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