| 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.
|
Babinski sign
Lower limb muscle weakness -Pure or uncomplicated Spasticity, lower limb Abnormality of the bladder Show more (+2) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
49
|
n.a.
|
Spasticity, lower limb
-Pure or uncomplicated Pes cavus |
n.a.
|