Table 3.
Frequency of genotypes for GD1 patients with and without Parkinsonism, after matching.
| Patients without Parkinsonism reported |
Patients with Parkinsonism reported |
p-value | |
|---|---|---|---|
| Patients enrolled | 649 | 68 | |
| Patients reporting genotype, n (%) | n = 438 (67.5) | n = 59 (86.8) | 0.4149 |
| Genotypec, n(%) | |||
| N370S/N370S | 172 (39.2) | 27 (45.8) | |
| N370S/L444P | 71 (16.2) | 9 (15.3) | |
| N370S/84GG | 58 (13.2) | 4 (6.8) | |
| N370S/?a | 58 (13.2) | 8 (13.6) | |
| N370S/rare alleleb | 40 (9.1) | 5 (8.5) | |
| N370S/IVS2+1 | 13 (3.0) | 2 (3.4) | |
| L444P/rare alleleb | 5 (1.1) | 2 (3.4) | |
| Rare alleleb/rare alleleb | 5 (1.1) | – | |
| L444P/?a | 4 (0.9) | – | |
| 84GG/rare alleleb | 3 (0.7) | – | |
| Rare alleleb/?a | 3 (0.7) | – | |
| N370S/D409H | 2 (0.5) | – | |
| 84GG/?a | 1 (0.2) | – | |
| IVS2+1/rare alleleb | 1 (0.2) | – | |
| IVS2+1/?a | 1 (0.2) | – | |
| ?a/?a | 1 (0.2) | 2 (3.4) |
Results of genotype test did not match any tested mutations.
Rare allele is defined as known allele which is not N370S, L444P, IVS2+1, D409H or 84GG.
Calculations based on the number of patients reporting genotype.