| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
16
|
n.a.
|
-Pure or uncomplicated
Lower limb muscle weakness Babinski sign Abnormality of the bladder Spasticity, lower limb Show more (+2) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
49
|
n.a.
|
Pes cavus
-Pure or uncomplicated Spasticity, lower limb |
n.a.
|