Lu, 2012: 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
|
CHN
|
8
|
28
|
n.a.
|
Parkinsonism
Psychosis Dysarthria Cerebellar atrophy Developmental delay/intellectual disability NMS parkinsonism Mri brain other abnormalities Cognitive impairment Dyskinesia Cerebellar signs Bradykinesia Autonomic sign/sympt. Resting tremor Rigidity Abnormal central motor function Dystonia (any or unspecified) Tremor (any or unspecified) Dystonia, cervical Dystonia, generalized Datscan/trodat with evidence of dopaminergic deficit Show more (+17) |
Bradykinesia
|
|
Yes
|
♀
|
A
|
CHN
|
30
|
39
|
n.a.
|
Psychosis
Datscan/trodat with evidence of dopaminergic deficit Bradykinesia Parkinsonism Dyskinesia Normal brain mri Abnormal central motor function Rigidity Show more (+5) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
19
|
31
|
n.a.
|
Cerebellar atrophy
Dystonia (any or unspecified) Dystonia, cervical Psychosis Dyskinesia Mri brain other abnormalities Datscan/trodat with evidence of dopaminergic deficit Rigidity Parkinsonism Nystagmus Cerebellar signs NMS parkinsonism Tremor (any or unspecified) Resting tremor Bradykinesia Abnormal central motor function Autonomic sign/sympt. Cognitive impairment Dystonia, axial Dysarthria Developmental delay/intellectual disability Show more (+18) |
Bradykinesia
|