Michelis, 2017: 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
|
♂
|
n.a.
|
n.a.
|
34
|
37
|
n.a.
|
Gait disturbance
NMS parkinsonism Resting tremor Datscan/trodat with evidence of dopaminergic deficit Abnormal central motor function Bradykinesia Depression Postural instability Pyramidal sign Mri brain other abnormalities Tremor, action Dysarthria Tremor, limb Hand tremor Spasticity Postural tremor Cerebellar signs Developmental delay/intellectual disability Parkinsonism Postural tremor, upper limb Cerebellar atrophy Tremor (any or unspecified) Hyperreflexia Sleep disorder Cognitive impairment Show more (+22) |
n.a.
|