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