Impaired Sense of Smell and Color Discrimination in Monogenic and Idiopathic Parkinson's Disease
Identifieur interne : 002529 ( PascalFrancis/Curation ); précédent : 002528; suivant : 002530Impaired Sense of Smell and Color Discrimination in Monogenic and Idiopathic Parkinson's Disease
Auteurs : Lena Kertelge [Allemagne] ; Norbert Brüggemann [Allemagne] ; Alexander Schmidt [Allemagne] ; Vera Tadic [Allemagne] ; Claudia Wisse [Allemagne] ; Sylwia Dankert [Allemagne] ; Laura Drude [Allemagne] ; Joyce Van Der Vegt [Pays-Bas, Allemagne] ; Hartwig Siebner [Allemagne] ; Heike Pawlack [Allemagne] ; Peter P. Pramstaller [Italie] ; Maria Isabel Behrens [Chili] ; Alfredo Ramirez [Allemagne] ; Dirk Reichel [Allemagne] ; Carsten Buhmann [Allemagne] ; Johann Hagenah [Allemagne] ; Christine Klein [Allemagne] ; Katja Lohmann [Allemagne] ; Meike Kasten [Allemagne]Source :
- Movement disorders [ 0885-3185 ] ; 2010.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Olfaction is typically impaired in idiopathic Parkinson's disease (IPD), but its role is uncertain in monogenic PD. Diminished color discrimination has been suggested as another early sign of dopaminergic dysfunction but not been systematically studied. Furthermore, it is unknown whether both deficits are linked. We examined 100 patients with IPD, 27 manifesting mutation carriers (MC), 20 nonmanifesting mutation carriers (NMC), and 110 controls. Participants underwent a standardized neurological examination, the University of Pennsylvania Smell Identification Test (UPSIT), the Farnsworth-Munsell (FM) color discrimination test, and mutation testing in known PD genes. The monogenic group consisted of 15 Parkin (6MC/9NMC), 17 PINK1 (10MC/7NMC), 8 LRRK2 (4MC/4NMC), 3 SNCA (MC), and 4 ATP13A2 (MC) carriers. Olfaction was most impaired in IPD (UPSIT percentiles 10.1 ± 13.5) compared with all other groups (MC 13.8 ± 11.9, NMC 19.6 ± 13.0, controls 33.8 ± 22.4). Within MC, carriers of two mutations in Parkin and PINK1 showed higher UPSIT percentiles than LRRK2 and SNCA carriers. Color discrimination was reduced in IPD (FM total error score 134.8 ± 92.7). In MC (122.4 ± 142.4), the reduction was most pronounced in LRRK2, NMC (80.0 ± 38.8) were comparable with controls (97.2 ± 61.1). UPSIT and FM scores were correlated in the control (r = -0.305; P = 0.002) and the IPD group (r = -0.303; P = 0.006) but not among mutation carriers. First, we confirmed olfaction and color discrimination to be impaired in IPD and suggest olfaction to be a premotor sign. Second, olfaction differed between carriers with one and two mutations in Parkin/PINK1-associated PD. Third, olfaction and color discrimination impairment do not necessarily evolve in parallel.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Impaired Sense of Smell and Color Discrimination in Monogenic and Idiopathic Parkinson's Disease</title><author><name sortKey="Kertelge, Lena" sort="Kertelge, Lena" uniqKey="Kertelge L" first="Lena" last="Kertelge">Lena Kertelge</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Psychiatry and Psychotherapy, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 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the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Dankert, Sylwia" sort="Dankert, Sylwia" uniqKey="Dankert S" first="Sylwia" last="Dankert">Sylwia Dankert</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Drude, Laura" sort="Drude, Laura" uniqKey="Drude L" first="Laura" last="Drude">Laura Drude</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Van Der Vegt, Joyce" sort="Van Der Vegt, Joyce" uniqKey="Van Der Vegt J" first="Joyce" last="Van Der Vegt">Joyce Van Der Vegt</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>8 aut.</sZ></inist:fA14><country>Pays-Bas</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Kiel</s1><s3>DEU</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Siebner, Hartwig" sort="Siebner, Hartwig" uniqKey="Siebner H" first="Hartwig" last="Siebner">Hartwig Siebner</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Kiel</s1><s3>DEU</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Pawlack, Heike" sort="Pawlack, Heike" uniqKey="Pawlack H" first="Heike" last="Pawlack">Heike Pawlack</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 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Pramstaller</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>EURAC Research, Institute of Genetic Medicine</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>11 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Isabel Behrens, Maria" sort="Isabel Behrens, Maria" uniqKey="Isabel Behrens M" first="Maria" last="Isabel Behrens">Maria Isabel Behrens</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology and Neurosurgery, University of Santiago</s1><s3>CHL</s3><sZ>12 aut.</sZ></inist:fA14><country>Chili</country></affiliation></author><author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 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University of Hamburg</s1><s3>DEU</s3><sZ>15 aut.</sZ></inist:fA14><country>Allemagne</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="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 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="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Psychiatry and Psychotherapy, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">10-0512959</idno><date when="2010">2010</date><idno type="stanalyst">PASCAL 10-0512959 INIST</idno><idno type="RBID">Pascal:10-0512959</idno><idno type="wicri:Area/PascalFrancis/Corpus">000790</idno><idno type="wicri:Area/PascalFrancis/Curation">002529</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Impaired Sense of Smell and Color Discrimination in Monogenic and Idiopathic Parkinson's Disease</title><author><name sortKey="Kertelge, Lena" sort="Kertelge, Lena" uniqKey="Kertelge L" first="Lena" last="Kertelge">Lena Kertelge</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Psychiatry and Psychotherapy, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Wisse, Claudia" sort="Wisse, Claudia" uniqKey="Wisse C" first="Claudia" last="Wisse">Claudia Wisse</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Dankert, Sylwia" sort="Dankert, Sylwia" uniqKey="Dankert S" first="Sylwia" last="Dankert">Sylwia Dankert</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Drude, Laura" sort="Drude, Laura" uniqKey="Drude L" first="Laura" last="Drude">Laura Drude</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Van Der Vegt, Joyce" sort="Van Der Vegt, Joyce" uniqKey="Van Der Vegt J" first="Joyce" last="Van Der Vegt">Joyce Van Der Vegt</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>8 aut.</sZ></inist:fA14><country>Pays-Bas</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Kiel</s1><s3>DEU</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Siebner, Hartwig" sort="Siebner, Hartwig" uniqKey="Siebner H" first="Hartwig" last="Siebner">Hartwig Siebner</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Kiel</s1><s3>DEU</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Pawlack, Heike" sort="Pawlack, Heike" uniqKey="Pawlack H" first="Heike" last="Pawlack">Heike Pawlack</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>EURAC Research, Institute of Genetic Medicine</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>11 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Isabel Behrens, Maria" sort="Isabel Behrens, Maria" uniqKey="Isabel Behrens M" first="Maria" last="Isabel Behrens">Maria Isabel Behrens</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology and Neurosurgery, University of Santiago</s1><s3>CHL</s3><sZ>12 aut.</sZ></inist:fA14><country>Chili</country></affiliation></author><author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Reichel, Dirk" sort="Reichel, Dirk" uniqKey="Reichel D" first="Dirk" last="Reichel">Dirk Reichel</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Buhmann, Carsten" sort="Buhmann, Carsten" uniqKey="Buhmann C" first="Carsten" last="Buhmann">Carsten Buhmann</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neurology, University of Hamburg</s1><s3>DEU</s3><sZ>15 aut.</sZ></inist:fA14><country>Allemagne</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="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 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="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Psychiatry and Psychotherapy, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Allemagne</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>Color</term><term>Discrimination</term><term>Idiopathic</term><term>Nervous system diseases</term><term>Parkinson disease</term><term>Parkinsonism</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term><term>Parkinsonisme</term><term>Pathologie du système nerveux</term><term>Couleur</term><term>Discrimination</term><term>Idiopathique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Olfaction is typically impaired in idiopathic Parkinson's disease (IPD), but its role is uncertain in monogenic PD. Diminished color discrimination has been suggested as another early sign of dopaminergic dysfunction but not been systematically studied. Furthermore, it is unknown whether both deficits are linked. We examined 100 patients with IPD, 27 manifesting mutation carriers (MC), 20 nonmanifesting mutation carriers (NMC), and 110 controls. Participants underwent a standardized neurological examination, the University of Pennsylvania Smell Identification Test (UPSIT), the Farnsworth-Munsell (FM) color discrimination test, and mutation testing in known PD genes. The monogenic group consisted of 15 Parkin (6MC/9NMC), 17 PINK1 (10MC/7NMC), 8 LRRK2 (4MC/4NMC), 3 SNCA (MC), and 4 ATP13A2 (MC) carriers. Olfaction was most impaired in IPD (UPSIT percentiles 10.1 ± 13.5) compared with all other groups (MC 13.8 ± 11.9, NMC 19.6 ± 13.0, controls 33.8 ± 22.4). Within MC, carriers of two mutations in Parkin and PINK1 showed higher UPSIT percentiles than LRRK2 and SNCA carriers. Color discrimination was reduced in IPD (FM total error score 134.8 ± 92.7). In MC (122.4 ± 142.4), the reduction was most pronounced in LRRK2, NMC (80.0 ± 38.8) were comparable with controls (97.2 ± 61.1). UPSIT and FM scores were correlated in the control (r = -0.305; P = 0.002) and the IPD group (r = -0.303; P = 0.006) but not among mutation carriers. First, we confirmed olfaction and color discrimination to be impaired in IPD and suggest olfaction to be a premotor sign. Second, olfaction differed between carriers with one and two mutations in Parkin/PINK1-associated PD. Third, olfaction and color discrimination impairment do not necessarily evolve in parallel.</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>15</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Impaired Sense of Smell and Color Discrimination in Monogenic and Idiopathic Parkinson's Disease</s1></fA08><fA11 i1="01" i2="1"><s1>KERTELGE (Lena)</s1></fA11><fA11 i1="02" i2="1"><s1>BRÜGGEMANN (Norbert)</s1></fA11><fA11 i1="03" i2="1"><s1>SCHMIDT (Alexander)</s1></fA11><fA11 i1="04" i2="1"><s1>TADIC (Vera)</s1></fA11><fA11 i1="05" i2="1"><s1>WISSE (Claudia)</s1></fA11><fA11 i1="06" i2="1"><s1>DANKERT (Sylwia)</s1></fA11><fA11 i1="07" i2="1"><s1>DRUDE (Laura)</s1></fA11><fA11 i1="08" i2="1"><s1>VAN DER VEGT (Joyce)</s1></fA11><fA11 i1="09" i2="1"><s1>SIEBNER (Hartwig)</s1></fA11><fA11 i1="10" i2="1"><s1>PAWLACK (Heike)</s1></fA11><fA11 i1="11" i2="1"><s1>PRAMSTALLER (Peter P.)</s1></fA11><fA11 i1="12" i2="1"><s1>ISABEL BEHRENS (Maria)</s1></fA11><fA11 i1="13" i2="1"><s1>RAMIREZ (Alfredo)</s1></fA11><fA11 i1="14" i2="1"><s1>REICHEL (Dirk)</s1></fA11><fA11 i1="15" i2="1"><s1>BUHMANN (Carsten)</s1></fA11><fA11 i1="16" i2="1"><s1>HAGENAH (Johann)</s1></fA11><fA11 i1="17" i2="1"><s1>KLEIN (Christine)</s1></fA11><fA11 i1="18" i2="1"><s1>LOHMANN (Katja)</s1></fA11><fA11 i1="19" i2="1"><s1>KASTEN (Meike)</s1></fA11><fA14 i1="01"><s1>Department of Psychiatry and Psychotherapy, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>19 aut.</sZ></fA14><fA14 i1="02"><s1>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</s1><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Neurology, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>8 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Neurology, University of Kiel</s1><s3>DEU</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></fA14><fA14 i1="05"><s1>EURAC Research, Institute of Genetic Medicine</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>11 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Neurology and Neurosurgery, University of Santiago</s1><s3>CHL</s3><sZ>12 aut.</sZ></fA14><fA14 i1="07"><s1>Department of Neurology, University of Hamburg</s1><s3>DEU</s3><sZ>15 aut.</sZ></fA14><fA20><s1>2665-2669</s1></fA20><fA21><s1>2010</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000191411680280</s5></fA43><fA44><s0>0000</s0><s1>© 2010 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>15 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>10-0512959</s0></fA47><fA60><s1>P</s1><s3>CC</s3></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>Olfaction is typically impaired in idiopathic Parkinson's disease (IPD), but its role is uncertain in monogenic PD. Diminished color discrimination has been suggested as another early sign of dopaminergic dysfunction but not been systematically studied. Furthermore, it is unknown whether both deficits are linked. We examined 100 patients with IPD, 27 manifesting mutation carriers (MC), 20 nonmanifesting mutation carriers (NMC), and 110 controls. Participants underwent a standardized neurological examination, the University of Pennsylvania Smell Identification Test (UPSIT), the Farnsworth-Munsell (FM) color discrimination test, and mutation testing in known PD genes. The monogenic group consisted of 15 Parkin (6MC/9NMC), 17 PINK1 (10MC/7NMC), 8 LRRK2 (4MC/4NMC), 3 SNCA (MC), and 4 ATP13A2 (MC) carriers. Olfaction was most impaired in IPD (UPSIT percentiles 10.1 ± 13.5) compared with all other groups (MC 13.8 ± 11.9, NMC 19.6 ± 13.0, controls 33.8 ± 22.4). Within MC, carriers of two mutations in Parkin and PINK1 showed higher UPSIT percentiles than LRRK2 and SNCA carriers. Color discrimination was reduced in IPD (FM total error score 134.8 ± 92.7). In MC (122.4 ± 142.4), the reduction was most pronounced in LRRK2, NMC (80.0 ± 38.8) were comparable with controls (97.2 ± 61.1). UPSIT and FM scores were correlated in the control (r = -0.305; P = 0.002) and the IPD group (r = -0.303; P = 0.006) but not among mutation carriers. First, we confirmed olfaction and color discrimination to be impaired in IPD and suggest olfaction to be a premotor sign. Second, olfaction differed between carriers with one and two mutations in Parkin/PINK1-associated PD. Third, olfaction and color discrimination impairment do not necessarily evolve in parallel.</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>Maladie de Parkinson</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Parkinson disease</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Parkinson enfermedad</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Parkinsonisme</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Parkinsonism</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Parkinson síndrome</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>Couleur</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Color</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Color</s0><s5>09</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Discrimination</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Discrimination</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Discriminación</s0><s5>10</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Idiopathique</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Idiopathic</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Idiopático</s0><s5>11</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>Syndrome extrapyramidal</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>40</s5></fC07><fN21><s1>347</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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