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