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