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