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