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