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