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