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