Characteristics | Homozygous p.D331Y mutations N = 5 | Compound heterozygous p.D331Y/ other mutations N = 5 | Homozygous Mutations other than p.D331Y N = 17 | Compound Heterozygous mutations other than p.D331Y N = 8 | P-value |
---|---|---|---|---|---|
Age at onset, years | 33.0 ± 4.8 | 25.4 ± 6.3 | 23.2 ± 11.0 | 16.8 ± 9.9 | 0.23 |
Sex, male | 2 (50.0%) | 2 (40.0%) | 6 (35.3%) | 5 (62.5%) | 0.41 |
Ethnicity | |||||
Chinese | 5 (100.0%) | 5 (100.0%) | 0 | 1 (12.5%) | < 0.001** |
East Asian | 0 | 0 | 1 (4.8%) | 4 (50.0%) | 0.01* |
South Asian | 0 | 0 | 4 (19.0%) | 0 | 0.16 |
Middle Eastern | 0 | 0 | 14 (66.7%) | 0 | < 0.01** |
Caucasian | 0 | 0 | 2 (9.5%) | 3 (37.5%) | 0.11 |
Main clinical subtypes | |||||
Dystonia-parkinsonism | 0 | 3 (60.0%) | 9 (52.9%) | 2 (25.0%) | 0.07 |
Early-onset PD | 5 (100.0%) | 0 | 6 (35.3%) | 6 (75.0%) | 0.01* |
HSP | 0 | 1 (20.0%) | 2 (11.8%) | 0 | 0.78 |
Ataxia | 0 | 1 (20.0%) | 0 | 0 | 0.68 |