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