Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease.
Identifieur interne : 001629 ( PubMed/Curation ); précédent : 001628; suivant : 001630Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease.
Auteurs : Lena Kertelge [Allemagne] ; 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 : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Aged, Color Perception (genetics), Color Vision Defects (genetics), Color Vision Defects (physiopathology), Discrimination (Psychology) (physiology), Female, Genetic Testing, Humans, Male, Middle Aged, Mutation, Olfaction Disorders (genetics), Olfaction Disorders (physiopathology), Parkinson Disease (genetics), Parkinson Disease (physiopathology), Smell (genetics), Statistics, Nonparametric, alpha-Synuclein (genetics).
- MESH :
- chemical , genetics : alpha-Synuclein.
- genetics : Color Perception, Color Vision Defects, Olfaction Disorders, Parkinson Disease, Smell.
- physiology : Discrimination (Psychology).
- physiopathology : Color Vision Defects, Olfaction Disorders, Parkinson Disease.
- Aged, Female, Genetic Testing, Humans, Male, Middle Aged, Mutation, Statistics, Nonparametric.
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.
DOI: 10.1002/mds.23272
PubMed: 20721915
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Pramstaller</name></author><author><name sortKey="Behrens, Maria Isabel" sort="Behrens, Maria Isabel" uniqKey="Behrens M" first="Maria Isabel" last="Behrens">Maria Isabel Behrens</name></author><author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name></author><author><name sortKey="Reichel, Dirk" sort="Reichel, Dirk" uniqKey="Reichel D" first="Dirk" last="Reichel">Dirk Reichel</name></author><author><name sortKey="Buhmann, Carsten" sort="Buhmann, Carsten" uniqKey="Buhmann C" first="Carsten" last="Buhmann">Carsten Buhmann</name></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name></author><author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Color Perception (genetics)</term><term>Color Vision Defects (genetics)</term><term>Color Vision Defects (physiopathology)</term><term>Discrimination (Psychology) (physiology)</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Olfaction Disorders (genetics)</term><term>Olfaction Disorders (physiopathology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>Smell (genetics)</term><term>Statistics, Nonparametric</term><term>alpha-Synuclein (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Color Perception</term><term>Color Vision Defects</term><term>Olfaction Disorders</term><term>Parkinson Disease</term><term>Smell</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Discrimination (Psychology)</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Color Vision Defects</term><term>Olfaction Disorders</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Statistics, Nonparametric</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><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20721915</PMID><DateCreated><Year>2010</Year><Month>11</Month><Day>11</Day></DateCreated><DateCompleted><Year>2011</Year><Month>02</Month><Day>25</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>15</Issue><PubDate><Year>2010</Year><Month>Nov</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>2665-9</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23272</ELocationID><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>© 2010 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kertelge</LastName><ForeName>Lena</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Psychiatry and Psychotherapy, University of Luebeck, Luebeck, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brüggemann</LastName><ForeName>Norbert</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Schmidt</LastName><ForeName>Alexander</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Tadic</LastName><ForeName>Vera</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Wisse</LastName><ForeName>Claudia</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Dankert</LastName><ForeName>Sylwia</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Drude</LastName><ForeName>Laura</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>van der Vegt</LastName><ForeName>Joyce</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Siebner</LastName><ForeName>Hartwig</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Pawlack</LastName><ForeName>Heike</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Pramstaller</LastName><ForeName>Peter P</ForeName><Initials>PP</Initials></Author><Author ValidYN="Y"><LastName>Behrens</LastName><ForeName>Maria Isabel</ForeName><Initials>MI</Initials></Author><Author ValidYN="Y"><LastName>Ramirez</LastName><ForeName>Alfredo</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Reichel</LastName><ForeName>Dirk</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Buhmann</LastName><ForeName>Carsten</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Hagenah</LastName><ForeName>Johann</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Klein</LastName><ForeName>Christine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Lohmann</LastName><ForeName>Katja</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Kasten</LastName><ForeName>Meike</ForeName><Initials>M</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051844">alpha-Synuclein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003118">Color Perception</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003117">Color Vision Defects</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004192">Discrimination (Psychology)</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000502">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000857">Olfaction Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012903">Smell</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018709">Statistics, Nonparametric</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051844">alpha-Synuclein</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>8</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>8</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2011</Year><Month>2</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23272</ArticleId><ArticleId IdType="pubmed">20721915</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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