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