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