Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease

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 Kasten

doi:10.1002/mds.23272

Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease

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 Kasten

42 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	Movement Disorders
Vol/bind	25
Udgave nummer	15
Sider (fra-til)	2665-9
Antal sider	5
ISSN	0885-3185
DOI	https://doi.org/10.1002/mds.23272
Status	Udgivet - 15 nov. 2010

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10.1002/mds.23272

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Kertelge, L., Brüggemann, N., Schmidt, A., Tadic, V., Wisse, C., Dankert, S., Drude, L., van der Vegt, J., Siebner, H., Pawlack, H., Pramstaller, P. P., Behrens, M. I., Ramirez, A., Reichel, D., Buhmann, C., Hagenah, J., Klein, C., Lohmann, K., & Kasten, M. (2010). Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease. Movement Disorders, 25(15), 2665-9. https://doi.org/10.1002/mds.23272

Kertelge, L, Brüggemann, N, Schmidt, A, Tadic, V, Wisse, C, Dankert, S, Drude, L, van der Vegt, J, Siebner, H, Pawlack, H, Pramstaller, PP, Behrens, MI, Ramirez, A, Reichel, D, Buhmann, C, Hagenah, J, Klein, C, Lohmann, K & Kasten, M 2010, 'Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease', Movement Disorders, bind 25, nr. 15, s. 2665-9. https://doi.org/10.1002/mds.23272

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title = "Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease",

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.",

keywords = "Aged, Color Perception, Color Vision Defects, Discrimination (Psychology), Female, Genetic Testing, Humans, Male, Middle Aged, Mutation, Olfaction Disorders, Parkinson Disease, Smell, Statistics, Nonparametric, alpha-Synuclein",

author = "Lena Kertelge and Norbert Br{\"u}ggemann and Alexander Schmidt and Vera Tadic and Claudia Wisse and Sylwia Dankert and Laura Drude and {van der Vegt}, Joyce and Hartwig Siebner and Heike Pawlack and Pramstaller, {Peter P} and Behrens, {Maria Isabel} and Alfredo Ramirez and Dirk Reichel and Carsten Buhmann and Johann Hagenah and Christine Klein and Katja Lohmann and Meike Kasten",

note = "{\textcopyright} 2010 Movement Disorder Society.",

year = "2010",

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language = "English",

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TY - JOUR

T1 - Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease

AU - Kertelge, Lena

AU - Brüggemann, Norbert

AU - Schmidt, Alexander

AU - Tadic, Vera

AU - Wisse, Claudia

AU - Dankert, Sylwia

AU - Drude, Laura

AU - van der Vegt, Joyce

AU - Siebner, Hartwig

AU - Pawlack, Heike

AU - Pramstaller, Peter P

AU - Behrens, Maria Isabel

AU - Ramirez, Alfredo

AU - Reichel, Dirk

AU - Buhmann, Carsten

AU - Hagenah, Johann

AU - Klein, Christine

AU - Lohmann, Katja

AU - Kasten, Meike

PY - 2010/11/15

Y1 - 2010/11/15

N2 - 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.

AB - 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.

KW - Aged

KW - Color Perception

KW - Color Vision Defects

KW - Discrimination (Psychology)

KW - Female

KW - Genetic Testing

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

KW - Olfaction Disorders

KW - Parkinson Disease

KW - Smell

KW - Statistics, Nonparametric

KW - alpha-Synuclein

U2 - 10.1002/mds.23272

DO - 10.1002/mds.23272

M3 - Journal article

C2 - 20721915

SN - 0885-3185

VL - 25

SP - 2665

EP - 2669

JO - Movement Disorders

JF - Movement Disorders

IS - 15

ER -

Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease

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