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Table 3 Case reports of patients with Parkin mutation

From: Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers

 

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.