| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Upper motor neuron dysfunction
Cognitive impairment Dystonia (any or unspecified) Myoclonus Developmental regression Developmental delay/intellectual disability Postural instability Seizures Abnormal central motor function Gait disturbance Mri brain abnormality Ataxia Show more (+9) |
Ataxia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
12
|
n.a.
|
n.a.
|
Gait disturbance
Seizures Postural instability Cognitive impairment Abnormal central motor function Mri brain abnormality Ataxia Anarthria Dystonic posturing Developmental delay/intellectual disability Spasticity Developmental regression Dystonia (any or unspecified) Show more (+10) |
Spasticity
Developmental regression |