Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease.
Standard
Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease. / Kertelge, Lena; Brüggemann, Norbert; Schmidt, Alexander; Tadic, Vera; Wisse, Claudia; Dankert, Sylwia; Drude, Laura; van der Vegt, Joyce; Siebner, Hartwig; Pawlack, Heike; Pramstaller, Peter P; Behrens, Maria Isabel; Ramirez, Alfredo; Reichel, Dirk; Buhmann, Carsten; Hagenah, Johann; Klein, Christine; Lohmann, Katja; Kasten, Meike.
in: MOVEMENT DISORD, Jahrgang 25, Nr. 15, 15, 2010, S. 2665-2669.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
Harvard
APA
Vancouver
Bibtex
}
RIS
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
Y1 - 2010
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 - Humans
KW - Male
KW - Aged
KW - Female
KW - Middle Aged
KW - Mutation
KW - Statistics, Nonparametric
KW - Genetic Testing
KW - Parkinson Disease genetics
KW - Discrimination (Psychology) physiology
KW - Color Perception genetics
KW - Color Vision Defects genetics
KW - Olfaction Disorders genetics
KW - Smell genetics
KW - alpha-Synuclein genetics
KW - Humans
KW - Male
KW - Aged
KW - Female
KW - Middle Aged
KW - Mutation
KW - Statistics, Nonparametric
KW - Genetic Testing
KW - Parkinson Disease genetics
KW - Discrimination (Psychology) physiology
KW - Color Perception genetics
KW - Color Vision Defects genetics
KW - Olfaction Disorders genetics
KW - Smell genetics
KW - alpha-Synuclein genetics
M3 - SCORING: Journal article
VL - 25
SP - 2665
EP - 2669
JO - MOVEMENT DISORD
JF - MOVEMENT DISORD
SN - 0885-3185
IS - 15
M1 - 15
ER -