Table 1.
Demographic data and p-syn deposition of patients with GBA1 mutation.
| Patient no. | Duration of disease (y) | H&Ystage | UPDRS part III | Annual UPDRS III progression | Bradykinesia score | Subtype | GBA1 mut. | p-syn pos biopsy site | p-syn pos structures | No. of positive struct. |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 14 | 3 | 70 | 5 | 1.7 | Equivalent | N370S | LL | ves, db, ep | 3 |
| 2 | 6 | 2 | 48 | 8 | 1.5 | Equivalent | N370S | – | 0 | |
| 3 | 17 | 2 | 34 | 2 | 0.6 | Equivalent | N370S | LL, Th10 | subepi, intraepi,ves, db | 4 |
| 4 | 6 | 2.5 | 35 | 5.8 | 1.7 | Equivalent | N370S | – | 0 | |
| 5 | 5 | 2 | 32 | 6.4 | 1.1 | Equivalent | N370S | UL, Th10 | db | 2 |
| 6 | 1 | 2 | 10 | 10 | 0.5 | Tremor dominant | L444P | – | 0 | |
| 7 | 8 | 3 | 49 | 6.1 | 2.5 | Equivalent | E326K | UL, LL, C7 | db, ves, ep | 4 |
| 8 | 14 | 2 | 32 | 2.3 | 1.6 | Equivalent | E326K | UL | subepi | 1 |
| 9 | 14 | 3 | 53 | 3.8 | 2.6 | Equivalent | E326K | UL, LL, C7 | db, sg | 4 |
| 10 | 2 | 2 | 36 | 18 | 1.8 | Acinetic-rigid | N370S | – | 0 |
No., number; y, years; H&Y, Hoehn&Yahr; GBA1, glucocerebrosidase gene; p-syn, phospho-alpha-synuclein; pos, positive; struct., structures; LL, lower leg; UL, upper leg; ves, vessel; db, dermal nerve bundle; ep, erector pilorum muscle; subepi, subepidermal; intraepi, intraepidermal; sg, sweat gland; UPDRS, Unified Parkinson Disease Rating Scale.