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