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