Table 3 Clinical data for patients with Parkinson disease and glucocerebrosidase mutations.
| Study ID | Mutation | Age at onset* (y) | Disease duration (y) | Family history of PD | Sex | Additional information |
|---|---|---|---|---|---|---|
| Patients | ||||||
| H44 | L444P | 60 | 7 | N | F | L‐dopa response (+), motor fluctuation (+) |
| H46 | R120W | 62 | 4 | N | M | L‐dopa response (+) |
| H80 | RecNciI | 34 | 8 | N | F | L‐dopa response (+), motor fluctuation (+) |
| H86 | L444P | 29 | 13 | N | M | L‐dopa response (+), motor fluctuation (+), STN‐DBS implantation (+) |
| H213 | L444P | 57 | 19 | Y | M | L‐dopa response (+), motor fluctuation (+), STN‐DBS implantation (+) |
| H351 | L444P | 57 | 11 | N | F | L‐dopa response (+), motor fluctuation (+), STN‐DBS implantation (+) |
| H434 | L444P | 46 | 3 | N | F | L‐dopa response (+), motor fluctuation (+) |
| H507 | L444P | 64 | 12 | N | F | L‐dopa response (+), motor fluctuation (+), dementia (+) |
| H590 | L444P | 67 | 4 | N | F | L‐dopa response (+) |
| H707 | L444P | 55 | 5 | N | M | L‐dopa response (+) |
| H837 | L444P | 46 | 3 | N | M | L‐dopa response (+) |
| H867 | L444P | 64 | 2 | N | M | L‐dopa response (+) |
| H1279 | L444P | 30 | 8 | N | M | L‐dopa response (+), motor fluctuation (+) |
| H1405 | RecNciI | 49 | 4 | N | F | L‐dopa response (+), depression (+) |
| H1421 | L444P | 50 | 7 | N | F | L‐dopa response (+), depression (+) |
| H1500 | L444P | 40 | 7 | N | M | L‐dopa response (+), motor fluctuation (+) |
| Controls | ||||||
| C769 | L444P | 76 | – | N | F | – |
| C806 | L444P | 73 | – | N | F | – |
| C877 | RecNciI | 57 | – | N | F | – |
| C972 | RecNciI | 43 | – | N | F | – |
PD, Parkinson disease; STN‐DBS, subthalamic nucleus deep brain stimulation.
*Age at study inclusion for control individuals.