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