| 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
Dystonia (any or unspecified) Mri brain abnormality Ataxia Gait disturbance Postural instability Seizures Developmental regression Abnormal central motor function Myoclonus Developmental delay/intellectual disability Cognitive impairment Show more (+9) |
Ataxia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
12
|
n.a.
|
n.a.
|
Abnormal central motor function
Developmental delay/intellectual disability Gait disturbance Spasticity Dystonic posturing Mri brain abnormality Postural instability Dystonia (any or unspecified) Ataxia Cognitive impairment Developmental regression Anarthria Seizures Show more (+10) |
Spasticity
Developmental regression |