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