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