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