TABLE 1.
Characteristics of control and GBA carrier groups
| Biallelic GBA (n = 5) | Heterozygous GBA (n = 4) | Combined GBA (n = 9) | 11C‐(R)‐PK11195 controls (n = 20) | 18F‐Dopa controls (n = 9) | |||
|---|---|---|---|---|---|---|---|
| Age, years | 62.6 (2.9) | 63.3 (7.7) | 62.9 (2.9) | 66.8 (6.0) | 64.6 (3.6) | ||
| Male, % | 40.0 | 50.0 | 44.4 | 60.0 | 100.0 | ||
| UPSIT | 33.6 (1.1) | 31.5 (3.9) | 32.7 (2.7) | ||||
| MoCA | 27.4 (1.9) | 27.8 (2.2) | 27.6 (1.9) | ||||
| MDS UPDRS II | 2.0 (2.1) | 3.0 (3.6) | 2.4 (2.7) | ||||
| MDS UPDRS III | 12.8 (10.4) | 4.5 (2.4) | 9.1 (8.7) | ||||
| BDI | 2.6 (2.7) | 4.0 (1.4) | 3.2 (2.2) | ||||
| NMSS | 13.8 (9.2) | 17.0 (10.4) | 15.2 (9.3) | ||||
| RBDSQ | 2.0 (1.9) | 4.5 (2.4) | 3.1 (2.4) | ||||
| Mutations of GBA group | |||||||
|---|---|---|---|---|---|---|---|
| Gaucher disease | Enzyme replacement therapy | Substrate reduction therapy | |||||
| N370s/L444P a | Yes | No | Yes | ||||
| N370S/IVS2 + 1 a | No | No | Yes | ||||
| N370S/F216Y | Yes | Yes | No | ||||
| N370S/R359X b | Yes | No | Yes | ||||
| N370S/V447E | Yes | Yes | No | ||||
| RecNcil (L444P/A456P/V460V) a /wt | No | No | No | ||||
| N370S/wt | No | No | No | ||||
| N370S/wt | No | No | No | ||||
| V394L a /wt | No | No | No | ||||
| Clinical scores of GBA carriers | |||||||
|---|---|---|---|---|---|---|---|
| Participant | MDS UPDRS II | MDS UPDRS III | MoCA | UPSIT | BDI | NMSS | RBDSQ |
| 1 | 0 | 2 | 30 | 37 | 4 | 15 | 7 |
| 2 | 0 | 3 | 25 | 30 | 2 | 4 | 2 |
| 3 | 2 | 4 | 30 | 35 | 2 | 8 | 1 |
| 4 | 5 | 29 | 26 | 32 | 3 | 13 | 4 |
| 5 | 0 | 4 | 26 | 33 | 7 | 28 | 4 |
| 6 | 3 | 11 | 29 | 34 | 1 | 16 | 1 |
| 7 | 0 | 7 | 27 | 31 | 5 | 29 | 0 |
| 8 | 2 | 6 | 29 | 28 | 5 | 20 | 1 |
| 9 | 0 | 16 | 26 | 34 | 0 | 4 | 0 |
GBA, glucocerebrosidase; PD, Parkinson's disease; MDS UPDRS, Movement Disorder Society Unified Parkinson's Disease Rating Scale; NMSS, Non‐Motor Symptoms Scale; MMSE, Mini–Mental State Examination; MoCA, Montreal Cognitive Assessment; BDI, Beck's Depression Index; RBDSQ, REM Sleep Behavior Disorder Questionnaire.
For demographics, results are mean (SD).
a
Severe mutation of GBA carrier group.
b
Null mutation of GBA carrier group.