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. |