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