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