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