutación</s0><s5>09</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Exploration ultrason</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Sonography</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Exploración ultrasonido</s0><s5>10</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Imagerie fonctionnelle</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Functional imaging</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Imaginería funcional</s0><s5>11</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Olfaction</s0><s5>12</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Olfaction</s0><s5>12</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Olfación</s0><s5>12</s5></fC03><fC03 i1="08" i2="X" l="FRE"><s0>Lipide</s0><s5>78</s5></fC03><fC03 i1="08" i2="X" l="ENG"><s0>Lipids</s0><s5>78</s5></fC03><fC03 i1="08" i2="X" l="SPA"><s0>Lípido</s0><s5>78</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Enzymopathie</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Enzymopathy</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Enzimopatía</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Lipoïdose</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Lipoidosis</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Lipoidosis</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Maladie héréditaire</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Genetic disease</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0><s5>40</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Maladie métabolique</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Metabolic diseases</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Metabolismo patología</s0><s5>41</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>42</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>42</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>42</s5></fC07><fC07 i1="07" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0><s5>44</s5></fC07><fC07 i1="07" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>44</s5></fC07><fC07 i1="07" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>44</s5></fC07><fC07 i1="08" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>45</s5></fC07><fC07 i1="08" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>45</s5></fC07><fC07 i1="08" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>45</s5></fC07><fN21><s1>242</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist></record>Pour manipuler ce document sous Unix (Dilib)
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