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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

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

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  • Medientyp: E-Artikel
  • Titel: Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease
  • Beteiligte: 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
  • Erschienen: Wiley, 2010
  • Erschienen in: Movement Disorders
  • Sprache: Englisch
  • DOI: 10.1002/mds.23272
  • ISSN: 0885-3185; 1531-8257
  • Schlagwörter: Neurology (clinical) ; Neurology
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>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 <jats:italic>Parkin</jats:italic> (6MC/9NMC), 17 <jats:italic>PINK1</jats:italic> (10MC/7NMC), 8 <jats:italic>LRRK2</jats:italic> (4MC/4NMC), 3 <jats:italic>SNCA</jats:italic> (MC), and 4 <jats:italic>ATP13A2</jats:italic> (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 <jats:italic>Parkin</jats:italic> and <jats:italic>PINK1</jats:italic> showed higher UPSIT percentiles than <jats:italic>LRRK2</jats:italic> and <jats:italic>SNCA</jats:italic> 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 <jats:italic>LRRK2</jats:italic>, NMC (80.0 ± 38.8) were comparable with controls (97.2 ± 61.1). UPSIT and FM scores were correlated in the control (<jats:italic>r</jats:italic> = −0.305; <jats:italic>P</jats:italic> = 0.002) and the IPD group (<jats:italic>r</jats:italic> = −0.303; <jats:italic>P</jats:italic> = 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 <jats:italic>Parkin</jats:italic>/<jats:italic>PINK1</jats:italic>‐associated PD. Third, olfaction and color discrimination impairment do not necessarily evolve in parallel. © 2010 Movement Disorder Society</jats:p>