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