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