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