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