Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
27
|
28
|
n.a.
|
Parkinsonism
Cerebellar atrophy Rigidity Pyramidal sign Hand tremor Bradykinesia Hypomimic face Tremor (any or unspecified) Hyperreflexia Gait disturbance Hypointensity on basal ganglia and or nigra Abnormal central motor function Show more (+9) |
Hand tremor
Gait disturbance |
|
Yes
|
♂
|
A
|
CHN
|
23
|
27
|
n.a.
|
Developmental delay/intellectual disability
Hypointensity on basal ganglia and or nigra Abnormal central motor function Hypomimic face Dysarthria Gait disturbance Pyramidal sign Hyperreflexia Rigidity Cognitive impairment Cerebellar atrophy Spasticity Developmental regression Show more (+10) |
Gait disturbance
|
|
Yes
|
♀
|
A
|
CHN
|
31
|
32
|
n.a.
|
Pyramidal sign
Rigidity Postural instability Hyperreflexia Cerebellar atrophy Abnormal central motor function Show more (+3) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
29
|
31
|
n.a.
|
Dystonia, focal
Dystonia, craniofacial Rigidity Dystonia (any or unspecified) Tremor (any or unspecified) Cerebellar atrophy Hand tremor Abnormal central motor function NMS parkinsonism Autonomic sign/sympt. Dysarthria Bradykinesia Hypointensity on basal ganglia and or nigra Parkinsonism Show more (+11) |
Hand tremor
|