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