Table III.
Clinical data for the patients carrying pathogenic variations as predicted in silico
| Variation | Patient ID | Age, yr (sex) | Age at onset (yr) | Family history | Clinical features | Response to L-DOPA |
|---|---|---|---|---|---|---|
| c. 101A>G (p.Q34R) | PD-41 | 52 (males) | 48 | No | Tremor on left side of the body, rigidity, masked face, postural instability | Yes |
| PD-48 | 45 (females) | 43 | No | Tremor in both hands, severe headache, bradykinesia | Yes | |
| PD-111 | 35 (males) | 33 | No | Tremor in whole body, rigidity, postural instability, depression | No | |
| PD-139 | 65 (male) | 60 | No | Tremor started on left hand, then spread over whole body, facial tremor, speech disability, postural instability, dementia | Yes | |
| PD-141 | 47 (females) | 45 | No | Tremor in both hands and legs, rigidity, bradykinesia, postural instability | No | |
| c. 125G>A (p.R42H) | PD-75 | 55 (female) | 53 | No | Tremor in whole body, bradykinesia, rigidity, postural instability, nausea and vomiting | Yes |
| c. 245C>A (p.A82E) | PD-76 | 55 (males) | 54 | No | Tremor in both hands and legs, bradykinesia, postural instability | Yes |
| c. 1076G>A (p.G359D) | PD-112 | 53 (male) | 51 | No | Tremor on the left side of the body, speech disability, problem in swallowing food, bradykinesia | No |
| PD-116 | 60 (females) | 57 | No | Tremor in both hands, bradykinesia, postural instability | Yes |