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