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