Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease
Identifieur interne : 000682 ( Main/Exploration ); précédent : 000681; suivant : 000683Impaired 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 [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 ] ; 2010-11-15.
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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Luebeck</wicri:regionArea><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion></affiliation></author><author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</wicri:regionArea><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion></affiliation></author><author><name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</wicri:regionArea><wicri:noRegion>University of 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Kiel</wicri:noRegion></affiliation></author><author><name sortKey="Siebner, Hartwig" sort="Siebner, Hartwig" uniqKey="Siebner H" first="Hartwig" last="Siebner">Hartwig Siebner</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Kiel</wicri:regionArea><wicri:noRegion>University of Kiel</wicri:noRegion><wicri:noRegion>University of Kiel</wicri:noRegion></affiliation></author><author><name sortKey="Pawlack, Heike" sort="Pawlack, Heike" uniqKey="Pawlack H" first="Heike" last="Pawlack">Heike Pawlack</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</wicri:regionArea><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion></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"><country xml:lang="fr">Italie</country><wicri:regionArea>EURAC Research, Institute of Genetic Medicine, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Chili</country><wicri:regionArea>Department of Neurology and Neurosurgery, University of Santiago</wicri:regionArea><wicri:noRegion>University of Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</wicri:regionArea><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion></affiliation></author><author><name sortKey="Reichel, Dirk" sort="Reichel, Dirk" uniqKey="Reichel D" first="Dirk" last="Reichel">Dirk Reichel</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</wicri:regionArea><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion></affiliation></author><author><name sortKey="Buhmann, Carsten" sort="Buhmann, Carsten" uniqKey="Buhmann C" first="Carsten" last="Buhmann">Carsten Buhmann</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Hamburg</wicri:regionArea><wicri:noRegion>University of Hamburg</wicri:noRegion><wicri:noRegion>University of Hamburg</wicri:noRegion></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>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</wicri:regionArea><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>University of 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>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</wicri:regionArea><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion></affiliation></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</wicri:regionArea><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion></affiliation></author><author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Psychiatry and Psychotherapy, University of Luebeck</wicri:regionArea><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Section of Clincal and Molecular Neurogenetics at the Department of Neurology, University of Luebeck</wicri:regionArea><wicri:noRegion>University of Luebeck</wicri:noRegion><wicri:noRegion>University of Luebeck</wicri:noRegion></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><affiliations><list><country><li>Allemagne</li><li>Chili</li><li>Italie</li></country></list><tree><country name="Allemagne"><noRegion><name sortKey="Kertelge, Lena" sort="Kertelge, Lena" uniqKey="Kertelge L" first="Lena" last="Kertelge">Lena Kertelge</name></noRegion><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><name sortKey="Buhmann, Carsten" sort="Buhmann, Carsten" uniqKey="Buhmann C" first="Carsten" last="Buhmann">Carsten Buhmann</name><name sortKey="Dankert, Sylwia" sort="Dankert, Sylwia" uniqKey="Dankert S" first="Sylwia" last="Dankert">Sylwia Dankert</name><name sortKey="Drude, Laura" sort="Drude, Laura" uniqKey="Drude L" first="Laura" last="Drude">Laura Drude</name><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name><name sortKey="Kertelge, Lena" sort="Kertelge, Lena" uniqKey="Kertelge L" first="Lena" last="Kertelge">Lena Kertelge</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><name sortKey="Pawlack, Heike" sort="Pawlack, Heike" uniqKey="Pawlack H" first="Heike" last="Pawlack">Heike Pawlack</name><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><name sortKey="Reichel, Dirk" sort="Reichel, Dirk" uniqKey="Reichel D" first="Dirk" last="Reichel">Dirk Reichel</name><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name><name sortKey="Siebner, Hartwig" sort="Siebner, Hartwig" uniqKey="Siebner H" first="Hartwig" last="Siebner">Hartwig Siebner</name><name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name><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><name sortKey="Wisse, Claudia" sort="Wisse, Claudia" uniqKey="Wisse C" first="Claudia" last="Wisse">Claudia Wisse</name></country><country name="Italie"><noRegion><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name></noRegion></country><country name="Chili"><noRegion><name sortKey="Behrens, Maria Isabel" sort="Behrens, Maria Isabel" uniqKey="Behrens M" first="Maria Isabel" last="Behrens">Maria Isabel Behrens</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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