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