Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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.
I: Movement Disorders, Bind 25, Nr. 15, 15.11.2010, s. 2665-9.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
N1 - © 2010 Movement Disorder Society.
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
VL - 25
SP - 2665
EP - 2669
JO - Movement Disorders
JF - Movement Disorders
SN - 0885-3185
IS - 15
ER -
ID: 33437808