Table 3.
Detailed clinical description of patients with mutations in PD/parkinsonism genes
| Patient (gender) | AAO | Age | Gene mutation | Start location | First symptom | Tremor | Progression | Parkinsonism | Rigidity | Postural instability | Dystonia | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F1P1 (F) | 26 | 32 | PINK1 | Hands | Resting tremor | Rest, intention, limbs, head, chin | Fast | Sy | N | N | N | |||
| F1P2 (F) | 15 | 55 | c.736C>T; | Hands | Resting tremor | Rest | Slow | As | N | N | N | |||
| F1P3 (F) | 22 | 40 | p.R246X | Hands | Resting tremor | Whole body | Slow | Sy | Y | La | Y | |||
| F1P4 (F) | 33 | 35 | Right hand | Resting tremor | Limbs, head, chin, voice | Fast | As | N | La | Y | ||||
| F1P5 (M) | 30 | 38 | Hands | Resting tremor | Whole body | Fast | Sy | Y | N | N | ||||
| F1P6 (M) | 40 | 46 | Hands | Resting tremor | Intention, limbs | Slow | Sy | N | N | N | ||||
| F2P1 (F) | 16 | 52 | PINK1 | Hands | Resting tremor | Rest | Slow | Sy | Y | Ea | Y | |||
| F2P2 (M) | 24 | 50 | c.1366C>T; | Hands | Resting tremor | Rest | Slow | As | N | La | N | |||
| F2P3 (F) | 24 | 42 | p.Q456X | Hands | Resting tremor | Rest | Slow | As | Y | La | N | |||
| F2P4 (M) | 39 | 45 | Hands | Resting tremor | Rest | Slow | As | Y | La | N | ||||
| F3P1 (M) | 13 | 62 | Parkin | Limbs | Resting tremor | Rest, intention, limbs | Slow | Sy | Y | La | Y | |||
| F3P2 (M) | 13 | 54 | Deletion | Limbs | Resting tremor | Intention, limbs, chin | Slow | Sy | N | La | N | |||
| F3P3 (M) | 13 | 50 | exon 5 | Whole body | Whole body tremor | Rest, intention, limbs | Slow | Sy | Y | La | N | |||
| F4P1 (M) | 24 | 29 | Parkin | Leg | Resting tremor | Limbs, head, neck | Fast | Sy | N | N | N | |||
| F4P2 (F) | 23 | 35 | Deletion | Leg | Resting tremor | Limbs, voice | Slow | Sy | Y | La | N | |||
| F4P3 (F) | 27 | 42 | exon 3 | Limbs | Resting tremor | Rest, intention, limbs, chin, voice | Slow | N | N | La | N | |||
| F5P1 (F) | 34 | 42 | Parkin | Hands | Resting tremor | Intention, limbs | Slow | Sy | Y | La | N | |||
| F5P2 (F) | 17 | 37 | Deletion | Hands | Resting tremor | Intention, limbs | Fast | Sy | N | La | N | |||
| F5P3 (M) | 20 | 49 | Exons 5 and 6 | Whole body | Whole body tremor | Rest, intention, limbs, voice | Fast | Sy | Y | La | N | |||
| F6P1 (M) | 23 | 30 | Parkin | Limbs | Resting tremor | Rest, limbs, head, chin | Slow | As | Y | La | N | |||
| F6P2 (M) | 24 | 34 | Deletion | Limbs | Resting tremor | Rest, limbs, head, chin | Slow | As | Y | La | N | |||
| F6P3 (F) | 35 | 38 | Exon 5 | Limbs | Resting tremor | Rest, limbs, head, chin | Slow | As | Y | La | N | |||
| F7P1 (F) | 27 | 42 | Parkin | Limbs | Resting tremor | Limbs | Slow | Sy | N | La | N | |||
| F7P2 (M) | 27 | 60 | Deletion Exons 3 and 4 |
Left leg | Resting tremor | Limbs | Slow | Sy | Y | La | N | |||
| F8P1 (F) | 28 | 31 | Parkin | Legs | Resting tremor | Rest, intention, limbs | Fast | N | N | N | N | |||
| F8P2 (M) | 30 | 33 | Deletion Exon 3 |
Left hand | Resting tremor | Rest, intention, limbs | Fast | N | Y | N | N | |||
| F9P1 (M) | 44 | 47 | Parkin | Legs | Resting tremor | Rest | Fast | Sy | Y | La | N | |||
| F9P2 (M) | 37 | 44 | Deletion Exon 4 |
Left upper limb | Myoclonus | Other | Moderate | As | Y | La | Y | |||
| F10P1 (F) | 27 | 32 | Parkin | Legs | Resting tremor | Rest | Slow | As | N | Ea | Y | |||
| F10P2 (F) | 35 | 45 | Deletion Exon 7 |
Legs | Resting tremor | Rest | Slow | As | N | Ea | N | |||
| F11P1 (F) | 45 | 50 | Parkin | Hands | Resting tremor | Rest, limbs | Slow | Sy | Y | Ea | Y | |||
| F11P2 (F) | 45 | 52 | Deletion Exon 5 |
Hands | Resting tremor | Rest | Slow | Sy | Y | Ea | Y | |||
| F12P1 (M) | 35 | 47 | Parkin | Left hand | Resting tremor | Limbs | Slow | As | Y | La | N | |||
| F12P2 (F) | 32 | 45 | c.1240delA; p.T414PfsX20 | Lower limbs | Stiffness of the lower limbs | Non | Very Slow | Sy | Y | N | N | |||
| F13P1 (M) | 22 | 41 | Parkin | Un | Bradykinesia | Rest, limbs | Slow | As | Y | La | N | |||
| F13P2 (M) | 22 | 40 | Deletion Exons 5 and 6 |
Un | Slowness | Non | Slow | Sy | N | N | N | |||
| F14P1 (F) | 14 | 42 | Parkin | Hands | Resting tremor | Rest | Slow | Sy | Y | Ea | Y | |||
| F14P2 (F) | 40 | 54 | c.125G>C; p.R42P | Hands | Resting tremor | Rest | Slow | Sy | Y | La | N | |||
| F15P1 (F) | 14 | 28 | Parkin | Un | Bradykinesia | Rest, limbs | Slow | As | Y | La | Y | |||
| F15P2 (M) | 12 | 30 | Deletion Exons 3 to 7 |
Un | Bradykinesia | Rest, limbs | Fast | As | Y | Ea | Y | |||
| F16P1 (M) | 19 | 23 | Parkin | Left limbs | Resting tremor | Intention, limbs, neck, chin, voice, tongue | Fast | Sy | Y | N | N | |||
| F16P2 (M) | 15 | 32 | c.125G>C; p.R42P | Hands | Resting tremor | Rest, limbs, chin, voice | Fast | Sy | Y | Ea | Y | |||
| F17P1 (M) | 14 | 35 | Parkin | Un | Bradykinesia | Rest, limbs | Slow | As | Y | La | Y | |||
| F17P2 (M) | 15 | 46 | Deletion Exons 5 to 7 |
Un | Bradykinesia | Rest, limbs | Fast | As | Y | Ea | Y | |||
| F18P1 (F) | 25 | 35 | Parkin | Left hand | Resting tremor | Intention, limbs, head, voice | Slow | As | Y | La | Y | |||
| F18P2 (M) | 24 | 48 | Deletion Exon 9 |
Un | Bradykinesia | Intention, limbs, chin, voice | Fast | As | Y | Ea | Y | |||
| F19P1 (M) | 30 | 38 | Parkin | Left hand | Resting tremor | Intention, limbs, voice | Fast | Sy | N | La | N | |||
| F19P2 (M) | 21 | 42 | Deletion Exon 3 |
Whole body | Resting tremor | Intention, limbs, chin, voice | Fast | Sy | Y | La | N | |||
| F20P1 (M) | 23 | 52 | Parkin | Un | Bradykinesia | Non | Slow | Sy | Y | Y | Y | |||
| F20P2 (M) | 24 | 47 | Deletion Exon 3 |
Hands | Resting tremor | Rest | Slow | Sy | Y | Y | N | |||
| F21P1 (M) | 27 | 42 | DJ-1 | Un | Oromandibular dystonia then parkinsonism | Non | Slow | Sy | Y | La | Y | |||
| F21P2 (M) | 27 | 35 | c.70delA; p.D24MfsX3 | Un | Oromandibular dystonia then parkinsonism | Non | Slow | Sy | Y | La | Y | |||
| F22P1 (M) | 24 | 30 | SYNJ1 | Right hand | Tremor, rigidity | Rest | Fast | As | Y | Y | N | |||
| F22P2 (F) | 27 | 47 | c.2515C>T; p.R839C | Whole body | Tremor, rigidity | Rest, limbs | Fast | As | Y | Y | N | |||
| F23P1 (M) | 13 | 24 | VAC14 | Lower limbs and gait | Dystonic gait | Whole body dystonic tremor | Fast | Sy | Y | n/a | Y | |||
| F23P2(M) | 8 | 13 | Lower limbs and gait | Dystonic gait | No | Fast | Sy | N | N | Y | ||||
|
| ||||||||||||||
| Patient (gender) | Bradykinesia | Hypokinesia | Autonomic dysfunction | Pyramidal signs | Stride and sleep apnea | REM sleep behavior disorder | Falling | Response to levodopa | Other symptoms | |||||
|
| ||||||||||||||
| F1P1 (F) | Y | Y | Y | N | Y | N | N | Y | Eyelid apraxia or blepharospasm, amnesia, insomnia, impaired smell | |||||
| F1P2 (F) | Y | Y | Y | N | Y | N | Y | Y | Wheelchair dependency, impaired smell | |||||
| F1P3 (F) | Y | Y | N | Sp | Y | N | Y | Y | Incontinence, wheelchair dependency, insomnia | |||||
| F1P4 (F) | Y | Y | N | Sp | N | Y | N | Y | Amnesia, insomnia | |||||
| F1P5 (M) | Y | Y | Y | N | N | N | Y | Y | Amnesia, insomnia | |||||
| F1P6 (M) | Y | Y | N | N | N | Y | N | Y | Amnesia | |||||
| F2P1 (F) | Y | Y | N | N | N | N | N | Y | – | |||||
| F2P2 (M) | N | N | N | N | NN | N | N | Y | – | |||||
| F2P3 (F) | Y | Y | N | N | N | N | N | N | – | |||||
| F2P4 (M) | Y | Y | N | N | N | N | N | Y | – | |||||
| F3P1 (M) | Y | Y | Y | N | N | N | Y | Y | Eyelid apraxia or blepharospasm, incontinence, sensory polyneuropathy, impaired smell | |||||
| F3P2 (M) | Y | Y | N | N | N | N | Y | Y | Incontinence, sensory polyneuropathy | |||||
| F3P3 (M) | Y | Y | N | N | N | N | N | Y | Sensory polyneuropathy | |||||
| F4P1 (M) | Y | Y | N | Sp | Y | N | N | Y | – | |||||
| F4P2 (F) | Y | Y | Y | Sp | Y | N | N | Y | Amnesia | |||||
| F4P3 (F) | N | N | Y | N | Y | N | Y | Y | Insomnia | |||||
| F5P1 (F) | N | N | Y | Sp | N | N | N | N | – | |||||
| F5P2 (F) | Y | Y | N | N | N | N | Y | N | Amnesia, insomnia | |||||
| F5P3 (M) | N | N | Y | Sp | Y | Y | Y | Y | Amnesia, insomnia, seizure | |||||
| F6P1 (M) | Y | Y | Y | Sp | Y | Y | Y | Y | Incontinence, wheelchair dependency, insomnia, impaired smell | |||||
| F6P2 (M) | Y | Y | Y | Sp | Y | Y | Y | Y | Incontinence, wheelchair dependency, insomnia, impaired smell | |||||
| F6P3 (F) | Y | Y | Y | Sp | Y | Y | Y | Y | Incontinence, wheelchair dependency, insomnia, impaired smell | |||||
| F7P1 (F) | Y | Y | Y | N | N | N | Y | Y | Amnesia, insomnia | |||||
| F7P2 (M) | Y | Y | Y | Sp | N | N | Y | Y | Incontinence, wheelchair dependency, insomnia, seizure, impaired smell | |||||
| F8P1 (F) | N | N | Y | N | Y | N | N | Y | Amnesia | |||||
| F8P2 (M) | N | N | Y | N | N | Y | N | Y | – | |||||
| F9P1 (M) | Y | Y | Y | Sp | Y | Y | N | Y | Incontinence, amnesia, insomnia, seizure | |||||
| F9P2 (M) | Y | Y | N | N | N | N | N | Y | Off dystonia | |||||
| F10P1 (F) | Y | N | N | N | N | N | N | Y | – | |||||
| F10P2 (F) | N | N | N | N | N | N | Y | Y | Insomnia | |||||
| F11P1 (F) | N | N | N | N | N | N | N | Y | Insomnia | |||||
| F11P2 (F) | Y | N | N | N | N | N | Y | Y | – | |||||
| F12P1 (M) | Y | Y | N | N | N | Y | N | Y | Psychosis, insomnia, paranoid ideas with pramipexole | |||||
| F12P2 (F) | Y | Y | N | Sp | N | N | N | Y | Psychiatric symptoms (depression, anxiety, and panic attacks) | |||||
| F13P1 (M) | Y | Y | Y | Ba | Y | Y | Y | Y | Incontinence, depression, suicidal attempt, drug induced dyskinesias, insomnia, impaired smell | |||||
| F13P2 (M) | Y | Y | N | N | N | N | N | Y | Psychosis, dyskinesias, insomnia | |||||
| F14P1 (F) | Y | Y | N | N | N | Y | N | Y | Incontinence | |||||
| F14P2 (F) | Y | Y | Y | N | N | N | N | Y | – | |||||
| F15P1 (F) | Y | Y | N | N | N | N | N | Y | Impaired smell | |||||
| F15P2 (M) | Y | Y | N | N | N | N | N | Y | Impaired smell | |||||
| F16P1 (M) | Y | Y | Y | Sp | N | N | N | Y | – | |||||
| F16P2 (M) | Y | Y | Y | N | Y | N | Y | Y | Wheelchair dependency, impaired smell | |||||
| F17P1 (M) | Y | N | N | N | N | N | N | Y | – | |||||
| F17P2 (M) | Y | Y | N | N | N | N | N | Y | Wheelchair dependency | |||||
| F18P1 (F) | Y | Y | Y | Sp | N | Y | Y | Y | Eyelid apraxia or blepharospasm, psychosis, amnesia, insomnia, seizure, impaired smell | |||||
| F18P2 (M) | Y | Y | Y | Sp | N | Y | Y | Y | Eyelid apraxia or blepharospasm, wheelchair dependency, psychosis, amnesia, insomnia, seizure, impaired smell | |||||
| F19P1 (M) | Y | Y | Y | Sp | N | N | Y | Y | Incontinence, insomnia, impaired smell | |||||
| F19P2 (M) | Y | Y | Y | Sp | N | N | Y | Y | Insomnia, impaired smell | |||||
| F20P1 (M) | Y | N | N | N | N | N | Y | Y | – | |||||
| F20P2 (M) | Y | N | N | N | N | N | Y | Y | – | |||||
| F21P1 (M) | Y | Y | N | N | N | N | Y | Y | Wheelchair dependency, psychosis, bilateral cataract | |||||
| F21P2 (M) | Y | Y | N | N | N | N | Y | Y | Psychosis | |||||
| F22P1 (M) | Y | Y | N | N | N | N | N | N | Seizure, chin tremor, longitudinal fissured tongue | |||||
| F22P2 (F) | Y | Y | N | N | N | N | N | N | This patient was not alive to be examined for the tongue feature | |||||
| F23P1 (M) | Y | Y | N | N | N | N | N | N | Striatal toe, normal intellectual function | |||||
| F23P2(M) | N | N | N | N | N | N | N | N | Normal intellectual function | |||||
F1P1 family 1, patient 1, M male, F female, AAO age at onset, Sy symmetric, As asymmetric, N no, Y yes, Ea early, La late, Sp spasticity, Ba Babinski, Un unknown, n/a not available