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