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