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.
|
Pyramidal sign
Cerebellar atrophy Gait disturbance Parkinsonism Hypomimic face Hypointensity on basal ganglia and or nigra Tremor (any or unspecified) Abnormal central motor function Hyperreflexia Hand tremor Bradykinesia Rigidity Show more (+9) |
Gait disturbance
Hand tremor |
|
Yes
|
♂
|
A
|
CHN
|
23
|
27
|
n.a.
|
Hypointensity on basal ganglia and or nigra
Developmental delay/intellectual disability Gait disturbance Abnormal central motor function Spasticity Developmental regression Cognitive impairment Hypomimic face Rigidity Pyramidal sign Cerebellar atrophy Dysarthria Hyperreflexia Show more (+10) |
Gait disturbance
|
|
Yes
|
♀
|
A
|
CHN
|
31
|
32
|
n.a.
|
Rigidity
Cerebellar atrophy Abnormal central motor function Postural instability Pyramidal sign Hyperreflexia Show more (+3) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
29
|
31
|
n.a.
|
Cerebellar atrophy
Rigidity Hypointensity on basal ganglia and or nigra Parkinsonism Autonomic sign/sympt. Dysarthria NMS parkinsonism Abnormal central motor function Dystonia (any or unspecified) Dystonia, craniofacial Hand tremor Tremor (any or unspecified) Dystonia, focal Bradykinesia Show more (+11) |
Hand tremor
|