Wirth, 2017: 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
C
FRA
27
n.a.
n.a.
Dyskinesia
Psychosis
Rigidity
NMS parkinsonism
Tremor, limb
Bradykinesia
Resting tremor
Parkinsonism
Anxiety
Psychiatric disorders
Abnormal central motor function
Tremor (any or unspecified)
Normal brain mri
Datscan/trodat with evidence of dopaminergic deficit
Cognitive impairment
Motor fluctuations
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Resting tremor
Anxiety
Yes
C
FRA
23
n.a.
n.a.
Normal brain mri
Dystonia, focal
Psychiatric disorders
Psychosis
Abnormal central motor function
Depression
Motor fluctuations
Datscan/trodat with evidence of dopaminergic deficit
Bradykinesia
Muscular hypotonia
Rigidity
Dystonia, leg
Parkinsonism
Dystonia (any or unspecified)
Dyskinesia
Dystonia, limb
Anxiety
NMS parkinsonism
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Depression
Anxiety