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