Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization
Identifieur interne : 001C70 ( Main/Exploration ); précédent : 001C69; suivant : 001C71Gaucher 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 Brüggemann [Allemagne] ; Christine Klein [Allemagne] ; Am Roe [États-Unis] ; Ruth Kornreich [États-Unis] ; Laurie Ozelius [États-Unis] ; Susan Bressman [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-07-30.
English descriptors
- KwdEn :
- Adult, Aged, Dihydroxyphenylalanine (analogs & derivatives), Dihydroxyphenylalanine (diagnostic use), Female, Fluorodeoxyglucose F18 (diagnostic use), Gaucher Disease (complications), Gaucher Disease (diagnosis), Gaucher Disease (genetics), Gaucher disease, Glucosylceramidase (genetics), Humans, Male, Middle Aged, Mutation (genetics), Neuropsychological Tests, Olfaction Disorders (etiology), Parkinson Disease (complications), Parkinson Disease (diagnosis), Parkinson's disease, Phenotype, Positron-Emission Tomography (methods), Ultrasonography, Doppler, Transcranial (methods), functional imaging, glucocerebrosidase mutations transcranial sonography, olfaction.
- MESH :
- chemical , analogs & derivatives : Dihydroxyphenylalanine.
- chemical , diagnostic use : Dihydroxyphenylalanine, Fluorodeoxyglucose F18.
- complications : Gaucher Disease, Parkinson Disease.
- diagnosis : Gaucher Disease, Parkinson Disease.
- etiology : Olfaction Disorders.
- genetics : Gaucher Disease, Glucosylceramidase, Mutation.
- methods : Positron-Emission Tomography, Ultrasonography, Doppler, Transcranial.
- Adult, Aged, Female, Humans, Male, Middle Aged, Neuropsychological Tests, Phenotype.
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
Url:
- https://api.istex.fr/document/4E2ADF6717BB9FB387396CA11010B3F68C714729/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2914177
DOI: 10.1002/mds.23046
Affiliations:
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disease ascertained through a Parkinson's center: Imaging and clinical characterization</title><author><name sortKey="Saunders Ullman, Rachel" sort="Saunders Ullman, Rachel" uniqKey="Saunders Ullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Beth Israel Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Dhawan, Vijay" sort="Dhawan, Vijay" uniqKey="Dhawan V" first="Vijay" last="Dhawan">Vijay Dhawan</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Feinstein Institute for Medical Research, Manhasset, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Stanley, Kaili" sort="Stanley, Kaili" uniqKey="Stanley K" first="Kaili" last="Stanley">Kaili Stanley</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Beth Israel Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Pastores, Gregory" sort="Pastores, Gregory" uniqKey="Pastores G" first="Gregory" last="Pastores">Gregory Pastores</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, New York University School of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Sathe, Swati" sort="Sathe, Swati" uniqKey="Sathe S" first="Swati" last="Sathe">Swati Sathe</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, New York University School of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Tagliati, Michele" sort="Tagliati, Michele" uniqKey="Tagliati M" first="Michele" last="Tagliati">Michele Tagliati</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mount Sinai School of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Condefer, Kelly" sort="Condefer, Kelly" uniqKey="Condefer K" first="Kelly" last="Condefer">Kelly Condefer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Beth Israel Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Palmese, Christina" sort="Palmese, Christina" uniqKey="Palmese C" first="Christina" last="Palmese">Christina Palmese</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Beth Israel Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Roe, Am" sort="Roe, Am" uniqKey="Roe A" first="Am" last="Roe">Am Roe</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Kornreich, Ruth" sort="Kornreich, Ruth" uniqKey="Kornreich R" first="Ruth" last="Kornreich">Ruth Kornreich</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mount Sinai School of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Bressman, Susan" sort="Bressman, Susan" uniqKey="Bressman S" first="Susan" last="Bressman">Susan Bressman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Beth Israel Medical Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></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>Adult</term><term>Aged</term><term>Dihydroxyphenylalanine (analogs & derivatives)</term><term>Dihydroxyphenylalanine (diagnostic use)</term><term>Female</term><term>Fluorodeoxyglucose F18 (diagnostic use)</term><term>Gaucher Disease (complications)</term><term>Gaucher Disease (diagnosis)</term><term>Gaucher Disease (genetics)</term><term>Gaucher disease</term><term>Glucosylceramidase (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Neuropsychological Tests</term><term>Olfaction Disorders (etiology)</term><term>Parkinson Disease (complications)</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson's disease</term><term>Phenotype</term><term>Positron-Emission Tomography (methods)</term><term>Ultrasonography, Doppler, Transcranial (methods)</term><term>functional imaging</term><term>glucocerebrosidase mutations transcranial sonography</term><term>olfaction</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analogs & derivatives" xml:lang="en"><term>Dihydroxyphenylalanine</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Dihydroxyphenylalanine</term><term>Fluorodeoxyglucose F18</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Gaucher Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Gaucher Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Olfaction Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gaucher Disease</term><term>Glucosylceramidase</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Positron-Emission Tomography</term><term>Ultrasonography, Doppler, Transcranial</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neuropsychological Tests</term><term>Phenotype</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><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 Ullman, Rachel" sort="Saunders Ullman, Rachel" uniqKey="Saunders Ullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name></region><name sortKey="Bressman, Susan" sort="Bressman, Susan" uniqKey="Bressman S" first="Susan" last="Bressman">Susan Bressman</name><name sortKey="Bressman, Susan" sort="Bressman, Susan" uniqKey="Bressman S" first="Susan" last="Bressman">Susan Bressman</name><name sortKey="Condefer, Kelly" sort="Condefer, Kelly" uniqKey="Condefer K" first="Kelly" last="Condefer">Kelly Condefer</name><name sortKey="Dhawan, Vijay" sort="Dhawan, Vijay" uniqKey="Dhawan V" first="Vijay" last="Dhawan">Vijay Dhawan</name><name sortKey="Kornreich, Ruth" sort="Kornreich, Ruth" uniqKey="Kornreich R" first="Ruth" last="Kornreich">Ruth Kornreich</name><name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name><name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name><name sortKey="Palmese, Christina" sort="Palmese, Christina" uniqKey="Palmese C" first="Christina" last="Palmese">Christina Palmese</name><name sortKey="Pastores, Gregory" sort="Pastores, Gregory" uniqKey="Pastores G" first="Gregory" last="Pastores">Gregory Pastores</name><name sortKey="Roe, Am" sort="Roe, Am" uniqKey="Roe A" first="Am" last="Roe">Am Roe</name><name sortKey="Sathe, Swati" sort="Sathe, Swati" uniqKey="Sathe S" first="Swati" last="Sathe">Swati Sathe</name><name sortKey="Saunders Ullman, Rachel" sort="Saunders Ullman, Rachel" uniqKey="Saunders Ullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name><name sortKey="Stanley, Kaili" sort="Stanley, Kaili" uniqKey="Stanley K" first="Kaili" last="Stanley">Kaili Stanley</name><name sortKey="Tagliati, Michele" sort="Tagliati, Michele" uniqKey="Tagliati M" first="Michele" last="Tagliati">Michele Tagliati</name></country><country name="Allemagne"><noRegion><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name></noRegion><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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