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