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