Table 1.
Genetic, biochemical and clinical characteristics of PMD/SPG2 patients.
| PLP1 Mutation | NAAG (μmol/L)* | Age | Clinical Score |
|---|---|---|---|
| p.Cys109TrpfsX11 | ND | 3 | 3 |
| p.Asp103ThrfsX12 | ND | 17 | 3 |
| p.Val219Phe | ND | 38 | 3 |
| c.IVS4+1G>A / p.Val209GlufsX27 | ND | 9 | 3 |
| p.Leu223Phe | 38 | 10 | 0 |
| p.Cys220Tyr | ND | 10 | 3 |
| p.Asp103ThrfsX12 | ND | 18 | 4 |
| Duplication | 30 | 2 | 1 |
| Duplication | 36 | 6 | 3 |
| Duplication | 40 | 2 | 2 |
| Duplication | 65 | 6 | 3 |
| Duplication | 89 | 5 | 3 |
| Duplication | 32 | 17 | 2 |
| Duplication | 84 | 8 | 2 |
| Duplication | 60 | 11 | 3 |
| Duplication | 47 | 4 | 3 |
| Duplication | 106 | 13 | 2 |
| Duplication | 36 | 8 | 3 |
| Duplication | 56 | 5 | 2 |
| Duplication | 205 | 8 | 1 |
| Duplication | 88 | 9 | 1 |
| Duplication | 55 | 3 | 1 |
| Duplication | 32 | 5 | 2 |
| Duplication | 23 | 3 | 1 |
| Duplication | 53 | 5 | 3 |
| Duplication | 52 | 7 | 2 |
*
Diseased controls, mean= 5 ±1 μmol/L (n=15). ND: below detection limit (<3 μmol/L).