Chen, 2018: Overview of all reported DYT/PARK-PLA2G6 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
27
|
28
|
n.a.
|
Gait disturbance
Cerebellar atrophy Hypointensity on basal ganglia and or nigra Parkinsonism Rigidity Hand tremor Bradykinesia Pyramidal sign Abnormal central motor function Hypomimic face Hyperreflexia Tremor (any or unspecified) Show more (+9) |
Gait disturbance
Hand tremor |
|
Yes
|
♂
|
A
|
CHN
|
23
|
27
|
n.a.
|
Developmental regression
Abnormal central motor function Developmental delay/intellectual disability Hypomimic face Cognitive impairment Gait disturbance Pyramidal sign Dysarthria Hypointensity on basal ganglia and or nigra Hyperreflexia Cerebellar atrophy Rigidity Spasticity Show more (+10) |
Gait disturbance
|
|
Yes
|
♀
|
A
|
CHN
|
31
|
32
|
n.a.
|
Cerebellar atrophy
Hyperreflexia Pyramidal sign Abnormal central motor function Postural instability Rigidity Show more (+3) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
29
|
31
|
n.a.
|
Cerebellar atrophy
Abnormal central motor function Dysarthria Dystonia, focal Hand tremor Parkinsonism Rigidity Dystonia, craniofacial Dystonia (any or unspecified) Bradykinesia Hypointensity on basal ganglia and or nigra Autonomic sign/sympt. NMS parkinsonism Tremor (any or unspecified) Show more (+11) |
Hand tremor
|