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