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