Table 1.
Summary of the clinical, functional neuro-imaging and molecular genetic data on subjects from the study family. PD denotes Parkinson's disease; DRD Dopa responsive dystonia; N/A not done or not appropriate; MMSE mini mental state examination score; UPSIT University of Pennsylvania Smell Identification Test; DaTSCAN dopamine transporter imaging; Mod. moderate. Age and sex corrected percentile values for UPSIT scores are presented in brackets.
| Subject & gender | Age at eval. | Age at sympt. onset | Clinical diagnosis | L-dopa response | H&Y stage | MMSE | UPSIT score (percentile) | DaT scan | GCH1 mut. p.E2G |
|---|---|---|---|---|---|---|---|---|---|
| II:1 M | 82 | 58 | PD | Y | 3 | 27 | 21 (40th) Severe microsmia |
A | Y |
| II:2 M | 80 | N/A | Unaffected | N/A | N/A | 27 | 31 (71st) Mild microsmia |
N | N |
| II:3 M | 78 | 75 | Isolated rest tremor | No Rx | 1 | 30 | 21 (23rd) Severe microsmia |
1 A 2 N |
N |
| II:4 M | 68 | 50 | PD | Y | 2 | 29 | 28 (31st) Mod. microsmia |
1 A 2 A |
Y |
| II:5 M | 66 | 44 | DRD | Y | N/A | 28 | 26 (24th) Mod. microsmia |
N | Y |
| III:1 F | 56 | 17 | DRD | Y | N/A | 30 | 35 (38th) Normosomia |
N | Y |
| III:11 F | 26 | 6 | DRD | Y | N/A | 29 | 37 (40th) Normosmia |
N | Y |