Kim, 2015: 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
|
♀
|
A
|
KOR
|
22
|
30
|
n.a.
|
Autonomic sign/sympt.
Dystonia, hand Pyramidal sign Dysarthria Dysphonia Hypointensity on basal ganglia and or nigra NMS parkinsonism Rigidity Cerebellar atrophy Gait disturbance Parkinsonism Dystonia, focal Datscan/trodat with evidence of dopaminergic deficit Dystonia (any or unspecified) Cerebellar signs Dystonic posturing Bulbar dysfunction Abnormal central motor function Show more (+15) |
n.a.
|
|
No
|
♂
|
A
|
KOR
|
6
|
15
|
n.a.
|
Dystonia (any or unspecified)
Dysarthria Rigidity Datscan/trodat with evidence of dopaminergic deficit Hypointensity on basal ganglia and or nigra Cerebellar atrophy Parkinsonism Bradykinesia Dystonia, hand Dystonia, focal Dystonic posturing Abnormal central motor function Cognitive impairment Cerebellar signs Gait disturbance Show more (+12) |
n.a.
|