| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
19
|
n.a.
|
Tremor, action
Hyperreflexia Dystonia (any or unspecified) Tremor, limb Dysarthria Mri brain abnormality Upper motor neuron dysfunction Abnormal central motor function Dystonia, generalized Tremor, intention Developmental regression Spasticity Cognitive impairment Abnormality of skeletal morphology Seizures Show more (+12) |
Spasticity
|