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