Table 1.
α-synuclein seed amplification assays in patients with genetic Parkinson’s disease
| Tissue | Genetic/disease status | Positive seeding+/n (%) | Reference |
| CSF | LRRK2-PD (G2019S) | 6/15 (40) | 39 |
| LRRK2 NMC (G2019S) | 3/16 (19) | ||
| Controls | 2/10 (20) | ||
| GBA1-PD | 7/7 (100) | 38 | |
| LRRK2-PD | 0/1 (0) | ||
| Controls | 1/62 (2) | ||
| GBA1-PD (risk variants) | 48/53 (91) | 36 | |
| GBA1-PD (mild variants) | 11/17 (65) | ||
| GBA1-PD (severe variants) | 27/29 (93) | ||
| LRRK2-PD | 7/9 (78) | ||
| PRKN-PD (n = 15), PINK1-PD (n = 1), DJ-1-PD (n = 1) (heterozygous) | 10/17 (59) | ||
| PRKN-PD (n = 1), PINK1-PD (n = 2) (bi-allelic) | 0/3 (0) | ||
| GBA1, LRRK2 NMC | 2/14 (14) | ||
| Controls | 2/26 (8) | ||
| SNCA-PD (triplication) | 1/1 (100) | 40 | |
| Controls | 2/26 (8) | ||
| GBA1-PD (N409S; mild variant) | 47/49 (96) | 29 | |
| LRRK2-PD (G2019S) | 83/123 (67) | ||
| GBA1 NMC | 11/151 (7) | ||
| LRRK2 NMC | 14/159 (9) | ||
| Controls | 6/163 (4) | ||
| Blood | PRKN-PD (bi-allelic) | 0/17 (0) | 28 |
| Controls | 11/128 (9) | ||
| PRKN-PD (bi-allelic) | 8/13 (62) | 41 | |
| Controls | 0/10 (0) |
NMC, non-manifesting carrier.