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