| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
3
|
n.a.
|
Spasticity
Developmental regression Pyramidal sign Nystagmus Abnormal central motor function Muscular hypotonia Bulbar dysfunction Cerebellar atrophy Strabismus Show more (+6) |
Developmental regression
Muscular hypotonia Strabismus |
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
3
|
n.a.
|
Pyramidal sign
Developmental regression Spasticity Cerebellar atrophy Strabismus Abnormal central motor function Muscular hypotonia Bulbar dysfunction Nystagmus Show more (+6) |
Developmental regression
|