Lu, 2012: Overview of all reported DYT/PARK-PLA2G6 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
A
CHN
8
28
n.a.
Psychosis
Dystonia, generalized
Cognitive impairment
Developmental delay/intellectual disability
Rigidity
Dystonia, cervical
Tremor (any or unspecified)
Cerebellar signs
Datscan/trodat with evidence of dopaminergic deficit
NMS parkinsonism
Dysarthria
Dystonia (any or unspecified)
Abnormal central motor function
Parkinsonism
Mri brain other abnormalities
Dyskinesia
Resting tremor
Autonomic sign/sympt.
Bradykinesia
Cerebellar atrophy
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Bradykinesia
Yes
A
CHN
30
39
n.a.
Dyskinesia
Bradykinesia
Normal brain mri
Abnormal central motor function
Datscan/trodat with evidence of dopaminergic deficit
Psychosis
Rigidity
Parkinsonism
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n.a.
Yes
A
CHN
19
31
n.a.
Dystonia, cervical
Resting tremor
Bradykinesia
Nystagmus
Cognitive impairment
Dystonia, axial
Abnormal central motor function
Dysarthria
Psychosis
Cerebellar atrophy
Dyskinesia
Mri brain other abnormalities
Autonomic sign/sympt.
Tremor (any or unspecified)
Cerebellar signs
Rigidity
Dystonia (any or unspecified)
NMS parkinsonism
Datscan/trodat with evidence of dopaminergic deficit
Parkinsonism
Developmental delay/intellectual disability
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Bradykinesia