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