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