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