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