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