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