| 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.
|
Cognitive impairment
Tremor, intention Seizures Hyperreflexia Mri brain abnormality Tremor, action Dysarthria Developmental regression Abnormal central motor function Tremor, limb Dystonia, generalized Spasticity Dystonia (any or unspecified) Abnormality of skeletal morphology Upper motor neuron dysfunction Show more (+12) |
Spasticity
|