| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
TUR
|
17
|
n.a.
|
No
|
Diurnal fluctuations
Oculogyric spasms Parkinsonism Rigidity NMS parkinsonism Gait difficulties/falls Bradykinesia Psychotic sign/sympt. Atypical parkinsonism Postural instability Hypomimia Dysarthria/anarthria Dyskinesia Show more (+10) |
Gait difficulties/falls
|
|
No
|
♀
|
n.a.
|
PAK
|
22
|
22
|
n.a.
|
Cognitive decline
Dyskinesia Spasticity/pyramidal signs Parkinsonism Psychotic sign/sympt. Dystonia Atypical parkinsonism Postural instability Bradykinesia Show more (+6) |
Bradykinesia
|
|
No
|
♀
|
n.a.
|
PAK
|
24
|
44
|
n.a.
|
Cataracts
Gaze palsy Rigidity Bradykinesia Dyskinesia Postural instability Atypical parkinsonism Psychotic sign/sympt. Cognitive decline Respiratory sighs Parkinsonism Spasticity/pyramidal signs Show more (+9) |
Bradykinesia
|
|
Yes
|
♀
|
n.a.
|
PAK
|
17
|
22
|
n.a.
|
Spasticity/pyramidal signs
Autonomic sign/sympt. Respiratory sighs Gaze palsy Parkinsonism Apraxia Cognitive decline Postural instability Cataracts Atypical parkinsonism Rigidity Bradykinesia Dyskinesia Dysarthria/anarthria Psychotic sign/sympt. Show more (+12) |
Rigidity
Bradykinesia |