Table 1. Clinical characteristics of two new Chinese patients with DRD, together with their GCH1 mutation status and predicted functional effects of the mutations.
|
Predicted functional effect |
||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case | Sex | Variant | Age at onset (year) | Age at diagnosis (year) | Site of onset | Dystonia | Parkinsonism | Diurnal fluctuation | L-dopatreatment mg/da | Pmut | SNAP | Polyphen |
| A | F | T94M | 6 | 10 | Lower legs | + | NDb | + | 60 | Probably damaging | Non-neutral | Pathological |
| B | F | L145F c.453+6 G>T | 5 | 9 | Lower legs | + | ND | + | 50 | Probably damaging | Neutral | Pathological |
Abbreviations: DRD, Dopa-responsive dystonia; GCH1, GTP cyclohydrolase I; ND, not determined.
a
Administrated once a day.
b
Means not detected.