Kim, 2015: Overview of all reported DYT/PARK-PLA2G6 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
KOR
|
22
|
30
|
n.a.
|
Dysphonia
Hypointensity on basal ganglia and or nigra Dystonic posturing NMS parkinsonism Abnormal central motor function Gait disturbance Dystonia, focal Pyramidal sign Dystonia, hand Parkinsonism Bulbar dysfunction Dysarthria Cerebellar signs Cerebellar atrophy Dystonia (any or unspecified) Autonomic sign/sympt. Rigidity Datscan/trodat with evidence of dopaminergic deficit Show more (+15) |
n.a.
|
|
No
|
♂
|
A
|
KOR
|
6
|
15
|
n.a.
|
Cerebellar signs
Dystonic posturing Bradykinesia Hypointensity on basal ganglia and or nigra Cognitive impairment Dysarthria Abnormal central motor function Cerebellar atrophy Dystonia, focal Dystonia, hand Datscan/trodat with evidence of dopaminergic deficit Dystonia (any or unspecified) Parkinsonism Gait disturbance Rigidity Show more (+12) |
n.a.
|