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