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