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