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