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. 2020 Nov;152(5):498–507. doi: 10.4103/ijmr.IJMR_730_18

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