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 |