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