Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease
Identifieur interne : 001978 ( Main/Corpus ); précédent : 001977; suivant : 001979Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease
Auteurs : Lena Kertelge ; Norbert Brüggemann ; Alexander Schmidt ; Vera Tadic ; Claudia Wisse ; Sylwia Dankert ; Laura Drude ; Joyce Van Der Vegt ; Hartwig Siebner ; Heike Pawlack ; Peter P. Pramstaller ; Maria Isabel Behrens ; Alfredo Ramirez ; Dirk Reichel ; Carsten Buhmann ; Johann Hagenah ; Christine Klein ; Katja Lohmann ; Meike KastenSource :
- Movement Disorders [ 0885-3185 ] ; 2010-11-15.
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. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23272
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Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Buhmann, Carsten" sort="Buhmann, Carsten" uniqKey="Buhmann C" first="Carsten" last="Buhmann">Carsten Buhmann</name><affiliation><mods:affiliation>Department of Neurology, University of Hamburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name><affiliation><mods:affiliation>Department of Psychiatry and Psychotherapy, University of Luebeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:E25F1E24D7DBFA30E3CD77702F4769C3C756B8C9</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1002/mds.23272</idno><idno 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Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Wisse, Claudia" sort="Wisse, Claudia" uniqKey="Wisse C" first="Claudia" last="Wisse">Claudia Wisse</name><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Dankert, Sylwia" sort="Dankert, Sylwia" uniqKey="Dankert S" first="Sylwia" last="Dankert">Sylwia Dankert</name><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Drude, Laura" sort="Drude, Laura" uniqKey="Drude L" first="Laura" last="Drude">Laura Drude</name><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></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><mods:affiliation>Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherland</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, University of Kiel, Germany</mods:affiliation></affiliation></author><author><name sortKey="Siebner, Hartwig" sort="Siebner, Hartwig" uniqKey="Siebner H" first="Hartwig" last="Siebner">Hartwig Siebner</name><affiliation><mods:affiliation>Department of Neurology, University of Kiel, Germany</mods:affiliation></affiliation></author><author><name sortKey="Pawlack, Heike" sort="Pawlack, Heike" uniqKey="Pawlack H" first="Heike" last="Pawlack">Heike Pawlack</name><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></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><mods:affiliation>EURAC Research, Institute of Genetic Medicine, Bolzano, Italy</mods:affiliation></affiliation></author><author><name sortKey="Behrens, Maria Isabel" sort="Behrens, Maria Isabel" uniqKey="Behrens M" first="Maria Isabel" last="Behrens">Maria Isabel Behrens</name><affiliation><mods:affiliation>Department of Neurology and Neurosurgery, University of Santiago, Chile</mods:affiliation></affiliation></author><author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Reichel, Dirk" sort="Reichel, Dirk" uniqKey="Reichel D" first="Dirk" last="Reichel">Dirk Reichel</name><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Buhmann, Carsten" sort="Buhmann, Carsten" uniqKey="Buhmann C" first="Carsten" last="Buhmann">Carsten Buhmann</name><affiliation><mods:affiliation>Department of Neurology, University of Hamburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name><affiliation><mods:affiliation>Department of Psychiatry and Psychotherapy, University of Luebeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-11-15">2010-11-15</date><biblScope unit="volume">25</biblScope><biblScope unit="issue">15</biblScope><biblScope unit="page" from="2665">2665</biblScope><biblScope unit="page" to="2669">2669</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">E25F1E24D7DBFA30E3CD77702F4769C3C756B8C9</idno><idno type="DOI">10.1002/mds.23272</idno><idno type="ArticleID">MDS23272</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkinson's disease</term><term>color discrimination</term><term>monogenic parkinsonism</term><term>sense of smell</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2010 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Lena Kertelge BS</name><affiliations><json:string>Department of Psychiatry and Psychotherapy, University of Luebeck, Germany</json:string><json:string>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Norbert Brüggemann MD</name><affiliations><json:string>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Alexander Schmidt MD</name><affiliations><json:string>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Vera Tadic MD</name><affiliations><json:string>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Claudia Wisse BS</name><affiliations><json:string>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Sylwia Dankert</name><affiliations><json:string>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Laura Drude BS</name><affiliations><json:string>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Joyce van der Vegt MD</name><affiliations><json:string>Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherland</json:string><json:string>Department of Neurology, University of Kiel, Germany</json:string></affiliations></json:item><json:item><name>Hartwig Siebner MD</name><affiliations><json:string>Department of Neurology, University of Kiel, Germany</json:string></affiliations></json:item><json:item><name>Heike Pawlack BS</name><affiliations><json:string>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Peter P. Pramstaller MD</name><affiliations><json:string>EURAC Research, Institute of Genetic Medicine, Bolzano, Italy</json:string></affiliations></json:item><json:item><name>Maria Isabel Behrens MD, PhD</name><affiliations><json:string>Department of Neurology and Neurosurgery, University of Santiago, Chile</json:string></affiliations></json:item><json:item><name>Alfredo Ramirez MD</name><affiliations><json:string>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Dirk Reichel MD</name><affiliations><json:string>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Carsten Buhmann MD</name><affiliations><json:string>Department of Neurology, University of Hamburg, Germany</json:string></affiliations></json:item><json:item><name>Johann Hagenah MD</name><affiliations><json:string>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Christine Klein MD</name><affiliations><json:string>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Katja Lohmann PhD</name><affiliations><json:string>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</json:string></affiliations></json:item><json:item><name>Meike Kasten MD</name><affiliations><json:string>Department of Psychiatry and Psychotherapy, University of Luebeck, Germany</json:string><json:string>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>sense of smell</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>color discrimination</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>monogenic parkinsonism</value></json:item></subject><articleId><json:string>MDS23272</json:string></articleId><language><json:string>eng</json:string></language><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. © 2010 Movement Disorder Society</abstract><qualityIndicators><score>8</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>4</keywordCount><abstractCharCount>1793</abstractCharCount><pdfWordCount>23400</pdfWordCount><pdfCharCount>153211</pdfCharCount><pdfPageCount>37</pdfPageCount><abstractWordCount>275</abstractWordCount></qualityIndicators><title>Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease</title><genre><json:string>brief communication</json:string></genre><host><volume>25</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>5</total><last>2669</last><first>2665</first></pages><issn><json:string>0885-3185</json:string></issn><issue>15</issue><subject><json:item><value>Brief 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uri="https://api.istex.fr/document/E25F1E24D7DBFA30E3CD77702F4769C3C756B8C9/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2010</date></publicationStmt><notesStmt><note type="content">*Potential conflict of interest: The authors do not have any conflict of interest.</note><note>EU grant GENEPARK - No. EU‐LSHB‐CT‐2006‐037544;</note><note>The NGFNplus - No. PNP‐01GS08135‐3;</note><note>The Volkswagen Foundation</note><note>The Hermann and Lilly Schilling Foundation</note><note>The Hilde Ulrichs Foundation</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease</title><author><persName><forename type="first">Lena</forename><surname>Kertelge</surname></persName><roleName type="degree">BS</roleName><affiliation>Department of Psychiatry and Psychotherapy, University of Luebeck, Germany</affiliation><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation></author><author><persName><forename type="first">Norbert</forename><surname>Brüggemann</surname></persName><roleName type="degree">MD</roleName><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation></author><author><persName><forename type="first">Alexander</forename><surname>Schmidt</surname></persName><roleName type="degree">MD</roleName><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation></author><author><persName><forename type="first">Vera</forename><surname>Tadic</surname></persName><roleName type="degree">MD</roleName><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation></author><author><persName><forename type="first">Claudia</forename><surname>Wisse</surname></persName><roleName type="degree">BS</roleName><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation></author><author><persName><forename type="first">Sylwia</forename><surname>Dankert</surname></persName><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation></author><author><persName><forename type="first">Laura</forename><surname>Drude</surname></persName><roleName type="degree">BS</roleName><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation></author><author><persName><forename type="first">Joyce</forename><surname>van der Vegt</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherland</affiliation><affiliation>Department of Neurology, University of Kiel, Germany</affiliation></author><author><persName><forename type="first">Hartwig</forename><surname>Siebner</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, University of Kiel, Germany</affiliation></author><author><persName><forename type="first">Heike</forename><surname>Pawlack</surname></persName><roleName type="degree">BS</roleName><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation></author><author><persName><forename type="first">Peter P.</forename><surname>Pramstaller</surname></persName><roleName type="degree">MD</roleName><affiliation>EURAC Research, Institute of Genetic Medicine, Bolzano, Italy</affiliation></author><author><persName><forename type="first">Maria Isabel</forename><surname>Behrens</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Department of Neurology and Neurosurgery, University of Santiago, Chile</affiliation></author><author><persName><forename type="first">Alfredo</forename><surname>Ramirez</surname></persName><roleName type="degree">MD</roleName><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation></author><author><persName><forename type="first">Dirk</forename><surname>Reichel</surname></persName><roleName type="degree">MD</roleName><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation></author><author><persName><forename type="first">Carsten</forename><surname>Buhmann</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, University of Hamburg, Germany</affiliation></author><author><persName><forename type="first">Johann</forename><surname>Hagenah</surname></persName><roleName type="degree">MD</roleName><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation></author><author><persName><forename type="first">Christine</forename><surname>Klein</surname></persName><roleName type="degree">MD</roleName><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation></author><author><persName><forename type="first">Katja</forename><surname>Lohmann</surname></persName><roleName type="degree">PhD</roleName><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation></author><author><persName><forename type="first">Meike</forename><surname>Kasten</surname></persName><roleName type="degree">MD</roleName><note type="correspondence"><p>Correspondence: Department of Psychiatry and Psychotherapy, University of Luebeck; Ratzeburger Allee 160, 23538 Luebeck, Germany</p></note><affiliation>Department of Psychiatry and Psychotherapy, University of Luebeck, Germany</affiliation><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-11-15"></date><biblScope unit="volume">25</biblScope><biblScope unit="issue">15</biblScope><biblScope unit="page" from="2665">2665</biblScope><biblScope unit="page" to="2669">2669</biblScope></imprint></monogr><idno type="istex">E25F1E24D7DBFA30E3CD77702F4769C3C756B8C9</idno><idno type="DOI">10.1002/mds.23272</idno><idno type="ArticleID">MDS23272</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2010</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>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. © 2010 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson's disease</term></item><item><term>sense of smell</term></item><item><term>color discrimination</term></item><item><term>monogenic parkinsonism</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2009-11-12">Received</change><change when="2010-04-30">Registration</change><change when="2010-11-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/E25F1E24D7DBFA30E3CD77702F4769C3C756B8C9/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="150"><doi origin="wiley" registered="yes">10.1002/mds.v25:15</doi><numberingGroup><numbering type="journalVolume" number="25">25</numbering><numbering type="journalIssue">15</numbering></numberingGroup><coverDate startDate="2010-11-15">15 November 2010</coverDate></publicationMeta><publicationMeta level="unit" type="shortCommunication" position="280" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23272</doi><idGroup><id type="unit" value="MDS23272"></id></idGroup><countGroup><count type="pageTotal" number="5"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Report</title></titleGroup><copyright ownership="thirdParty">Copyright © 2010 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2009-11-12"></event><event type="manuscriptRevised" date="2010-03-09"></event><event 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href="file:MDS.MDS23272.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="15"></count><count type="wordTotal" number="3925"></count></countGroup><titleGroup><title type="main" xml:lang="en">Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease<link href="#fn1"></link></title><title type="short" xml:lang="en">Olfaction and Color Discrimination in PD</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Lena</givenNames><familyName>Kertelge</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Norbert</givenNames><familyName>Brüggemann</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Alexander</givenNames><familyName>Schmidt</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Vera</givenNames><familyName>Tadic</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Claudia</givenNames><familyName>Wisse</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Sylwia</givenNames><familyName>Dankert</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Laura</givenNames><familyName>Drude</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af3 #af4"><personName><givenNames>Joyce</givenNames><familyName>van der Vegt</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Hartwig</givenNames><familyName>Siebner</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Heike</givenNames><familyName>Pawlack</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Peter P.</givenNames><familyName>Pramstaller</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Maria Isabel</givenNames><familyName>Behrens</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Alfredo</givenNames><familyName>Ramirez</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au14" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Dirk</givenNames><familyName>Reichel</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au15" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Carsten</givenNames><familyName>Buhmann</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au16" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Johann</givenNames><familyName>Hagenah</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au17" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Christine</givenNames><familyName>Klein</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au18" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Katja</givenNames><familyName>Lohmann</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au19" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Meike</givenNames><familyName>Kasten</familyName><degrees>MD</degrees></personName><contactDetails><email normalForm="meike.kasten@psychiatrie.uk-sh.de">meike.kasten@psychiatrie.uk‐sh.de</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="DE" type="organization"><unparsedAffiliation>Department of Psychiatry and Psychotherapy, University of Luebeck, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="DE" type="organization"><unparsedAffiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="NL" type="organization"><unparsedAffiliation>Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherland</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, University of Kiel, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="IT" type="organization"><unparsedAffiliation>EURAC Research, Institute of Genetic Medicine, Bolzano, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="CL" type="organization"><unparsedAffiliation>Department of Neurology and Neurosurgery, University of Santiago, Chile</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, University of Hamburg, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2">sense of smell</keyword><keyword xml:id="kwd3">color discrimination</keyword><keyword xml:id="kwd4">monogenic parkinsonism</keyword></keywordGroup><fundingInfo><fundingAgency>EU grant GENEPARK</fundingAgency><fundingNumber>EU‐LSHB‐CT‐2006‐037544</fundingNumber></fundingInfo><fundingInfo><fundingAgency>The NGFNplus</fundingAgency><fundingNumber>PNP‐01GS08135‐3</fundingNumber></fundingInfo><fundingInfo><fundingAgency>The Volkswagen Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>The Hermann and Lilly Schilling Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>The Hilde Ulrichs Foundation</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>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 <i>Parkin</i> (6MC/9NMC), 17 <i>PINK1</i> (10MC/7NMC), 8 <i>LRRK2</i> (4MC/4NMC), 3 <i>SNCA</i> (MC), and 4 <i>ATP13A2</i> (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 <i>Parkin</i> and <i>PINK1</i> showed higher UPSIT percentiles than <i>LRRK2</i> and <i>SNCA</i> 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 <i>LRRK2</i>, NMC (80.0 ± 38.8) were comparable with controls (97.2 ± 61.1). UPSIT and FM scores were correlated in the control (<i>r</i> = −0.305; <i>P</i> = 0.002) and the IPD group (<i>r</i> = −0.303; <i>P</i> = 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 <i>Parkin</i>/<i>PINK1</i>‐associated PD. Third, olfaction and color discrimination impairment do not necessarily evolve in parallel. © 2010 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: The authors do not have any conflict of interest.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Olfaction and Color Discrimination in PD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease</title></titleInfo><name type="personal"><namePart type="given">Lena</namePart><namePart type="family">Kertelge</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of 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type="given">Vera</namePart><namePart type="family">Tadic</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Claudia</namePart><namePart type="family">Wisse</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sylwia</namePart><namePart type="family">Dankert</namePart><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Laura</namePart><namePart type="family">Drude</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Joyce</namePart><namePart type="family">van der Vegt</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherland</affiliation><affiliation>Department of Neurology, University of Kiel, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hartwig</namePart><namePart type="family">Siebner</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Kiel, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Heike</namePart><namePart type="family">Pawlack</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter P.</namePart><namePart type="family">Pramstaller</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>EURAC Research, Institute of Genetic Medicine, Bolzano, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maria Isabel</namePart><namePart type="family">Behrens</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology and Neurosurgery, University of Santiago, Chile</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alfredo</namePart><namePart type="family">Ramirez</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Dirk</namePart><namePart type="family">Reichel</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Carsten</namePart><namePart type="family">Buhmann</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Hamburg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Johann</namePart><namePart type="family">Hagenah</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Klein</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Katja</namePart><namePart type="family">Lohmann</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Meike</namePart><namePart type="family">Kasten</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Psychiatry and Psychotherapy, University of Luebeck, Germany</affiliation><affiliation>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck, Germany</affiliation><description>Correspondence: Department of Psychiatry and Psychotherapy, University of Luebeck; Ratzeburger Allee 160, 23538 Luebeck, Germany</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="brief communication" displayLabel="shortCommunication"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-11-15</dateIssued><dateCaptured encoding="w3cdtf">2009-11-12</dateCaptured><dateValid encoding="w3cdtf">2010-04-30</dateValid><copyrightDate encoding="w3cdtf">2010</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">1</extent><extent unit="references">15</extent><extent unit="words">3925</extent></physicalDescription><abstract 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. © 2010 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: The authors do not have any conflict of interest.</note><note type="funding">EU grant GENEPARK - No. EU‐LSHB‐CT‐2006‐037544; </note><note type="funding">The NGFNplus - No. PNP‐01GS08135‐3; </note><note type="funding">The Volkswagen Foundation</note><note type="funding">The Hermann and Lilly Schilling Foundation</note><note type="funding">The Hilde Ulrichs Foundation</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>sense of smell</topic><topic>color discrimination</topic><topic>monogenic parkinsonism</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2010</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>15</number></detail><extent unit="pages"><start>2665</start><end>2669</end><total>5</total></extent></part></relatedItem><identifier type="istex">E25F1E24D7DBFA30E3CD77702F4769C3C756B8C9</identifier><identifier type="DOI">10.1002/mds.23272</identifier><identifier type="ArticleID">MDS23272</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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