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