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
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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
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Gait disturbance
Yes
A
CHN
31
32
n.a.
Postural instability
Pyramidal sign
Abnormal central motor function
Rigidity
Cerebellar atrophy
Hyperreflexia
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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
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Hand tremor