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