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