Table 1.
Patient (gender) | Age at onset | Age | PRKNMutations | Start location | First symptom | Tremor | Progression | Parkinsonism | Rigidity | Postural instability | Dystonia | Bradykinesia | Hypokinesia | Autonomic dysfunction | Pyramidal signs | Stride and sleep apnea | REM sleep behavior disorder | Falling | Response to levodopa | Other symptoms |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FA_P1 (Male) | 13 | 62 | Delx5/Delx5 | Limbs | Resting tremor | Rest, intention, limbs | Slow | Sy | Y | La | Y | Y | Y | Y | N | N | N | Y | Y | Eye lid apraxia or blepharospasm, incontinence, sensory polyneuropathy, impaired smell |
FA_P2 (Male) | 13 | 54 | Limbs | Resting tremor | Intention, limbs, chin | Slow | Sy | N | La | N | Y | Y | N | N | N | N | Y | Y | Incontinence, sensory polyneuropathy | |
FA_P3 (Male) | 13 | 50 | Whole body | Whole body tremor | Rest, intention, limbs | Slow | Sy | Y | La | N | Y | Y | N | N | N | N | N | Y | Sensory polyneuropathy | |
FB_P1 (Female) | 10 | 24 | Delx2/Delx3 | Limbs | Rigidity | Rest | Slow | Asy | Y | Y | Y | Y | N | N | N | N | N | Y | Y | None |
FC_P1 (Female) | 17 | 27 | Delx4–6/Delx4 | Whole body | Resting tremor | Rest | Fast | Sy | Y | Y | Y | Y | N | N | N | N | N | Y | N | None |
Family A was previously reported in Taghavi et al., 2018 (Family 3).
As: asymmetric; Ea: early; FA_P1: family A, patient 1; La: late; N: No; Sy: symmetric; Y: yes.