Bohlega, 2016: 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
|
♀
|
n.a.
|
SAU
|
26
|
35
|
n.a.
|
Mri brain other abnormalities
Postural instability Dystonia, focal Tremor (any or unspecified) Bradykinesia Cognitive impairment NMS parkinsonism Autonomic sign/sympt. Rigidity Sleep disorder Dyskinesia Dystonia, craniofacial Psychiatric disorders Depression Anarthria Abnormal central motor function Pyramidal sign Parkinsonism Datscan/trodat with evidence of dopaminergic deficit Dystonia (any or unspecified) Show more (+17) |
Bradykinesia
Depression |
|
No
|
♂
|
n.a.
|
SAU
|
22
|
28
|
n.a.
|
Parkinsonism
Depression Tremor (any or unspecified) NMS parkinsonism Sleep disorder Abnormal central motor function Postural instability Autonomic sign/sympt. Mri brain other abnormalities Bradykinesia Psychiatric disorders Cognitive impairment Pyramidal sign Show more (+10) |
Depression
Tremor (any or unspecified) |
|
Yes
|
♀
|
n.a.
|
SAU
|
25
|
30
|
n.a.
|
Pyramidal sign
Abnormal central motor function Dystonia, craniofacial Cognitive impairment Dystonia (any or unspecified) Psychiatric disorders Sleep disorder NMS parkinsonism Mri brain other abnormalities Bradykinesia Rigidity Parkinsonism Dystonia, focal Postural instability Show more (+11) |
n.a.
|