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