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