Table 1.
Overview of Study Cohorts
| Study (Country) | N (% male) | Age at Enrollment (years, SD) | Years of Education (years, SD) | Study Years (years, range) | Mutation No. of Subjects (%) | Mutations Screened |
|---|---|---|---|---|---|---|
| HBS (USA) | 42 (7.6) | Targeted sequencing or N370S, E326K, T369M genotyping | ||||
| Carriers | 42 (59.5) | 65.2 (10.2) | 15.0 (1.7) | 1.7 (0.0–5.2) | ||
| Noncarriers | 514 (64.6) | 66.1 (9.8) | 15.1 (1.9) | 1.8 (0.0–8.0) | ||
| DATATOP (USA, Canada) | 38 (8.7) | Targeted sequencing | ||||
| Carriers | 39 (51.3) | 61.1 (8.1) | 13.6 (3.2) | 6.6 (0.0–7.6) | ||
| Noncarriers | 398 (68.1) | 60.0 (9.1) | 14.3 (3.4) | 6.3 (0.0–7.8) | ||
| DIGPD (France) | 32 (7.8) | Sanger sequencing | ||||
| Carriers | 32 (50.0) | 60.9 (8.9) | 11.3 (3.3) | 2.5 (0.0–5.0) | ||
| Noncarriers | 377 (59.4) | 62.5 (9.8) | 12.1 (3.3) | 2.2 (0.0–5.0) | ||
| CamPaIGN (UK) | 15 (13.2) | Sanger sequencing | ||||
| Carriers | 15 (73.3) | 67.1 (9.4) | 10.5 (2.6) | 6.3 (0.0–11.8) | ||
| Noncarriers | 99 (54.5) | 69.8 (9.9) | 11.7 (3.4) | 7.0 (0.0–12.8) | ||
| PICNICS (UK) | 8 (6.2) | Sanger sequencing | ||||
| Carriers | 8 (62.5) | 63.8 (7.8) | 12.5 (2) | 3.7 (0.0–4.7) | ||
| Noncarriers | 121 (66.1) | 69.2 (9.2) | 12.1 (2.9) | 3.0 (0.0–6.7) | ||
| PROPARK (Netherlands) | 53 (16.2) | Targeted sequencing or whole‐exome sequencing | ||||
| Carriers | 53 (69.8) | 58.9 (10.1) | 12.2 (4.4) | 4.5 (0.0–5.4) | ||
| Noncarriers | 274 (65.3) | 59.7 (10.9) | 12.0 (4.1) | 4.7 (0.0–6.3) | ||
| PreCEPT (USA, Canada) | 32 (9.6) | Targeted sequencing | ||||
| Carriers | 32 (56.3) | 58.5 (7) | 15.8 (3.4) | 6.7 (0.0–8.2) | ||
| Noncarriers | 300 (67.7) | 60.7 (9.6) | 16.1 (3.1) | 6.7 (0.0–8.6) | ||
The study names are Harvard Biomarkers Study (HBS)10, 21, 22; Deprenyl and Tocopherol Antioxidative Therapy of Parkinsonism (DATATOP)15, 23; Parkinson Research Examination of CEP‐1347 Trial/A Longitudinal Follow‐up of the PRECEPT Study Cohort (PreCEPT/PostCEPT)13; Cambridgeshire Parkinson's Incidence from GP to Neurologist (CamPaIGN)6, 11, 24; Parkinsonism: Incidence, Cognition and Non‐motor heterogeneity in Cambridgeshire (PICNICS)14; Drug Interaction with Genes in PD (DIGPD)25; and PROfiling PARKinson's disease (PROPARK) study.16 HBS was examined in two parts: 383 participants for whom targeted genotyping of three GBA mutations was performed; 173 individuals for whom full sequencing of the GBA locus was performed (targeted sequencing).