Table 3.
Case reports of patients with Parkin mutation
| Case 1 | Case 2 | |
|---|---|---|
| Gene and | Parkin | Parkin |
| Exon with mutation | Exon 4 | Exon 11 |
| Mutation type | Heterozygous | Heterozygous |
| c. 458C>G | c. 1204C>T | |
| Protein change | P153R | p. Arg402Cys |
| Gender | Male | Male |
| Age at onset | 48 years | 48 years |
| Disease duration | 10 years | 13 years |
| Family history of Parkinsonism | Negative | Negative |
| UPDRS-III Off–Off scores | 46/108 | 49/108 |
| UPDR-III On–Off scores | 28/108 | 32/108 |
| UPDRS-III Off–On scores | 51/108 | 51/108 |
| UPDRS-III On–On scores | 30/108 | 47/108 |
| Initial symptoms | Resting tremor in left hand, dyskinesias 4 years after initiation of treatment. | Muscle stiffness in both upper limbs, dyskinesias 7 years after initiation of treatment. |