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