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