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