Table 3.
Comparison of patients with different PLAN-related genotypes
| 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 |
Data are the number (%) or the mean ± SD. PLAN, Phospholipase A2 group VI-associated neurodegeneration; PD, Parkinson’s disease; HSP, hereditary spastic paraparesis. **P < 0.05; **P < 0.01. P-values that compare individual characteristics between four groups with different genotypes were evaluated with an analysis of variance. Variables without a normal distribution were compared with the Kruskal-Wallis test, the non-parametric equivalent of the independent sample t-test