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
Tremor, limb
Normal brain mri
Cognitive impairment
Parkinsonism
Bradykinesia
Resting tremor
Dyskinesia
Abnormal central motor function
Tremor (any or unspecified)
Psychosis
Rigidity
NMS parkinsonism
Psychiatric disorders
Anxiety
Show more (+13)
Resting tremor
Anxiety
Yes
C
FRA
23
n.a.
n.a.
Bradykinesia
Motor fluctuations
Dystonia, focal
Abnormal central motor function
Psychiatric disorders
Datscan/trodat with evidence of dopaminergic deficit
Dystonia, leg
Parkinsonism
Dystonia (any or unspecified)
Normal brain mri
Psychosis
Dyskinesia
NMS parkinsonism
Depression
Anxiety
Rigidity
Muscular hypotonia
Dystonia, limb
Show more (+15)
Depression
Anxiety