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